Analysis of cag and ccg repeats in huntingtin gene among hd patients and normal populations of india

Analysis of cag and ccg repeats in huntingtin gene among hd patients and normal populations of india

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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. SIMILAR CONTENT BEING VIEWED BY OTHERS FREQUENCY OF THE LOSS OF CAA INTERRUPTION IN THE _HTT_ CAG TRACT AND IMPLICATIONS FOR HUNTINGTON DISEASE IN THE REDUCED PENETRANCE RANGE Article Open access 03 August 2020 HIGH FREQUENCY OF INTERMEDIARY ALLELES IN THE _HTT_ GENE IN NORTHERN SWEDEN - THE SWEDISH HUNTINGTIN ALLELES AND PHENOTYPE (SHAPE) STUDY Article Open access 17 June 2020 TRACING THE MUTATED _HTT_ AND HAPLOTYPE OF THE AFRICAN ANCESTOR WHO SPREAD HUNTINGTON DISEASE INTO THE MIDDLE EAST Article 14 July 2020 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, Srimanta Pramanik, Priyadarshi Basu & Nitai P Bhattacharyya * Bangur Institute of Neurology, Calcutta Prasanta K Gangopadhaya, Shyamal K Das & Bibek K Maity * Advanced Diagnostic Centre, Ranchi Krishna K Sinha, D K Jha & S Sinha * Calcutta Medical College, Subhas C Mukherjee * Indian Institute of Chemical Biology, Sushanta Roychoudhuri * Indian Statistical Institute, Calcutta, India Partha P Majumder Authors * Srimanta Pramanik View author publications You can also search for this author inPubMed Google Scholar * Priyadarshi Basu View author publications You can also search for this author inPubMed Google Scholar * Prasanta K Gangopadhaya View author publications You can also search for this author inPubMed Google Scholar * Krishna K Sinha View author publications You can also search for this author inPubMed Google Scholar * D K Jha View author publications You can also search for this author inPubMed Google Scholar * S Sinha View author publications You can also search for this author inPubMed Google Scholar * Shyamal K Das View author publications You can also search for this author inPubMed Google Scholar * Bibek K Maity View author publications You can also search for this author inPubMed Google Scholar * Subhas C Mukherjee View author publications You can also search for this author inPubMed Google Scholar * Sushanta Roychoudhuri View author publications You can also search for this author inPubMed Google Scholar * Partha P Majumder View author publications You can also search for this author inPubMed Google Scholar * Nitai P Bhattacharyya View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Nitai P Bhattacharyya. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Pramanik, S., Basu, P., Gangopadhaya, P. _et al._ Analysis of CAG and CCG repeats in _HUNTINGTIN_ gene among HD patients and normal populations of India. _Eur J Hum Genet_ 8, 678–682 (2000). https://doi.org/10.1038/sj.ejhg.5200515 Download citation * Received: 24 December 1999 * Revised: 13 April 2000 * Accepted: 27 April 2000 * Published: 31 August 2000 * Issue Date: 01 September 2000 * DOI: https://doi.org/10.1038/sj.ejhg.5200515 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * Huntington's disease * Indian populations * haplotype

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. SIMILAR CONTENT BEING VIEWED BY OTHERS FREQUENCY OF THE LOSS OF CAA INTERRUPTION IN THE _HTT_ CAG TRACT AND IMPLICATIONS FOR HUNTINGTON DISEASE IN THE REDUCED PENETRANCE


RANGE Article Open access 03 August 2020 HIGH FREQUENCY OF INTERMEDIARY ALLELES IN THE _HTT_ GENE IN NORTHERN SWEDEN - THE SWEDISH HUNTINGTIN ALLELES AND PHENOTYPE (SHAPE) STUDY Article Open


access 17 June 2020 TRACING THE MUTATED _HTT_ AND HAPLOTYPE OF THE AFRICAN ANCESTOR WHO SPREAD HUNTINGTON DISEASE INTO THE MIDDLE EAST Article 14 July 2020 ARTICLE PDF AUTHOR INFORMATION


AUTHORS AND AFFILIATIONS * Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, Srimanta Pramanik, Priyadarshi Basu & Nitai P Bhattacharyya * Bangur


Institute of Neurology, Calcutta Prasanta K Gangopadhaya, Shyamal K Das & Bibek K Maity * Advanced Diagnostic Centre, Ranchi Krishna K Sinha, D K Jha & S Sinha * Calcutta Medical


College, Subhas C Mukherjee * Indian Institute of Chemical Biology, Sushanta Roychoudhuri * Indian Statistical Institute, Calcutta, India Partha P Majumder Authors * Srimanta Pramanik View


author publications You can also search for this author inPubMed Google Scholar * Priyadarshi Basu View author publications You can also search for this author inPubMed Google Scholar *


Prasanta K Gangopadhaya View author publications You can also search for this author inPubMed Google Scholar * Krishna K Sinha View author publications You can also search for this author


inPubMed Google Scholar * D K Jha View author publications You can also search for this author inPubMed Google Scholar * S Sinha View author publications You can also search for this author


inPubMed Google Scholar * Shyamal K Das View author publications You can also search for this author inPubMed Google Scholar * Bibek K Maity View author publications You can also search for


this author inPubMed Google Scholar * Subhas C Mukherjee View author publications You can also search for this author inPubMed Google Scholar * Sushanta Roychoudhuri View author publications


You can also search for this author inPubMed Google Scholar * Partha P Majumder View author publications You can also search for this author inPubMed Google Scholar * Nitai P Bhattacharyya


View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Nitai P Bhattacharyya. RIGHTS AND PERMISSIONS Reprints and


permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Pramanik, S., Basu, P., Gangopadhaya, P. _et al._ Analysis of CAG and CCG repeats in _HUNTINGTIN_ gene among HD patients and normal


populations of India. _Eur J Hum Genet_ 8, 678–682 (2000). https://doi.org/10.1038/sj.ejhg.5200515 Download citation * Received: 24 December 1999 * Revised: 13 April 2000 * Accepted: 27


April 2000 * Published: 31 August 2000 * Issue Date: 01 September 2000 * DOI: https://doi.org/10.1038/sj.ejhg.5200515 SHARE THIS ARTICLE Anyone you share the following link with will be able


to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing


initiative KEYWORDS * Huntington's disease * Indian populations * haplotype