Document Detail

Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.
MedLine Citation:
PMID:  15180699     Owner:  NLM     Status:  MEDLINE    
Friedreich ataxia (FRDA), the most common type of ataxia worldwide, is an autosomal recessive disease. Homozygous expansion of GAA repeats in the first intron of the frataxin gene constitute the major type of mutation that causes the disease. The prevalence of FRDA in diverse ethnic populations of India has not been widely studied. We have studied the distribution of polymorphic GAA repeats in the frataxin gene among 6 clinically diagnosed patients and 160 ethnically matched normal individuals, to gather information on the prevalence of FRDA in the eastern part of India. Homozygous expansion in the range of 250-730 GAA repeats was detected among the patients. Among normal individuals, we observed a unimodal distribution of GAA repeats, consisting of 10 different alleles ranging from 7 to 16 GAA repeats, where the 9 repeat allele had maximal frequency. Only 5.9% of all chromosomes were found to harbour >12 GAA repeats. Haplotype analysis using closely linked four bi-allelic markers in and around the frataxin gene indicated that 66.7% of the expanded alleles harbour the ATCC haplotype that has been reported worldwide. This haplotype was present in 53.3% of the chromosomes with >12 GAA repeats, and accounted for only 3.8% of chromosomes with 7 to 12 GAA repeats. We found one novel haplotype, ACCT, among the expanded alleles as well as among normal individuals, though at low frequency; this haplotype may be characteristic of Indian populations.
B Chattopadhyay; S Gupta; P K Gangopadhyay; S K Das; T Roy; S C Mukherjee; K K Sinha; B S Singhal; N P Bhattacharyya
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of human genetics     Volume:  68     ISSN:  0003-4800     ISO Abbreviation:  Ann. Hum. Genet.     Publication Date:  2004 May 
Date Detail:
Created Date:  2004-06-07     Completed Date:  2004-09-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0416661     Medline TA:  Ann Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  189-95     Citation Subset:  IM    
Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, 1/AF Bidhan Nagar, Kolkata: 700 064, India.
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MeSH Terms
Case-Control Studies
Friedreich Ataxia / epidemiology,  genetics*
Gene Frequency
Genetic Markers
Haplotypes / genetics*
India / epidemiology
Iron-Binding Proteins / genetics*
Polymorphism, Genetic / genetics*
Trinucleotide Repeat Expansion / genetics*
Reg. No./Substance:
0/Genetic Markers; 0/Iron-Binding Proteins; 0/frataxin

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