The spectrum of beta thalassaemia mutations in the UAE national population.

Abstract

The a1 thalassaemia alleles in 501p thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the polymerase chain reaction (PCR). The IVSI-5 (G-.C) mutation was found to be present in 66%, while six other alleles occurred at the much lower frequencies of 2% to 8%. These were codon 8/9 (+ G), IVSI-1, 3' end (-25 bp), codon 5 (-CT), IVSII-1 (G-)A), codon 30 (G-+C), and codon 15 (G-A). The mutation types and percentages are compared with other Mediterranean Arab countries and neighbouring areas. It is proposed that IVSI-5 and other Asian Indian mutations were introduced into the UAE by population migration from the region previously known as Baluchistan. These findings should be useful for genetic counselling and the development of a first trimester prenatal diagnosis programme based on direct detection of mutations in the UAE.

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

“…The Persian groups obtained from previous studies also display high degrees of similarity with the Peninsular Arabs; however, they all exhibit greater contribution from adjacent populations especially with groups from Caucasia. 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.…”

“…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).…”

Spectrum of β‐thalassemia in Jordan: Identification of two novel mutations

“…Although the common frequent alleles in Jordan are generally similar to those found in other countries in the region, many rare alleles reported in the region were not detected in this study. These included codon 29 (C>T) reported in Lebanon and Yugoslavia [24,25,35], the 290-bp deletion reported in Lebanon, Syria, and Turkey [24][25][26][31][32][33], the 25-bp deletion reported in Lebanon, West Saudi Arabia, Kuwait, and United Arab Emirates (UAE) [16][17][18]24,25,[36][37][38], the Saudi Arabian IVS1-128 (T>G) [39], codon 44 (-C) reported in Kurdish Jews, UAE, and Tunisia [34,37,38,40], and the frame shift at codons 8/9 (+G) reported in Saudi Arabia, Kuwait, and Jordanians living in Saudi Arabia [17,18,36].…”

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

“…The most common mutation is IVS-1-5G4C (c.9215G4C), which is known to exist at very high frequencies in the Indian subcontinent but not among Middle Eastern Arabs. It is very likely that this allele was introduced to the Arabian Peninsula by migration from Baluchistan [Quaife et al, 1994]. …”

“…There has also been a continuous influx of Baluchis to the UAE over many centuries. These people have a history stretching back over 2,000 years and originated from Baluchistan, which is a large area on the other side of the Strait of Hormuz, currently divided between Iran, Afghanistan, and Pakistan [Quaife et al, 1994]. Although many of the UAE Baluchis are UAE nationals, they remain isolated with a high level of inbreeding.…”