Restriction endonuclease analysis of DNA in sickle cell lesions among tribals of Bihar, Madhya Pradesh, Gujarat & Rajasthan.

Restriction endonuclease analysis of DNA was undertaken in blood samples from individuals who were normal (110), had sickle cell trait (44) and homozygous sickle cell disease (6) from the tribal populations of Bihar, Madhya Pradesh, Gujarat and southern Rajasthan. DNA was prepared from all the blood samples and processed for restriction enzyme digestion, agarose electrophoresis, prehybridization, Nick-translation hybridization and autoradiography. A polymorphic HpaI restriction endonuclease recognition site on the 3' side of the beta-globin gene was used to analyse to determine the beta-globin gene mutant S. It was found that mutation has resulted within the normal 7.6 Kb HpaI fragment among the tribal populations studied. On comparing the results with those from Middle East and East Africa it appears that the sickle gene mutation in India, Saudi Arabia and Kenya arose separately from that in West Africa.