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Analysis of β-globin gene haplotypes in Asian Indians: origin and spread of β-thalassaemia on the Indian subcontinent

✍ Scribed by Nermeen Y. Varawalla; Alison C. Fitches; John M. Old

Publisher: Springer
Year: 1992
Tongue: English
Weight: 616 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00220475

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✦ Synopsis

beta-globin gene haplotypes were determined for 196 normal (beta-A) and 419 thalassaemia (beta-Th) chromosomes of individuals from four different regions of the Indian subcontinent; North-west Pakistan, Gujarat, Punjab and Sindh. Analysis of beta-A and beta-Th haplotypes and haplotype-mutation associations in each regional group along with a consideration of Indian history provided information about the origin and spread of beta-thalassaemia mutations on the Indian subcontinent. The data are consistent with relatively recent and local origins for most beta-thalassaemia mutations. The frequencies of particular alleles differ markedly in various regions and these may be useful population markers. Of the high frequency alleles, intervening sequence 1 (IVS-1) nucleotide 5 (G-C) and codons 41/42 (-CTTT) appear to be older as suggested by multiple haplotype associations and a widespread geographical distribution. The microepidemiology of beta-thalassaemia in this region reflects considerable ethnic diversity, gene flow from population migration and natural selection by malaria infection.

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