The Spectrum of <i>β</i>‐Thalassemia Mutations in the Arab Populations

Zahed, Laïla

doi:10.1155/s1110724301000298

Cited by 79 publications

(78 citation statements)

References 25 publications

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“…These genetic affinities are also evident in the MDS projection (Figure 2a) in which all the Iranian populations plot between the Arab collections, and the Levant-Anatolia and the 72 Similarly, the Balochis under the leadership of Iranian Gedrassians 73,74 are believed to have traversed the Strait of Hormuz into the Arabian range and are considered responsible for introducing Asian/Indian-specific b-thalassaemia mutations into the Peninsula. 73,75 These military campaigns are Y-chromosome-driven migrations of minimal mtDNA impact. However, the effect of these migrations is not well understood, and the degree of similarities between the Peninsular Arabs and the Iranians suggests widespread (involving the movement of large numbers of individuals) rather than discreet (a few scattered communities) migratory waves (Figure 2a; Table 3).…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian Peninsula

et al. 2011

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Modern day Iran is strategically located in the tri-continental corridor uniting Africa, Europe and Asia. Several ethnic groups belonging to distinct religions, speaking different languages and claiming divergent ancestries inhabit the region, generating a potentially diverse genetic reservoir. In addition, past pre-historical and historical events such as the out-of-Africa migrations, the Neolithic expansion from the Fertile Crescent, the Indo-Aryan treks from the Central Asian steppes, the westward Mongol expansions and the Muslim invasions may have chiseled their genetic fingerprints within the genealogical substrata of the Persians. On the other hand, the Iranian perimeter is bounded by the Zagros and Albrez mountain ranges, and the Dasht-e Kavir and Dash-e Lut deserts, which may have restricted gene flow from neighboring regions. By utilizing high-resolution mitochondrial DNA (mtDNA) markers and reanalyzing our previously published Y-chromosomal data, we have found a previously unexplored, genetic connection between Iranian populations and the Arabian Peninsula, likely the result of both ancient and recent gene flow. Furthermore, the regional distribution of mtDNA haplogroups J, I, U2 and U7 also provides evidence of barriers to gene flow posed by the two major Iranian deserts and the Zagros mountain range.

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Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian Peninsula

et al. 2011

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“…Molecular studies of HbS indicate an independent mutation (Arab-Indian haplotype) that occurred in eastern Saudi Arabia and the Indian subcontinent, spreading from there to other parts of the Arab world; while the genes in Western Saudi Arabia and North Africa are believed to have been conveyed from Benin and Senegal in Africa [1,9]. No specifi c ␤ -thalassemia mutations are confi ned to the Arabs, and the Mediterranean and Asian mutations are encountered at variable frequencies refl ecting the geographical and historical background of each region [10] .…”

Section: Hemoglobinopathiesmentioning

confidence: 99%

Genetic Diversity among the Arabs

Teebi

2005

Public Health Genomics

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The Arabs in general are genetically diverse. Major factors that contributed to their diversity include the migrations of Semitic tribes from the Arabian Peninsula, the Islamic expansion in the 7th century AD, the Crusade wars and the recent migration dynamics. These events have resulted in the admixture of the original Arabs with other populations extending from east and south Asia to Europe and Africa. Their demographic features include high rates of consanguinity, a large family size and a rapid population growth. There is a high frequency of autosomal recessive disorders and increased frequencies of homozygosity for autosomal dominant traits, such as familial hypercholesterolemia and X-linked traits, such as glucose-6-phosphate dehydrogenase deficiency. The patterns of autosomal recessive disorders, including their mutations, may be different in various geographic locations within the Arab world. However, there are disorders that are specifically prevalent among the Arabs either uniformly or in certain locations. The Arab Genetic diseases include Bardet-Biedl syndrome, Meckel syndrome, autosomal recessive severe childhood muscular dystrophy, osteopetrosis and renal tubular acidosis, Sanjad-Sakati syndrome and others.

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“…The Maldivian population has been reported to have a spectrum of mutations similar to that in the Indian population, and the common mutations detected by RDB analysis in our study constituted all of the alleles. Although Oman has certain common Indian mutations prevalent in the population, these mutations constituted only 65% of the alleles (10 ). Application of an efficient mutation detection method for unknown mutations was necessary in those samples in which common mutations were not detected.…”

Section: Discussionmentioning

confidence: 99%

Rapid Detection of β-Globin Gene Mutations and Polymorphisms by Temporal Temperature Gradient Gel Electrophoresis

et al. 2003

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Background: Inherited hemoglobin disorders represent the most common Mendelian disease worldwide. Prevention programs based on molecular diagnosis of heterozygous carriers and/or patients require the use of reliable mutation scanning methods in at-risk populations. Methods: We developed a rapid and highly specific mutation-screening test based on temporal temperature gradient gel electrophoresis (TTGE). We analyzed 889 ␤-thalassemia genes from homozygous ␤-thalassemia patients and unrelated individuals with heterozygous ␤-thalassemia. Previously reported common mutations were screened by reverse dot blots using allele-specific probes. The rare mutations were analyzed by TTGE. Results: We found common mutations in 753 ␤-thalassemia genes. TTGE analysis in the rest of the genes showed the presence of mutations in different regions of the ␤-globin gene in 134 of them, and these mutations were characterized by DNA sequencing. In the two genes in which mutations were not identified, large deletions spanning ␤-globin gene were suspected. Conclusions: Compared with other approaches for comprehensive mutation screening, the reported method is rapid, highly sensitive, cost-effective, and suitable for high-throughput screening of a large number of samples.

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The Spectrum of β‐Thalassemia Mutations in the Arab Populations

Cited by 79 publications

References 25 publications

Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian Peninsula

Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian Peninsula

Genetic Diversity among the Arabs

Rapid Detection of β-Globin Gene Mutations and Polymorphisms by Temporal Temperature Gradient Gel Electrophoresis

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