Genetic studies on Arabs

From Wikipedia, the free encyclopedia

Genetic studies on Arabs refers to the analyses of the genetics of ethnic Arab people in the Middle East and North Africa. Arabs are genetically diverse as a result of their intermarriage and mixing with indigenous people of the pre-Islamic Middle East and North Africa following the Arab and Islamic expansion.[1][2] Genetic ancestry components related to the Arabian Peninsula display an increasing frequency pattern from west to east over North Africa. A similar frequency pattern exist across northeastern Africa with decreasing genetic affinities to groups of the Arabian Peninsula along the Nile river valley across Sudan and the more they go south.[3] This genetic cline of admixture is dated to the time of Arab expansion and immigration to North Africa (Maghreb) and northeast Africa.[3]

In the Levant, the introduction of Islam to the region and the conversion of the region’s population to it caused major rearrangements in populations' relations and affinities through admixture with "culturally similar but geographically remote populations" with whom they enjoyed a shared Islamic culture, Arab culture and Arabic language, which led to "genetic similarities between remarkably distant populations like Jordanians, Moroccans, and Yemenis".[4]

A 2018 study of Arabs found that Peninsular Arabs genetically showed two distinct clusters and that Arabs in general can be genetically stratified into four groups; the first consisting of Maghrebi Arabs (Algerians, Moroccans, Tunisians and Libyans) along with the first Arabian Peninsula cluster, which consists of Saudis, Kuwaitis and Yemenis, the second consisting of Levantine Arabs (Palestinians, Lebanese, Syrians and Jordanians) along with Egyptians and Iraqis, the third compromising Sudanese and Comorians, and the fourth compromising the second Arabian Peninsula cluster consisting of Omanis, Emiratis, and Bahrainis. The study confirmed the high genetic heterogeneity among Arabs, especially those of the Arabian Peninsula.[1]

Uniparental markers[edit]

Y-chromosome[edit]

The most dominant Paternal Y haplogroup in Arab countries is the Arabian haplogroup J1 (J-M267) and especially its main clade J1-P58 reaching up to 80% in some countries such as Yemen, Qatar and Sudan, according to latest samples studies.[5] J1-M267 that is not P58 are found in Yemen and Oman. The mutation STR DYS388 equal or above 16 found in J1-p58 was used as genetic profiling in Forensics since the 80s to determine Middle Eastern ancestry. (Nebel et Al 2001)[6]

Below is the general distribution of Y-DNA haplogroups among populations of the Arab world:

Population Language Family[7] n[8] R1b[9] n R1a n I n E1b1b n E1b1a n J n G n N n T n L
Arabs (Algeria) Afro-Asiatic (Semitic) 35 13.0[10] 35 0.0[10] 32 50[11] 35 35[10]
Arabs (AlgeriaOran) Afro-Asiatic (Semitic) 102 10.8[12] 102 1[12] 102 50.9[12] 102 12.8[12] 102 27.4[12]
Arabs (Bedouin) Afro-Asiatic (Semitic) 32 0.0[13] 32 9.4[13] 32 6.3[13] 32 18.7[13] 32 65.6[13] 32 0.0[13]
Arabs (Iraq) Afro-Asiatic (Semitic) 10.8[14] 6.5[14] 218 8.3[11] 218 0.9[11] 156 50.6[11]
Arabs (Israel) Afro-Asiatic (Semitic) 143 8.4[13] 143 1.4[13] 143 6.3[13] 143 20.3[13] 143 55.2[13] 143 0.0[13]
Arabs (Morocco) Afro-Asiatic (Semitic) 44 3.8[15] 44 0.0[15] 44 0.0[15] 49 85.5[11] 49 20.4[11]
Arabs (Oman) Afro-Asiatic (Semitic) 121 1.7[16] 121 9.1[16] 121 0.0[16] 121 15.7[16] 121 7.4[16] 121 47.9[16] 121 1.7[16] 121 8.3[16] 121 0.8[16]
Arabs (Qatar) Afro-Asiatic (Semitic) 72 1.4[17] 72 6.9[17] 72 0.0[17] 72 5.6[17] 72 2.8[17] 72 66.7[17] 72 2.8[17] 72 0.0[17] 72 0.0[17] 72 2.8[17]
Arabs (Saudi Arabia) Afro-Asiatic (Semitic) 157 1.9[18] 157 5.1[18] 157 0.0[18] 157 7.6[18] 157 7.6[18] 157 58.0[18] 157 3.2[18] 157 0.0[18] 157 5.1[18] 157 1.9[18]
Arabs (UAE) Afro-Asiatic (Semitic) 164 4.3[17] 164 7.3[17] 164 11.6[17] 164 5.5[17] 164 45.1[17] 164 4.3[17] 164 0.0[17] 164 4.9[17] 164 3.0[17]
Arabs (Yemen) Afro-Asiatic (Semitic) 62 0.0[17] 62 0.0[17] 62 0.0[17] 62 12.9[17] 62 3.2[17] 62 82.3[17] 62 1.6[17] 62 0.0[17] 62 0.0[17] 62 0.0[17]
Arabs (Syria) Afro-Asiatic (Semitic) 20 15.0[19] 20 10.0[19] 20 5.0[19] 20 10.0[19] 20 53.0[19] 20 0.0[19] 20 0.0[19] 20 0.0[19] 20 0.0[19]
Arabs (Lebanon) Afro-Asiatic (Semitic) 31 6.4[19] 31 9.7[19] 31 3.2[19] 31 25.8[19] 31 45.2[19] 31 3.2[19] 31 0.0[19] 31 0.0[19] 31 3.2[19]
Arabs (Sudan) Afro-Asiatic (Semitic) 102 15.7[20] 102 3.9[20] 102 16.7[20] 102 47.1[20]
Arabs (Tunisia) Afro-Asiatic (Semitic) 148 6.8[10] 148 0.0[10] 148 0.0[10] 148 49.3[10] 148 1.4[10] 148 35.8[10] 148 0.0[10] 148 0.7[10] 148 0.0[10]
Arabs (Libya) Afro-Asiatic (Semitic) 63 3[21] 63 1.5[21] 63 1.5[21] 63 52.0[21] 63 0.0[21] 63 24.0[21] 63 8.0[21] 63 5.0[21] 63 1.5[21]
Saharawi (SADR) Afro-Asiatic (Semitic) 29 79.3[11] 29 3.4[11] 29 17.2[11]
Egyptians Afro-Asiatic (Semitic) 92-147 5.4[22]-4.1 92-147 0.0[22]-2.7[16] 92-147 1.1[22]-0.7[16] 92-147 43.5[22]-36.7[16] 92-147 3.3[22]-2.8[16] 92-147 22.8[22]-32.0[16] 92-147 2.2[22]-8.8[16] 92-147 0.0[22]-0.0[16] 92-147 7.6[22]-8.2[16] 92 0.0[22]
Egyptians (North) Afro-Asiatic (Semitic) 43 9.3[23] 43 2.3[23] 43 0.0[23] 43 53.5[23] 44 18.2[10] 43 7.0[23] 43 2.3[23] 43 0.0[23]
Egyptians (South) Afro-Asiatic (Semitic) 47 13.8[24] 47 78.7[24]
Lebanese Afro-Asiatic (Semitic) 914 8.1[25] 914 2.5[23] 914 4.8[23] 914 16.2[23] 914 0.7[23] 914 46.1[23] 914 6.6[23] 914 0.1[23] 914 4.7[23] 914 5.2[23]

