title: Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India.
abstract: 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.affiliation: Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, India.
authors.forename: S
authors.initials: S
authors.lastname: Pramanik
authors.forename: P
authors.initials: P
authors.lastname: Basu
authors.forename: P K
authors.initials: PK
authors.lastname: Gangopadhaya
authors.forename: K K
authors.initials: KK
authors.lastname: Sinha
authors.forename: D K
authors.initials: DK
authors.lastname: Jha
authors.forename: S
authors.initials: S
authors.lastname: Sinha
authors.forename: S K
authors.initials: SK
authors.lastname: Das
authors.forename: B K
authors.initials: BK
authors.lastname: Maity
authors.forename: S C
authors.initials: SC
authors.lastname: Mukherjee
authors.forename: S
authors.initials: S
authors.lastname: Roychoudhuri
authors.forename: P P
authors.initials: PP
authors.lastname: Majumder
authors.forename: N P
authors.initials: NP
authors.lastname: Bhattacharyya
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D005006:Ethnicity / Q000235:genetics / Q000706:statistics & numerical data; D005260:Female; D006239:Haplotypes; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000097:blood / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D007194:India / Q000453:epidemiology / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000097:blood / Q000235:genetics*; D009687:Nuclear Proteins / Q000097:blood / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D017422:Sequence Analysis, DNA; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins