Tags

Type your tag names separated by a space and hit enter

Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.
Ann Hum Genet. 2004 May; 68(Pt 3):189-95.AH

Abstract

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.

Authors+Show Affiliations

Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, 1/AF Bidhan Nagar, Kolkata: 700 064, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15180699

Citation

Chattopadhyay, B, et al. "Molecular Analysis of GAA Repeats and Four Linked Bi-allelic Markers in and Around the Frataxin Gene in Patients and Normal Populations From India." Annals of Human Genetics, vol. 68, no. Pt 3, 2004, pp. 189-95.
Chattopadhyay B, Gupta S, Gangopadhyay PK, et al. Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India. Ann Hum Genet. 2004;68(Pt 3):189-95.
Chattopadhyay, B., Gupta, S., Gangopadhyay, P. K., Das, S. K., Roy, T., Mukherjee, S. C., Sinha, K. K., Singhal, B. S., & Bhattacharyya, N. P. (2004). Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India. Annals of Human Genetics, 68(Pt 3), 189-95.
Chattopadhyay B, et al. Molecular Analysis of GAA Repeats and Four Linked Bi-allelic Markers in and Around the Frataxin Gene in Patients and Normal Populations From India. Ann Hum Genet. 2004;68(Pt 3):189-95. PubMed PMID: 15180699.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India. AU - Chattopadhyay,B, AU - Gupta,S, AU - Gangopadhyay,P K, AU - Das,S K, AU - Roy,T, AU - Mukherjee,S C, AU - Sinha,K K, AU - Singhal,B S, AU - Bhattacharyya,N P, PY - 2004/6/8/pubmed PY - 2004/9/17/medline PY - 2004/6/8/entrez SP - 189 EP - 95 JF - Annals of human genetics JO - Ann Hum Genet VL - 68 IS - Pt 3 N2 - 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. SN - 0003-4800 UR - https://www.unboundmedicine.com/medline/citation/15180699/Molecular_analysis_of_GAA_repeats_and_four_linked_bi_allelic_markers_in_and_around_the_frataxin_gene_in_patients_and_normal_populations_from_India_ L2 - https://doi.org/10.1046/j.1529-8817.2003.00087.x DB - PRIME DP - Unbound Medicine ER -