mtDNA analysis[edit]

The maternal ancestral lineages of Arabic countries are diverse. The original and still most prevalent maternal haplogroups of the Near East (Syria, Lebanon, Palestine, Iraq, Arabian Peninsula) and Egypt are mt (maternal) R0a1 (previously called pre-HV), M1 haplogroup ( The "back to Africa " haplogroup) a branch of Asian Haplogroup M (mtDNA) which branched from L3 Haplogroup around 70 000 years ago, and (maternal) HV1 haplogroup a branch of HV1 haplogroup that are still high in Yemen, while in Greater Syria there is a Eurasian maternal gene flow, and U5 haplogroup.[26][27][20]

HLA antigens[edit]

Many of the genetic disorders specific to Arabs are located on HLA segment on chromosome 6. These same segment mutations are also markers of Arabs in genealogical and forensic profiling tests and studies.[28][29][26][27][20][30][31]

Autosomal DNA[edit]

There are four principal West-Eurasian autosomal DNA components that characterize the populations of the Arab world, namely: the Arabian, Levantine, Coptic, and Maghrebi components.[citation needed] The Arabian component is the main autosomal element in the Gulf region. It is most closely associated with local Arabic-speaking populations.[32]

  • The Arabian component is also found at significant frequencies in parts of the Levant and Northeast Africa.[32][33] The geographical distribution pattern of this component correlates with the pattern of the Islamic expansion, but its presence in Lebanese Christians, Sephardi and Ashkenazi Jews, Cypriots and Armenians might suggest that its spread to the Levant represents an earlier event.[32] A separate study by Iosif Lazarides and colleagues published in the same year, correlated this component with Epipaleolithic Natufians from the Levant. This study produced genome-wide ancient DNA from 44 ancient Near Easterners between ~12,000 and 1,400 BCE, including Natufian hunter–gatherers, and suggested an earlier spread of Natufian ancestry to populations of the Levant and Eastern Mediterranean. Natufians were found to be of exclusive West-Eurasian origin, most closely related to modern Arabs like the Bedouins and Yemenis, followed by Egyptian and Berber peoples.[34] A 2018 re-analysis of Natufian samples, including 279 modern populations as a reference, found that the Natufians were largely of local West-Eurasian origin, but harbored 6.8% Eastern African-related ancestry, specifically an Omotic component, which peaks among the Aari people. It is suggested that this Omotic component may have been introduced into the Levant along with the specific Y-haplogroup sublineage E-M215, also known as "E1b1b", to Western Eurasia.[35]
  • The Levantine component is the main autosomal element in the Near East and Caucasus. It peaks among Druze populations in the Levant. The Levantine component diverged from the Arabian component about 15,500-23,700 ypb.[32]
  • The Coptic component peaks among Egyptian Copts in Sudan.[36]
  • The Maghrebi component is the main autosomal element in the Maghreb. It peaks among the non-Arabized Berber populations in the region.[33] The modern Northern African (Berber) populations have been described as a mosaic of Northern African (Iberomaurusian), Middle Eastern, European (Early European Farmer), and Sub-Saharan African-related ancestries.[37]

A genetic study published in the "European Journal of Human Genetics" in Nature (2019) showed that Middle Easterners (Arabs) are closely related to Europeans and Northern Africans as well as to Southwest Asians.[38] The "Arab macropopulation" is generally closely related to other "West-Eurasian" populations, such as Europeans or Iranian peoples. The Arab expansion marked one of the last expansions of West-Eurasian ancestry into Africa, with the earliest scientifically attested West-Eurasian geneflow into Africa being dated back to 23,000 BCE (or already earlier), and may be associated with the spread of Proto-Afroasiatic from the Middle East.[39][40] Hodgson et al. (2014) found a distinct non-African ancestry component among Northeastern Africans (dubbed "Ethio-Somali"), which split from other West-Eurasian ancestries, most closely to the Arabian ancestry component, about 23,000 years ago, and migrated into Africa pre-agricultural (between 12,000 to 22,000 years ago). This component is suggested to have been present in considerable amounts among the Proto-Afroasiatic-speaking peoples. The authors argue that the Ethio-Somali component and the Maghrebi component descended from a single ancestral lineage, which split from the Arabian lineage and migrated into Africa from the Middle East. In Africa, this West-Eurasian lineage diverged into the Maghrebi component, predominant in Northern Africa, and the Ethio-Somali component, found in significant varying degrees among populations of the Horn of Africa.[41]

In 2021, a study showed no genetic traces of early expansions out-of-Africa in present-day populations in the Near-East, but found Arabians to have elevated Basal Eurasian ancestry that dilutes their Neanderthal ancestry.[42]

Genetic disorders[edit]

