Sickle cell gene haplotypes in Relli and Thurpu Kapu populations of AndhraPradesh

Citation
Gv. Ramana et al., Sickle cell gene haplotypes in Relli and Thurpu Kapu populations of AndhraPradesh, HUMAN BIOL, 72(3), 2000, pp. 535-540
Citations number
24
Categorie Soggetti
Medical Research General Topics
Journal title
HUMAN BIOLOGY
ISSN journal
00187143 → ACNP
Volume
72
Issue
3
Year of publication
2000
Pages
535 - 540
Database
ISI
SICI code
0018-7143(200006)72:3<535:SCGHIR>2.0.ZU;2-4
Abstract
We performed polymerase chain reaction analysis of 8 restriction-site polym orphisms in the P-globin gene cluster to define haplotypes and provide hema tological profiles of Relli and Thurpu Kapu caste populations in Andhra Pra desh, India. Ln all sickle cell homozygous subjects, the clinical manifesta tion of the disease is benign with elevated fetal hemoglobin levels (3.9%-2 1.1%). Clinical symptoms in some of the sickle cell homozygous subjects inc lude jaundice, leg ulcers, and splenomegaly, Molecular analysis of the sick le cell gene (HBB*S) reveals the presence of the ubiquitous Arab-Indian hap lotype in both populations. We encountered, for the first time, a rare, aty pical haplotype (+-------) in a sickle cell homozygous individual of the Th urpu Kapu population, presumably the result of gene conversion.