?-Globin gene linked DNA haplotypes and frameworks in three South-East Asian populations

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Abstract
DNA haplotypes and frameworks (numbers in parenthesis) linked to the β-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal β-globin gene (HBB*A) and 108 (118) chromosomes bearing HBB*E in subjects homozygous for HBB*A or HBB*E from three South-East Asian populations with high HBB*E frequencies (northern Thailand, north-eastern Thailand and Cambodia). A systematic nomenclature for β-globin gene-linked haplotype characterized by six polymorphic sites is introduced. In all populations, HBB*A occurred preferentially (>80%) in linkage with the haplotype 41 (+----+) and all three frameworks described by Antonarakis et al. (1982). In contrast, almost 80% of the HBB*E genes occurred with the haplotype 27 (-+-+++). In northern and north-eastern Thailand, HBB*E was present almost exclusively in framework 2; HBB*E in framework 3 (Asian) was limited to the Khmer population of Cambodia, and the frequency of HBB* E-linked framework 3 increased from the west to the east in this country.