The Arab world has one of the highest rates of genetic disorders globally; some 906 pathologies are endemic to the Arab states, including thalassaemia, Tourette's syndrome, Wilson's disease, Charcot-Marie-Tooth disease, mitochondrial encephalomyopathies, and Niemann-Pick disease.[43]

Databases[edit]

Several organizations maintain genetic databases for each Arabic country, such as Saudi Human Genome Program (SHGP). Even though the KGP, SHGP, QGP, BGP and EGP are revisiting the genetics and genomics of Arab populations’ ancestries, lack of complete coordination between the initiatives is a major limitation on revealing the real disease markers of the Arab population.[44]

The Centre for Arab Genomic Studies (CAGS) is the main organization based in the United Arab Emirates. It initiated a pilot project to construct the Catalogue for Transmission Genetics in Arabs (CTGA) database for genetic disorders in Arab populations. At present, the CTGA database is centrally maintained in Dubai and hosts entries for nearly 1,540 Mendelian disorders and related genes. This number is increasing as researchers are joining the largest Arab scientific effort to define genetic disorders described in the region. The Center promotes research studies on these emergent disorders.[45]

Some of the genetic disorders endemic to the Arab world are: hemoglobinopathy, sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, and fragile X syndrome (FXS), which is an inherited genetic condition with critical consequences. The Centre provide information about specific countries,[46] and maintain a list of Genomic diseases.[47][48][49]

Specific rare autosomal recessive diseases are high in Arabic countries like Bardet Biedl syndrome, Meckel syndrome, congenital chloride diarrhea, severe childhood autosomal recessive muscular dystrophy (SMARMD), lysosomal storage diseases and PKU are high in the Gulf states. Dr Teebi's book provides detailed information and by country.[50] Even the Middle East respiratory syndrome coronavirus (MERS-CoV) that was first identified in Saudi Arabia last year, it has infected 77 people, mostly in the Middle East and Europe. Forty of them – more than half – have died. But MERS is not yet a pandemic, could become pervasive in genetic disease patient. [51]

Dr Thurman' guidebook about rare genetic diseases[52] Another book Arabic genetic disorders layman guide[53] Saudi Journal article about genetic diseases in Arabic countries[54] The highest proportion of genetic disorders manifestations are: congenital malformations, followed by endocrine metabolic disorders and then by neuron disorders (such as neuromotor disease) and then by blood, immune disorders and then neoplasms. The Mode of Inheritance is mainly autosomal recessive followed by autosomal dominant.

Some of the diseases are beta-thalassemia mutations, sickle-cell disease, congenital heart-disease, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, molecular characterization, recessive osteoperosis, gluthanione-reducatsafe DEf. A study about sickle cell anemia in Arabs[55] article about Birth defects[26] Glucose phosphate isomerase deficiency responsible for unexpected hemolytic episodes.[56] one of late Dr Teebi's syndromes.[57] flash cards guide.[58][59][60][61] NY Times article[62] In Palestinian Arabs study[63] study about potential on pharmacology [64] another study on Arab Palestinians[65] Database of Genetic disorders in Arabs study[66] In Palestinians[67] new general study about databases[68] Database for B thalassemia in Arabs[69] Israeli National genetic bank contains genetic mutations of Arabs[70] Teebi database 2002[71] 2010 genes responsible for genetic diseases among Palestinian Arabs[72][73] The next Pan-Arab conference Nov 2013 [74]

Diagnosis of genetic disorders[edit]

Diagnosis of genetic disorders after birth is done by clinicians, lab tests, and sometimes genetic testing. Genetic testing profiling screening of pregnant women's fetuses for List of disorders included in newborn screening programs using microchip genetic microarry might help detect genetic mutations incompatible with life and determining abortion. Some genetic tests of born children might help finding the right treatment.[75][76] Mothers could test for genetic disorders in the fetus by method of chorionic villus sampling (CVS) or amniocentesis.

It is possible for medical genetic testing to discover genetic mutations that predispose or active in causing a disease that might probably happen in the future at later age or causing a disease with unnoticed symptoms that will increase in the future. genetic testing is increasingly being used by physicians after becoming cheaper, and the still existing resistance by HMO medical providers, because such testing make shortcuts towards faster diagnosis, causing the HMOs to loose profits from extended physicians visits and other laboratory tests that laboratories share profits with HMOs, where "Doctor patient relationship" aimed at helping patient conflict with Profit making HMOs and big clinics.

Genealogy and geography[edit]

Consanguinity (interbreeding, marriage between cousins, inside the family, the clan, the tribe, or even country especially small countries like Kuwait, to preserve fortunes in the family or clan or tribe especially after the Oil discovery in Gulf) is the main cause of Arabic genetical diseases, in addition to mutagens such as environmental factors such as the oil industry and radiological waste dumps in sea and land.

Most affected are the small countries such as Kuwait Jordan and the Gulf states, but all other Arabic countries because of Consanguinity. Consanguinity also is causing novel new diseases that are unpredictable and costly to diagnose and treat ( where treatments of genetic diseases are still lacking), characterized by a high level of genetic mutations.

Intellectual disability, neurogenetic disorders, blood and bleeding disorders and rare genetic diseases and retinal dystrophy and novel candidate disease marker variations.while Saudi mtDNA association with obesity.

Intellectual disability comes first with the combined and observed carrier frequency of 0.06779!, followed by retinal dystrophy, glaucoma, inborn errors of metabolism, sickle cell disease/thalassemia, deafness, dysmorphic/dysplasia, ataxia, myopathy/muscular dystrophy, polycystic kidney disease/nephronophthisis, Joubert syndrome/Meckel-Gruber syndrome, carbonic anhydrase II deficiency, cystic fibrosis, Bardet-Biedl syndrome, and cataract.

Carrier frequency of the intellectual disability is three times more than that of sickle cell disease and thalassemia among the Arab population with 25–60% consanguinity rates!. 33 genes (observed phenotype), were identified among the pre-screened multiplex consanguineous families with neurogenetic disorders.

Previously known Blood and bleeding disorders: Molecular defects, blood disorders, β-thalassemia, sickle cell disorder, α-thalassemia and G6PD (glucose-6-phosphate dehydrogenase) deficiency are the most common in the Arab population.

