A review on the origin and spread of deleterious mutants of the β-globin gene in Indian populations

摘要: Summary Deleterious mutations of the human β-globin gene are responsible for β-thalassaemia and other haemoglobinopathies, which most common genetic diseases in Indian populations. A highly heterogeneous distribution those is observed India certain restricted to some extent particular groups only. The reasons behind geographical clustering origin a debated issue evidence conflicting. Our present article aims at tracing deleterious mutation evaluates role different evolutionary forces spread populations, using data from molecular biology statistical methods. Mutations generated essentially randomly, but «hot-spot» sites reported cluster, indicating sequence dependency mutation. single mutation, followed by recombination (in hot spot region) and/or interallelic conversion (within gene) through time plausible hypothesis explain association with multiple haplotype backgrounds frameworks. It suggested that place HbE HbD they dispersed parts would migration. HbS mutants populations not Middle East rather fresh probable explanation prevalence among tribal groups. represents heterogenenous group mutant alleles India. Five twelve rare have been variable frequencies Gene flow world political, military commercial interactions possibly accounts heterogenous nature b-thalassaemia Indians. allelic polymorphic system b-globin exists Dynamic interaction presence selective including falciparum malaria biosocial patterns discussed order maintenance alleles.