Introduction
edit220549516 2020852892 pmc 11977175 -3500166 20459387 17492749 http://onlinelibrary.wiley.com/doi/10.1002/humu.20551/pdf Centre for Arab Genomic Studies (CAGS) in Dubai (United Arab Emirates) reports Arabs suffer from one of the highest rates of genetic disease in the world. Some 906 genetic disorders have been identified in Arabs and their descendants, Several common diseases in the UAE, Oman and Bahrain have reached epidemic levels - more than 100 cases per 100,000. They include Thalassaemia (a blood disorder), Diabetes, Breast cancer and Down's syndrome. Some of the disorders have reached epidemic proportions like Sickle cell disorder, Heart diseases, Alpha Thalasemia, Diabitis Mellitus. Some of the main genetic diseases prevalent in Arab countries are hemoglobin disorders, birth defects, inherited metabolic diseases and neurogenetic disorder. hemoglobin disorders are sickle cell disease and thalassemia. Multiple pterygium syndrome, Down syndrome, microcephaly and Bardet-Biedl syndrome are examples of the disorders causing birth defects. Arab countries have the highest prevalence of birth defects in the world of neurogenetic disorders are Tourette's syndrome, Wilson's disease, Charcot-Marie-Tooth disease, mitochondrial encephalomyopathies and Niemann-Pick diseass
Genetic diseases Databases in Arabic countries
editSeveral organizations maintain databases for each arabic country.
CAGS is the main organization based in UAE. CAGS or the Centre for Arab Genomic Studies 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, centrally maintained in Dubai, hosts entries for nearly 1540 Mendelian disorders and related genes and this number is increasing as researchers are joining the largest Arab scientific effort to define genetic disorders described in the region. The Center promote research studies on the emergent disorders [6] Some of the challenges are: Hemoglobinopathy sickle cell anemia Glucose-6-phosphate dehydrogenase deficiency favabeans chorionic villus sampling (CVS)amniocentesis Fragile X syndrome (FXS) is an inherited genetic condition with critical consequences The Centre provide information about specific countries http://cags.org.ae/publications.html and maintain alist of Genomic diseases [1] [2] [3]
Specific rare Autosomal recessive diseases are high in Arabic countries like Bardet Biedhl syndrome, Meckel syndrome, congenital chloride diarria, Sever Child Autos Recessive Muscular Dystrophy (scarmd ) Lysosomal storage diseasesand PKU are high in the Gulf states. Dr Teebi's book provides detailed informations by country [7] http://www.voanews.com/content/study-indicates-merscov-is-not-yet-pandemic/1695502.html [8] Even the Middle East respiratory syndrome coronavirus (MERS-CoV) 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. [9]
Dr Thurman' guidebook about Rare genetic diseases [10] [11] [12] The highest proportion of the genetic disorders are congenital malformations followed by endocrine metabolic disorders and then by neuron disorders and then by blood% immune disorders and then neoplasms. The Mode of Inheritance is mainly autosomal recessive followed by autodsomal dominant BETA-THALASSEMIA MUTATIONS; SICKLE-CELL DISEASE; CONGENITAL HEART-DISEASE; WESTERN SAUDI-ARABIA; GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY; ALPHA-THALASSEMIA; MOLECULAR CHARACTERIZATION; RECESSIVE OSTEOPETROSIS; CONSANGUINEOUS MARRIAGE; GLUTATHIONE-REDUCTASE DEf. [13]
Genealogy and Geographic of Arabic genetic diseases:
editBare lymphocyte syndrome in high western Arabic block Morocco, type II Limb-girdle muscular dystrophy, type 2C in Lybia, Hemolytic-uremic syndrome in Saudia, Ankylosing spondylitis in Egypt &East block, Alpha-thalassemia in all countries minus egypt syria iraq, Cystic Fibrosis in iraq saudi yemen lybia morocco, Famylial Mideterranean Fevr fmf in east block and lybia morocco, beta Thalasemia in all countries, g6dh deficiency all countries.
Genetic studies on Arabs that lead to discoveries of New Syndromes
editTeebi type of Hypertelorism (1987) •• Teebi--Shaltoutsyndrome (1989) •• Al--Gazalisyndrome (1994) •• Megarbane syndrome (2001)
There are even new Arabic names for emerging genetic disorders& 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
Online Practical Guides for Genetic diseases
editReferences
edit- ^ Kraft, D (2006 Mar 21). "A hunt for genes that betrayed a desert people". The New York Times on the Web: F1, F4. PMID 16649272.
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(help) - ^ Zlotogora, J (2002 May 1). "Molecular basis of autosomal recessive diseases among the Palestinian Arabs". American Journal of Medical Genetics. 109 (3): 176–82. doi:10.1002/ajmg.10328. PMID 11977175.
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(help) - ^ Lagoumintzis, G (2010). "Genetic databases and their potential in pharmacogenomics". Current Pharmaceutical Design. 16 (20): 2224–31. doi:10.2174/138161210791792804. PMID 20459387.
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suggested) (help) - ^ Zlotogora, Joël; Van Baal, Sjozef; Patrinos, George P. (2007 Oct). "Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database". Human Mutation. 28 (10): 944–9. doi:10.1002/humu.20551. PMID 17492749. S2CID 20616020.
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(help) - ^ "Arabs bear brunt of Genetic Disorders".
- ^ "Centre for Arab Genomic Studies".
- ^ Teebi, Ahmad S.; Farag, Talaat I. (1997). Genetic Disorders Among Arab Populations. Oxford University Press. ISBN 978-0-19-509305-6.
- ^ Rosler, A (2006 Aug). "17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population". Pediatric Endocrinology Reviews : PER. 3 (Suppl 3): 455–61. PMID 17551466.
Affected individuals are born with ambiguity of the external genitalia and reared as females until puberty, found in Palestinians
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(help) - ^ Petherick, A (2013 Jun 15). "MERS-CoV: in search of answers". Lancet. 381 (9883): 2069. doi:10.1016/S0140-6736(13)61228-3. PMID 23776959. S2CID 3331331.
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(help) - ^ Thurmon, Theodore F. (5 March 1974). Rare genetic diseases: a guidebook. CRC Press. ISBN 978-0-87819-039-3.
- ^ Abel, Ernest L. (1 January 2003). Arab Genetic Disorders: A Layman's Guide. McFarland. ISBN 978-0-7864-1463-5.
- ^ Elhazmi; et al. (1996). "Genetic disorders among Arabic populations". Saudi Medical Journal. 17 (2): 108–123. ISSN 0379-5284.
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(help) - ^ El-Hazmi, Mohsena.F.; Warsy, Arjumands; Al-Hazmi, Alim (1 January 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.
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