Since Arabic populations tend to have Arabic paternal ancestry, mainly the Arabian male Y- J1 haplogroup especially j1-P58 and little E1b1b of North Africa, more diverse maternal ancestries needed to balance and to diverse the gene pool, but "historically" poor countries such as Yemen and Arabian peninsula lack female ancestry diversity, as seen most in greater Syria Iraq and Egypt that have extra maternal haplogroups than the Middle East- associated maternal (aka mito or mitochondrial) HV1b, U, U5, M1, R0a haplogroups, and the traditional Consanguinity that had increased due to oil fortune preservation trend, significantly trumped up the genetic diseases and genetic predisposition for such diseases that are becoming Novel "new" in nature, ie unknown yet to discover and understand the etiology and prepare treatments or prevention.

The new trend to stay local among Arabic populations in Arabic countries and especially after creating small countries after independence from the west in the 50s.Marrying into a different gene pool such as historically isolated Yemen or different and isolated ie Indonesia would help.

While diabetes is very prevalent among Arabs 10% up to 20%, responsible Arab genes have not been found yet but Saudi mitochondrial gene was found that cause obesity that predispose to diabetes.[44][77]

Bare lymphocyte syndrome high in western Arabic block Morocco, type II limb-girdle muscular dystrophy, type 2C in Libya, hemolytic-uremic syndrome in Saudia, ankylosing spondylitis in Egypt and East block, alpha-thalassemia in all countries except Egypt, Syria, and Iraq, cystic fibrosis in Iraq Saudi Yemen Libya Morocco, familial Mediterranean fever fmf in east block and Libya Morocco, beta thalassemia in all countries, g6dh deficiency all countries.[59]

Most genetic markers of Arabs' genetic diseases are phenotypic, i.e. specific mutations of Arab peoples, especially in countries. Even though genetic mutations of Gulf states are mostly the same, but some genetic phenotypes are Kuwaiti etc.

The diseases have geographical distribution among Arab countries such as greater Syria, Gulf states, Yemen, Western block (Morocco, Algeria, Tunisia), because of the restricted marriages to each block or even to one country. Moreover, cousin marriages (consanguinity) and endogamy (marriages restricted to minority sects) exacerbate the problem. Distancing of marriages from distant gene pools might help resolve the problem in Arabic countries. Many of the pronounced genetic deficiencies in Arabs are located on HLA segment on chromosome 6. This same segment mutations are markers of Arabs in Genealogical and forensic profiling tests and studies. Such studies as:[26][30][27][20][31] Arab population data on the PCR-based loci:HLA [28] HLA polymorphism in Saudi.[29]

Since over 70% of Arab genetic disorders are autosomal-recessive, meaning the defective gene has to be found in both father and mother, and since the gene pool is similar in population (males and females alike since autosomal chromosomes are admixture from father and mother, in closed societies (marriages from same sect endogamy, or same tribe or even from same country, or even from the same block of countries since it is similar in geographical blocks as shown in the online brochures referenced above.[78]

Founder Effect Arabic mutations causing Diseases[edit]

Preface: The founder effect disease causing mutations where "The founder effect refers to the concept that a given gene appeared (presumably by mutation) in a small ancestral population (i.e., in a founder) and by random chance was transmitted to a large number of that founder’s offspring.". The founder population could be the common ancestry of Arabs or the forced  localizations caused by artificial countries  inside the larger group of ancestry, hence causing Arab specific founder effect mutation disease found only in all Arabic countries, and Arabic country specific mutation diseases caused by increasing Homozygosity ( the existence of same gene on both chromosomes pairs, hence recessive disease increasing in just few generations). The genetic abnormality will increase incrementally with the decrease of number of isolated populations making tribe specific diseases and new Novel genetic defects.[79]

In recessive diseases, founder populations where underlying levels of genome-wide homozygosity are high due to shared common ancestry, but also for consanguineous populations that will have large genome-wide homozygous regions due to inbreeding. Having a catalog of disease-associated variation in these populations enables rapid, early, and accurate diagnoses that may improve patient outcomes due to informed clinical management and early interventions.[80]

The following are diseases that can happen to genetic mutations that have ancient ancestry founding effect mutations that happened in Arabic Ancestry ( not including the many Novel new mutations caused by Consanguinity and unknown factors in recent times):[81]

  • Sickle cell Anemia
  • Hydroxylaze deficiency
  • Ataxia with vitamin E deficiency
  • Genetic hetero intestinal malabsorption B12
  • Autosomal recessive Hearing loss
  • Autosomal recessive deafness
  • Alpha and Betha Thalassemia
  • Carbonic anhidrase deficiency,
  • Familial Mediterranean fever,
  • Fragile X syndrome,
  • Gaucher disease,
  • Glucose 6 phosphatase dihedrogenase deficiency,
  • Hereditary Hemochromatosis,
  • Limbs Girdle Muscular deficiency type c,
  • Megalo plastic anemia,
  • Parkinson's,
  • Phenylketonuria
  • Primary hyperocaluria
  • Congenital Myasthenia Syndrome
  • Criger- Najjar Type I syndrome
  • Distal Renal tubero Acidosis
  • Sickle Haemoglobin
  • G6pd deficiency
  • A and B Thalassemia
  • Defnb1
  • Phenylketonuria PAH
  • Distal Renal tubular Acidosis
  • Cystic fibrosis
  • Leber congenital
  • Autosomal recessive myopathy inclusion body
  • Mitochondrial gene for obesity in Saudis that along with sedentary life predispose to Diabetes.

Prevention[edit]

To use Genetic counseling especially before and after marriage, avoiding Consanguinity, marrying into a different gene pool especially that did not have Consanguinity. Avoiding mutagens ie factors that cause mutations such as radioactive and other environmental factors such as living near high microwave frequency electric poles, and near or on top of previous "Brown Fields" AKA industrial establishment. The importance to report to the medical provider the ethnicity As Arabic or Berber and specific country such as Saudi Arabia so the provider can design genetic testing and other tests to discover the possible ailments especially large DNA sequencing and specific DNA testing became available and reasonably affordable. Most genetic diseases go unnoticed by person or physician or dormant and show up later in life, and so genetic testing might reveal the probable existence or dormancy of a disease or syndrome before it manifest or to confirm a disease in spite of negative other non genetic laboratory tests. many disease causing genetic alterations are country specific or even sub category such as " Jewish Tunisian" for example. knowing the ancestral Y paternal and mitochondrial maternal haplogroups and other private companies Nuclear DNA might give Bird's eye view of what to expect along with self identification of race and country of origin. Interventions during pregnancy, including: early detection and management of maternal conditions such as diabetes; early detection and management of infections. avoidance of teratogens (infections such as toxoplasmosis, drugs); prenatal screening by maternal serum markers in first trimester and by ultrasonography; prenatal diagnosis with/without termination of pregnancy; care of fetus for conditions such as Rh incompatibility; avoidance of tobacco use and exposure to pollution; and supplementation with iron and folate. Interventions after birth, including: newborn biochemical screening for congenital hypothyroidism, phenylketonuria (PKU), galactosaemia, sickle cell disorder, glucose-6-phosphate dehydrogenase (G6PD) deficiency, congenital adrenal hyperplasia, methyl coenzyme dehydrogenase deficiency;.[82]

Discoveries of new syndromes[edit]

Teebi type of hypertelorism (1987), Teebi Shaltout syndrome (1989), Al Gazali syndrome (1994), Megarbane syndrome (2001)

There are even new Arabic names for emerging genetic disorders and syndromes like:

Spectrum of Genetic Disorders in Arabs, Lebanese type of mannose 6--phosphate receptor recognition defect (1984), Algerian type of spondylometaphyseal dysplasia (1988), Kuwaiti type of cardioskeletalsyndrome (1990), Yemenite deaf-blind hypopigmentation syndrome (1990), Nablus mask-like facial syndrome (2000), Jerash type of the distal hereditary motor neuropathy (2000), Karak syndrome (2003), Omani type of spondyloepiphy.[83]

See also[edit]

References[edit]

