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Human Genetics

, Volume 90, Issue 4, pp 443–449 | Cite as

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

  • Nermeen Y. Varawalla
  • Alison C. Fitches
  • John M. Old
Original Investigations

Abstract

β-globin gene haplotypes were determined for 196 normal (β-A) and 419 thalassaemia (β-Th) chromosomes of individuals from four different regions of the Indian subcontinent; North-west Pakistan, Gujarat, Punjab and Sindh. Analysis of β-A and β-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 β-thalassaemia mutations on the Indian subcontinent. The data are consistent with relatively recent and local origins for most β-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 β-thalassaemia in this region reflects considerable ethnic diversity, gene flow from population migration and natural selection by malaria infection.

Keywords

Codon Frequency Allele Malaria Gene Flow Natural Selection 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • Nermeen Y. Varawalla
    • 1
  • Alison C. Fitches
    • 1
  • John M. Old
    • 1
  1. 1.Institute of Molecular Medicine, John Radcliffe HospitalOxfordUK

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