Document Detail

Sickle cell gene haplotypes in Relli and Thurpu Kapu populations of Andhra Pradesh.
MedLine Citation:
PMID:  10885199     Owner:  NLM     Status:  MEDLINE    
We performed polymerase chain reaction analysis of 8 restriction-site polymorphisms in the beta-globin gene cluster to define haplotypes and provide hematological profiles of Relli and Thurpu Kapu caste populations in Andhra Pradesh, India. In all sickle cell homozygous subjects, the clinical manifestation of the disease is benign with elevated fetal hemoglobin levels (3.9%-21.1%). Clinical symptoms in some of the sickle cell homozygous subjects include jaundice, leg ulcers, and splenomegaly. Molecular analysis of the sickle cell gene (HBB*S) reveals the presence of the ubiquitous Arab-Indian haplotype in both populations. We encountered, for the first time, a rare, atypical haplotype ((+)-------) in a sickle cell homozygous individual of the Thurpu Kapu population, presumably the result of gene conversion.
G V Ramana; G R Chandak; L Singh
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human biology     Volume:  72     ISSN:  0018-7143     ISO Abbreviation:  Hum. Biol.     Publication Date:  2000 Jun 
Date Detail:
Created Date:  2000-08-08     Completed Date:  2000-08-08     Revised Date:  2011-04-18    
Medline Journal Info:
Nlm Unique ID:  0116717     Medline TA:  Hum Biol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  535-40     Citation Subset:  IM    
Centre for Cellular and Molecular Biology, Hyderabad, India.
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MeSH Terms
Anemia, Sickle Cell / blood,  genetics*
Ethnic Groups / genetics*
European Continental Ancestry Group / genetics
Gene Frequency
Haplotypes / genetics
Hemoglobin, Sickle / genetics*
Mutation / genetics*
Polymerase Chain Reaction
Sampling Studies
Reg. No./Substance:
0/Hemoglobin, Sickle

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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