Document Detail


Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India.
MedLine Citation:
PMID:  10980573     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have analysed the distribution of CAG and adjacent polymorphic CCG repeats in the Huntingtin gene in 28 clinically diagnosed unrelated Huntington's disease (HD) patients and in normal individuals belonging to different ethnic groups of India. The range of expanded CAG repeats in HD patients varied from 41 to 56 repeats, whereas in normal individuals this number varied between 11 and 31 repeats. We identified six CCG alleles from a total of 380 normal chromosomes that were pooled across different ethnic populations of India. There were two predominant alleles: (CCG)7 (72.6%) and (CCG)10 (20%). We report here for the first time one four-repeat CCG allele which has not been found in any population so far. We found 30 haplotypes (two loci CAG-CCG) for 380 normal chromosomes. In the present study, no statistically significant preponderance of expanded HD alleles was found on either (CCG)7 or (CCG)10 backgrounds. Our studies suggest that the overall prevalence of HD in Indian populations may not be as high as in Western populations. Further studies are necessary to identify the origin of HD mutation in these populations.
Authors:
S Pramanik; P Basu; P K Gangopadhaya; K K Sinha; D K Jha; S Sinha; S K Das; B K Maity; S C Mukherjee; S Roychoudhuri; P P Majumder; N P Bhattacharyya
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  8     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2000 Sep 
Date Detail:
Created Date:  2000-10-12     Completed Date:  2000-10-12     Revised Date:  2012-07-11    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  678-82     Citation Subset:  IM    
Affiliation:
Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, India.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Alleles
Ethnic Groups / genetics,  statistics & numerical data
Female
Haplotypes
Humans
Huntington Disease / blood,  epidemiology,  ethnology,  genetics*
India / epidemiology,  ethnology
Male
Middle Aged
Nerve Tissue Proteins / blood,  genetics*
Nuclear Proteins / blood,  genetics*
Polymorphism, Genetic / genetics
Sequence Analysis, DNA
Trinucleotide Repeat Expansion / genetics*
Chemical
Reg. No./Substance:
0/HTT protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Proteins

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