Document Detail


Molecular analysis of Friedreich's ataxia locus in the Indian population.
MedLine Citation:
PMID:  11071107     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in the frataxin gene. We have carried out the first molecular analysis at the Friedreich's ataxia locus in the Indian population. MATERIALS AND METHODS: Three families clinically diagnosed for Friedreich's ataxia were analyzed for GAA expansion at the FRDA locus. The distribution of GAA repeats was also estimated in normal individuals of Indian origin. RESULTS: All patients clinically diagnosed for Friedreich's ataxia were found to be homozygous for GAA repeat expansion. The GAA repeat in the normal population show a bimodal distribution with 94% of alleles ranging from 7-16 repeats. CONCLUSION: Indian patients with expansion at the FRDA locus showed typical clinical features of Friedreich's ataxia. The low frequency of large normal alleles (6%) could indicate that the prevalence of this disease in the Indian population is likely to be low.
Authors:
M Mukerji; S Choudhry; Q Saleem; M V Padma; M C Maheshwari; S Jain
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta neurologica Scandinavica     Volume:  102     ISSN:  0001-6314     ISO Abbreviation:  Acta Neurol. Scand.     Publication Date:  2000 Oct 
Date Detail:
Created Date:  2001-03-06     Completed Date:  2001-05-31     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0370336     Medline TA:  Acta Neurol Scand     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  227-9     Citation Subset:  IM    
Affiliation:
Functional Genomics Unit, Centre for Biochemical Technology, Delhi, India.
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MeSH Terms
Descriptor/Qualifier:
Adult
Alleles
DNA Primers / genetics
Friedreich Ataxia / epidemiology,  genetics*
Gene Expression / genetics
Humans
India / epidemiology
Male
Prevalence
Trinucleotide Repeats / genetics
Chemical
Reg. No./Substance:
0/DNA Primers

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