  1. ^ a b Hajjej, Abdelhafidh; Almawi, Wassim Y.; Arnaiz-Villena, Antonio; Hattab, Lasmar; Hmida, Slama (2018-03-09). "The genetic heterogeneity of Arab populations as inferred from HLA genes". PLOS ONE. 13 (3): e0192269. Bibcode:2018PLoSO..1392269H. doi:10.1371/journal.pone.0192269. ISSN 1932-6203. PMC 5844529. PMID 29522542.
  2. ^ Teebi, Ahmad S.; Teebi, Saeed A. (2005). "Genetic Diversity among the Arabs". Community Genetics. 8 (1): 21–26. doi:10.1159/000083333. ISSN 1422-2795. JSTOR 26679441. PMID 15767750. S2CID 21134947.
  3. ^ a b Schlebusch, Carina M.; Jakobsson, Mattias (2018-08-31). "Tales of Human Migration, Admixture, and Selection in Africa". Annual Review of Genomics and Human Genetics. 19 (1): 405–428. doi:10.1146/annurev-genom-083117-021759. ISSN 1527-8204. PMID 29727585. S2CID 19155657.
  4. ^ Haber, Marc; Gauguier, Dominique; Youhanna, Sonia; Patterson, Nick; Moorjani, Priya; Botigué, Laura R.; Platt, Daniel E.; Matisoo-Smith, Elizabeth; Soria-Hernanz, David F.; Wells, R. Spencer; Bertranpetit, Jaume; Tyler-Smith, Chris; Comas, David; Zalloua, Pierre A. (2013-02-28). "Genome-Wide Diversity in the Levant Reveals Recent Structuring by Culture". PLOS Genetics. 9 (2): e1003316. doi:10.1371/journal.pgen.1003316. ISSN 1553-7404. PMC 3585000. PMID 23468648.
  5. ^ "Arabian J1 haplogroup".
  6. ^ Nebel, A; et al. (2001). "Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392". Eur J Hum Genet. 9 (1): 22–26. doi:10.1038/sj.ejhg.5200577. PMID 11175295. S2CID 23256498.
  7. ^ IE = Indo-European
  8. ^ First column gives the amount of total Sample Size studied
  9. ^ Second column gives the Percentage of the particular haplogroup among the Sample Size
  10. ^ a b c d e f g h i j k l m Arredi B, Poloni ES, Paracchini S, Zerjal T, Fathallah DM, Makrelouf M, et al. (August 2004). "A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa". American Journal of Human Genetics. 75 (2): 338–345. doi:10.1086/423147. PMC 1216069. PMID 15202071.
  11. ^ a b c d e f g h i Semino O, Magri C, Benuzzi G, Lin AA, Al-Zahery N, Battaglia V, et al. (May 2004). "Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area". American Journal of Human Genetics. 74 (5): 1023–1034. doi:10.1086/386295. PMC 1181965. PMID 15069642.
  12. ^ a b c d e Robino C, Crobu F, Di Gaetano C, Bekada A, Benhamamouch S, Cerutti N, et al. (May 2008). "Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample". International Journal of Legal Medicine. 122 (3): 251–255. doi:10.1007/s00414-007-0203-5. PMID 17909833. S2CID 11556974.
  13. ^ a b c d e f g h i j k l Nebel A, Filon D, Brinkmann B, Majumder PP, Faerman M, Oppenheim A (November 2001). "The Y chromosome pool of Jews as part of the genetic landscape of the Middle East". American Journal of Human Genetics. 69 (5): 1095–1112. doi:10.1086/324070. PMC 1274378. PMID 11573163.
  14. ^ a b Al-Zahery N, Semino O, Benuzzi G, Magri C, Passarino G, Torroni A, Santachiara-Benerecetti AS (September 2003). "Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations". Molecular Phylogenetics and Evolution. 28 (3): 458–472. doi:10.1016/S1055-7903(03)00039-3. PMID 12927131. S2CID 7225835.
  15. ^ a b c Pericić M, Lauc LB, Klarić IM, Rootsi S, Janićijevic B, Rudan I, et al. (October 2005). "High-resolution phylogenetic analysis of southeastern Europe traces major episodes of paternal gene flow among Slavic populations". Molecular Biology and Evolution. 22 (10): 1964–1975. doi:10.1093/molbev/msi185. PMID 15944443. Haplogroup frequency data in table 1
  16. ^ a b c d e f g h i j k l m n o p q Luis JR, Rowold DJ, Regueiro M, Caeiro B, Cinnioğlu C, Roseman C, et al. (March 2004). "The Levant versus the Horn of Africa: evidence for bidirectional corridors of human migrations" (PDF). American Journal of Human Genetics. 74 (3): 532–544. doi:10.1086/382286. PMC 1182266. PMID 14973781. Archived from the original (PDF) on February 16, 2012. (Errata Archived February 16, 2012, at the Wayback Machine)
  17. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac Cadenas AM, Zhivotovsky LA, Cavalli-Sforza LL, Underhill PA, Herrera RJ (March 2008). "Y-chromosome diversity characterizes the Gulf of Oman". European Journal of Human Genetics. 16 (3): 374–386. doi:10.1038/sj.ejhg.5201934. PMID 17928816.
  18. ^ a b c d e f g h i j Abu-Amero KK, Hellani A, González AM, Larruga JM, Cabrera VM, Underhill PA (September 2009). "Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions". BMC Genetics. 10: 59. doi:10.1186/1471-2156-10-59. PMC 2759955. PMID 19772609.
  19. ^ a b c d e f g h i j k l m n o p q r Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, et al. (November 2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective" (PDF). Science. 290 (5494): 1155–1159. Bibcode:2000Sci...290.1155S. doi:10.1126/science.290.5494.1155. PMID 11073453. Archived from the original (PDF) on November 25, 2003.
  20. ^ a b c d e f g Hassan HY, Underhill PA, Cavalli-Sforza LL, Ibrahim ME (November 2008). "Y-chromosome variation among Sudanese: restricted gene flow, concordance with language, geography, and history". American Journal of Physical Anthropology. 137 (3): 316–323. doi:10.1002/ajpa.20876. PMID 18618658.
  21. ^ a b c d e f g h i Immel UD, Erhuma M, Mustafa T, Kleiber M, Klintschar M (April 2006). "Population genetic analysis in a Libyan population using the PowerPlex 16 system.". International Congress Series. Vol. 1288. Elsevier. pp. 421–423. doi:10.1016/j.ics.2005.08.036.
  22. ^ a b c d e f g h i j Wood ET, Stover DA, Ehret C, Destro-Bisol G, Spedini G, McLeod H, et al. (July 2005). "Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes". European Journal of Human Genetics. 13 (7): 867–876. doi:10.1038/sj.ejhg.5201408. PMID 15856073. S2CID 20279122.
  23. ^ a b c d e f g h i j k l m n o p Zalloua PA, Platt DE, El Sibai M, Khalife J, Makhoul N, Haber M, et al. (November 2008). "Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean". American Journal of Human Genetics. 83 (5): 633–642. doi:10.1016/j.ajhg.2008.10.012. PMC 2668035. PMID 18976729.
  24. ^ a b Trombetta B, D'Atanasio E, Massaia A, Ippoliti M, Coppa A, Candilio F, et al. (June 2015). "Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent". Genome Biology and Evolution. 7 (7): 1940–1950. doi:10.1093/gbe/evv118. PMC 4524485. PMID 26108492.; Supplementary Data [dead link]
