Analysis of CAG and CCG Repeats in Huntingtin Gene among HD Patients and Normal Populations of India
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
View Archive Info| Field | Value | |
| Title |
Analysis of CAG and CCG Repeats in Huntingtin Gene
among HD Patients and Normal Populations of India
|
|
| Creator |
Pramanik, Srimanta
Basu, Priyadarshi Gangopadhaya, Prasanta K Sinha, Krishna K Jha, DK Sinha, S Das, Shyamal K Maity, Bibek K Mukherjee, Subhas C Roychoudhury, Susanta Majumder, Partha P Bhattacharyya, Nitai P |
|
| Subject |
Molecular & Human Genetics
|
|
| Description |
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.
|
|
| Publisher |
Nature Publishing Group
|
|
| Date |
2000
|
|
| Type |
Article
PeerReviewed |
|
| Format |
application/pdf
|
|
| Identifier |
http://www.eprints.iicb.res.in/814/1/EUROPEAN_JOURNAL_OF_HUMAN_GENETICS__8(_9)_678%2D682;2000[17].pdf
Pramanik, Srimanta and Basu, Priyadarshi and Gangopadhaya, Prasanta K and Sinha, Krishna K and Jha, DK and Sinha, S and Das, Shyamal K and Maity, Bibek K and Mukherjee, Subhas C and Roychoudhury, Susanta and Majumder, Partha P and Bhattacharyya, Nitai P (2000) Analysis of CAG and CCG Repeats in Huntingtin Gene among HD Patients and Normal Populations of India. European Journal of Human Genetics, 8 (9). pp. 678-682. |
|
| Relation |
http://dx.doi.org/10.1128/AEM.66.9.4022-4028.2000
http://www.eprints.iicb.res.in/814/ |
|