Document Detail

Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India.
MedLine Citation:
PMID:  10942107     Owner:  NLM     Status:  MEDLINE    
To identify various subtypes of spinocerebellar ataxias (SCAs) among 57 unrelated individuals clinically diagnosed as ataxia patients we analysed the SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci for expansion of CAG repeats. We detected CAG repeat expansion in 6 patients (10.5%) at the SCA1 locus. Ten of the 57 patients (17.5%) had CAG repeat expansion at the SCA2 locus, while four had CAG expansion at the SCA3/MJD locus (7%). At the SCA6 locus there was a single patient (1.8%) with 21 CAG repeats. We have not detected any patient with expansion in the SCA7 and DRPLA loci. To test whether the frequencies of the large normal alleles in SCA1, SCA2 and SCA6 loci can reflect some light on prevalence of the subtypes of SCAs we studied the CAG repeat variation in these loci in nine ethnic sub-populations of eastern India from which the patients originated. We report here that the frequency of large normal alleles (>31 CAG repeats) in SCA1 locus to be 0.211 of 394 chromosomes studied. We also report that the frequency of large normal alleles (>22 CAG repeats) at the SCA2 locus is 0.038 while at the SCA6 locus frequency of large normal alleles (>13 repeats) is 0.032. We discussed our data in light of the distribution of normal alleles and prevalence of SCAs in the Japanese and white populations.
P Basu; B Chattopadhyay; P K Gangopadhaya; S C Mukherjee; K K Sinha; S K Das; S Roychoudhury; P P Majumder; N P Bhattacharyya
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  106     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2000 Jun 
Date Detail:
Created Date:  2000-08-21     Completed Date:  2000-08-21     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  597-604     Citation Subset:  IM    
Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, Bidhan Nagar, Calcutta, India.
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MeSH Terms
Calcium Channels / genetics
Ethnic Groups / genetics
European Continental Ancestry Group / genetics*
Gene Frequency
Genetic Testing
Heterozygote Detection
India / ethnology
Middle Aged
Nerve Tissue Proteins / genetics*
Nuclear Proteins / genetics
Proteins / genetics
Repressor Proteins
Spinocerebellar Ataxias / diagnosis,  ethnology*,  genetics*
Trinucleotide Repeat Expansion / genetics
Trinucleotide Repeats / genetics*
Reg. No./Substance:
0/CACNA1A protein, human; 0/Calcium Channels; 0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Proteins; 0/Repressor Proteins; 0/SCA2 protein; 0/ataxin-1; 0/ataxin-7; 0/atrophin-1; EC 3.4.22.-/ATXN3 protein, human

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