  25. ^ Zalloua PA, Xue Y, Khalife J, Makhoul N, Debiane L, Platt DE, et al. (April 2008). "Y-chromosomal diversity in Lebanon is structured by recent historical events". American Journal of Human Genetics. 82 (4): 873–882. doi:10.1016/j.ajhg.2008.01.020. PMC 2427286. PMID 18374297.
  26. ^ a b c d Yanni EA, Copeland G, Olney RS (June 2010). "Birth defects and genetic disorders among Arab Americans--Michigan, 1992-2003". Journal of Immigrant and Minority Health (Submitted manuscript). 12 (3): 408–413. doi:10.1007/s10903-008-9203-x. PMID 18972209. S2CID 23474459.
  27. ^ a b c Al-Zahery N, Pala M, Battaglia V, Grugni V, Hamod MA, Hooshiar Kashani B, et al. (October 2011). "In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq". BMC Evolutionary Biology. 11 (1): 288. Bibcode:2011BMCEE..11..288A. doi:10.1186/1471-2148-11-288. PMC 3215667. PMID 21970613.
  28. ^ a b Hayes JM, Budowle B, Freund M (September 1995). "Arab population data on the PCR-based loci: HLA-DQA1, LDLR, GYPA, HBGG, D7S8, Gc, and D1S80". Journal of Forensic Sciences. 40 (5): 888–892. doi:10.1520/JFS15404J. PMID 7595333.
  29. ^ a b Ollier W, Doyle P, Alonso A, Awad J, Williams E, Gill D, et al. (February 1985). "HLA polymorphisms in Saudi Arabs". Tissue Antigens. 25 (2): 87–95. doi:10.1111/j.1399-0039.1985.tb00420.x. PMID 3857723.
  30. ^ a b Hunter-Zinck H, Musharoff S, Salit J, Al-Ali KA, Chouchane L, Gohar A, et al. (July 2010). "Population genetic structure of the people of Qatar". American Journal of Human Genetics. 87 (1): 17–25. doi:10.1016/j.ajhg.2010.05.018. PMC 2896773. PMID 20579625.
  31. ^ a b Shaat N, Ekelund M, Lernmark A, Ivarsson S, Nilsson A, Perfekt R, et al. (May 2004). "Genotypic and phenotypic differences between Arabian and Scandinavian women with gestational diabetes mellitus". Diabetologia. 47 (5): 878–884. doi:10.1007/s00125-004-1388-5. PMID 15095040.
  32. ^ a b c d Haber M, Gauguier D, Youhanna S, Patterson N, Moorjani P, Botigué LR, et al. (14 October 2016). "Genome-wide diversity in the levant reveals recent structuring by culture". PLOS Genetics. 9 (2): e1003316. doi:10.1371/journal.pgen.1003316. PMC 3585000. PMID 23468648.
  33. ^ a b Henn BM, Botigué LR, Gravel S, Wang W, Brisbin A, Byrnes JK, et al. (January 2012). "Genomic ancestry of North Africans supports back-to-Africa migrations". PLOS Genetics. 8 (1): e1002397. doi:10.1371/journal.pgen.1002397. PMC 3257290. PMID 22253600.
  34. ^ Lazaridis I, Nadel D, Rollefson G, Merrett DC, Rohland N, Mallick S, et al. (August 2016). "Genomic insights into the origin of farming in the ancient Near East". Nature. 536 (7617): 419–424. Bibcode:2016Natur.536..419L. doi:10.1038/nature19310. PMC 5003663. PMID 27459054.
  35. ^ Shriner D (2018). "Re-analysis of Whole Genome Sequence Data From 279 Ancient Eurasians Reveals Substantial Ancestral Heterogeneity". Frontiers in Genetics. 9: 268. doi:10.3389/fgene.2018.00268. PMC 6062619. PMID 30079081.
  36. ^ Dobon, Begoña; Hassan, Hisham Y.; Laayouni, Hafid; Luisi, Pierre; Ricaño-Ponce, Isis; Zhernakova, Alexandra; Wijmenga, Cisca; Tahir, Hanan; Comas, David; Netea, Mihai G.; Bertranpetit, Jaume (2015-05-28). "The genetics of East African populations: a Nilo-Saharan component in the African genetic landscape". Scientific Reports. 5: 9996. Bibcode:2015NatSR...5E9996D. doi:10.1038/srep09996. ISSN 2045-2322. PMC 4446898. PMID 26017457.
  37. ^ Arauna LR, Comas D (2017-09-15). "Genetic Heterogeneity between Berbers and Arabs". eLS: 1–7. doi:10.1002/9780470015902.a0027485. ISBN 9780470016176.
  38. ^ Kidd, Kenneth K.; Kidd, Judith R.; Rajeevan, Haseena; Soundararajan, Usha; Bulbul, Ozlem; Truelsen, Ditte Mikkelsen; Pereira, Vania; Almohammed, Eida Khalaf; Hadi, Sibte (2019-07-08). "Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs". European Journal of Human Genetics. 27 (12): 1885–1893. doi:10.1038/s41431-019-0466-6. ISSN 1476-5438. PMC 6871633. PMID 31285530.
  39. ^ Pakstis AJ, Gurkan C, Dogan M, Balkaya HE, Dogan S, Neophytou PI, et al. (December 2019). "Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs". European Journal of Human Genetics. 27 (12): 1885–1893. doi:10.1038/s41431-019-0466-6. PMC 6871633. PMID 31285530.
  40. ^ Haber M, Mezzavilla M, Bergström A, Prado-Martinez J, Hallast P, Saif-Ali R, et al. (December 2016). "Chad Genetic Diversity Reveals an African History Marked by Multiple Holocene Eurasian Migrations". American Journal of Human Genetics. 99 (6): 1316–1324. doi:10.1016/j.ajhg.2016.10.012. PMC 5142112. PMID 27889059.
  41. ^ Hodgson, Jason A. (2014). "Early Back-to-Africa Migration into the Horn of Africa". PLOS Genetics. 10 (6): e1004393. doi:10.1371/journal.pgen.1004393. PMC 4055572. PMID 24921250.
  42. ^ Almarri, Mohamed A.; Haber, Marc; Lootah, Reem A.; Hallast, Pille; Al Turki, Saeed; Martin, Hilary C.; Xue, Yali; Tyler-Smith, Chris (2021-09-02). "The genomic history of the Middle East". Cell. 184 (18): 4612–4625.e14. doi:10.1016/j.cell.2021.07.013. ISSN 1097-4172. PMC 8445022. PMID 34352227.
  43. ^ "Arabs bear brunt of Genetic Disorders". Thenational.ae. 22 September 2009. Retrieved 2013-09-09.
  44. ^ a b Borgio, JF (27 December 2021). "Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing". Archives of Medical Sciences. 19 (3): 765–783. doi:10.5114/aoms/145370. PMC 10259412. PMID 37313193.
  45. ^ "Centre for Arab Genomic Studies".
  46. ^ Tadmouri GO. "Centre for Arab Genomic Studies (CAGS) -> Publications". CAGS. Retrieved 2013-09-09.
  47. ^ Tadmouri GO. "Genetic Disorders in Arab Populations" (PDF). www.cags.org.ae. Archived from the original on 2012-02-29. Retrieved 2013-09-09.{{cite web}}: CS1 maint: bot: original URL status unknown (link)
  48. ^ "Genetic Disorders in Arab Populations" (PDF). Cags.org.ae. Retrieved 2013-09-09.
  49. ^ Ghazi Omar Tadmouri. "Centre for Arab Genomic Studies (CAGS) -> CTGA Database - Static". CAGS. Retrieved 2013-09-09.
  50. ^ Teebi AS, Farag TI (1997). Genetic Disorders Among Arab Populations. Oxford University Press. ISBN 978-0-19-509305-6.
