DNA haplotypes and frameworks associated with the beta-globin gene in the Kachari population of Assam (India).

DNA haplotypes and frameworks associated with the beta-globin gene were determined in a Tibeto-Burman group, the Kachari, from Upper Assam, India, using restriction analysis at eight restriction sites. Of the total of 59 subjects, 26 were homozygous for HBBA and 33 homozygous for HBBE. Complete haplotype determination in 33 subjects revealed a conspicuous difference in haplotype distribution between HBBA- and HBBE-bearing chromosomes. The Southeast Asian HBBE-associated haplotype -+- +- (27-2 in the present terminology) predominated on HBBE chromosomes. The previously established beta-globin-associated frameworks 1, 2 and 3 were evenly distributed among the HBBA chromosomes, whereas all HBBE chromosomes had framework 2. These findings favor a common origin of the HBB*E gene in Southeast Asia and Assam.