  51. ^ Petherick A (June 2013). "MERS-CoV: in search of answers". Lancet. 381 (9883): 2069. doi:10.1016/S0140-6736(13)61228-3. PMC 7138063. PMID 23776959.
  52. ^ Thurmon TF (5 March 1974). Rare genetic diseases: a guidebook. CRC Press. ISBN 978-0-87819-039-3.
  53. ^ Abel EL (1 January 2003). Arab Genetic Disorders: A Layman's Guide. McFarland. ISBN 978-0-7864-1463-5.
  54. ^ Elhazmi; et al. (1996). "Genetic disorders among Arabic populations". Saudi Medical Journal. 17 (2): 108–123. ISSN 0379-5284. INIST 3144570.
  55. ^ El-Hazmi MA, Al-Hazmi AM, Warsy AS (November 2011). "Sickle cell disease in Middle East Arab countries". The Indian Journal of Medical Research. 134 (5): 597–610. doi:10.4103/0971-5916.90984. PMC 3249957. PMID 22199098.
  56. ^ Shalev O, Leibowitz G, Brok-Simoni F (June 1994). "[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]". Harefuah. 126 (12): 699–702, 764, 763. PMID 7927011.
  57. ^ Koenig R (July 2003). "Teebi hypertelorism syndrome". Clinical Dysmorphology. 12 (3): 187–189. doi:10.1097/01.mcd.0000077563.66911.c4. PMID 14564158. S2CID 30753495.
  58. ^ "Genetic diseases studies on Arabic world". Jeans4genes.org. Archived from the original on 2017-08-11. Retrieved 2013-09-09.
  59. ^ a b Teebi AS. "CTGA: The Database for Genetic Disorders in Arabs" (PDF). Archived from the original (PDF) on 8 March 2014.
  60. ^ "Genetic Diseases Studies in Arabic Countries". Jeans4genes.org. Archived from the original on 2017-08-11. Retrieved 2013-09-09.
  61. ^ "Arab Information Center for Genetic Counseling". Jeans4genes.org. Archived from the original on 2019-06-21. Retrieved 2013-09-09.
  62. ^ Kraft D (Mar 21, 2006). "A hunt for genes that betrayed a desert people". The New York Times on the Web. pp. F1, F4. PMID 16649272.
  63. ^ Zlotogora J (May 2002). "Molecular basis of autosomal recessive diseases among the Palestinian Arabs". American Journal of Medical Genetics. 109 (3): 176–182. doi:10.1002/ajmg.10328. PMID 11977175.
  64. ^ Lagoumintzis G, Poulas K, Patrinos GP (2010). "Genetic databases and their potential in pharmacogenomics". Current Pharmaceutical Design. 16 (20): 2224–2231. doi:10.2174/138161210791792804. PMID 20459387.
  65. ^ Zlotogora J, van Baal S, Patrinos GP (October 2007). "Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database". Human Mutation. 28 (10): 944–949. doi:10.1002/humu.20551. PMID 17492749. S2CID 20616020.
  66. ^ Tadmouri GO, Al Ali MT, Al-Haj Ali S, Al Khaja N (January 2006). "CTGA: the database for genetic disorders in Arab populations". Nucleic Acids Research. 34 (Database issue): D602–D606. doi:10.1093/nar/gkj015. PMC 1347378. PMID 16381941.
  67. ^ Zlotogora J, Barges S, Bisharat B, Shalev SA (August 2006). "Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community". American Journal of Medical Genetics. Part A. 140 (15): 1644–1646. doi:10.1002/ajmg.a.31342. PMID 16830330. S2CID 5859352.
  68. ^ Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA (January 2005). "Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders". Nucleic Acids Research. 33 (Database issue): D514–D517. doi:10.1093/nar/gki033. PMC 539987. PMID 15608251.
  69. ^ Tadmouri GO, Gulen RI (November 2003). "Deniz: the electronic database for beta-thalassemia mutations in the Arab world". Saudi Medical Journal. 24 (11): 1192–1198. PMID 14647552.
  70. ^ Zlotogora J, van Baal S, Patrinos GP (June 2009). "The Israeli National Genetic Database". The Israel Medical Association Journal. 11 (6): 373–375. PMID 19697591.
  71. ^ Teebi AS, Teebi SA, Porter CJ, Cuticchia AJ (June 2002). "Arab genetic disease database (AGDDB): a population-specific clinical and mutation database". Human Mutation. 19 (6): 615–621. doi:10.1002/humu.10082. PMID 12007218. S2CID 40125498.
  72. ^ Zlotogora J (November 2010). "The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel". Human Genetics. 128 (5): 473–479. doi:10.1007/s00439-010-0890-8. PMID 20852892. S2CID 20782950.
  73. ^ Rosler A (August 2006). "17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population". Pediatric Endocrinology Reviews. 3 (Suppl 3): 455–461. PMID 17551466. Affected individuals are born with ambiguity of the external genitalia and reared as females until puberty, found in Palestinians
  74. ^ "The 5th pan arab genetics conference website". Archived from the original on 2019-10-13. Retrieved 2013-07-11.
  75. ^ Bowron A (5 July 2013). "Laboratory diagnosis of inherited metabolic diseases". Annals of Clinical Biochemistry. 50 (5): 511–512. doi:10.1177/0004563213495141.
  76. ^ Hernandez MA, Schulz R, Chaplin T, Young BD, Perrett D, Champion MP, et al. (December 2010). "The diagnosis of inherited metabolic diseases by microarray gene expression profiling". Orphanet Journal of Rare Diseases. 5: 34. doi:10.1186/1750-1172-5-34. PMC 3009951. PMID 21122112.
  77. ^ Tadmouri, Gazi (2014). "Arab gene geography: From population diversities to personalized medical genomics". Glob Cardiol Sci Pract. 2014 (4): 394–408. doi:10.5339/gcsp.2014.54. PMC 4355514. PMID 25780794.
  78. ^ "Genetic disorders in arabs" (PDF). Archived from the original (PDF) on 2016-03-06. Retrieved 2013-07-06.
  79. ^ "founder effect". Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics (Seventh ed.). 2020.
  80. ^ Puffenberger, Erik (2021). "Recessive diseases and founder genetics". Genomics of Rare Diseases.
  81. ^ Romdhane, Lilia (21 August 2012). "Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East". Orphanet Journal of Rare Diseases. 7: 52. doi:10.1186/1750-1172-7-52. PMC 3495028. PMID 22908982.
  82. ^ "The prevention of congenital and genetic disorders in the Eastern Mediterranean Region" (PDF). Eastern Mediterranean Health Journal. London. 29 July 2016.
  83. ^ Van Roij, M. H.; Mizumoto, S.; Yamada, S.; Morgan, T.; Tan-Sindhunata, M. B.; Meijers-Heijboer, H.; Verbeke, J. I.; Markie, D.; Sugahara, K.; Robertson, S. P. (2008), "Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype", American Journal of Medical Genetics. Part A, 146A (18): 2376–2384, doi:10.1002/ajmg.a.32482, PMID 18698629, S2CID 22219652

Further reading[edit]

  • Teebi AS (2010). Genetic Disorders Among Arab Populations (2nd ed.). Berlin, Heidelberg: Springer. ISBN 978-3-642-43475-4.

External links[edit]