Saleem, Quasar and Choudhry, Shweta and Mukerji, Mitali and Bashyam, Leena and Padma, Madakasira V and Chakravarthy, Ambar and Maheshwari, Mool Chand and Jain, Satish and Brahmachari, Samir K (2000) Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. In: Human Genetics, 106 (2). pp. 179-187.
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Abstract
Expansion of CTG/CAG trinucleotide repeats has been shown to cause a number of autosomal dominant cerebellar ataxias (ADCA) such as SCA1, SCA2, SCA3/ MJD, SCA6, SCA7, SCA8 and DRPLA. There is a wide variation in the clinical phenotype and prevalence of these ataxias in different populations. An analysis of ataxias in 42 Indian families indicates that SCA2 is the most frequent amongst all the ADCAs we have studied. In the SCA2 families, together with an intergenerational increase in repeat size, a horizontal increase with the birth order of the offspring was also observed, indicating an important role for parental age in repeat instability. This was strengthened by the detection of a pair of dizygotic twins with expanded alleles showing the same repeat number. Haplotype analysis indicates the presence of a common founder chromosome for the expanded allele in the Indian population. Polymorphism of CAG repeats in 135 normal individuals at the SCA loci studied showed similarity to the Caucasian population but was significantly different from the Japanese population.
| Item Type: | Journal Article |
|---|---|
| Publication: | Human Genetics |
| Publisher: | Springer Verlag |
| Additional Information: | Copyright for this article belongs to Springer Verlag. |
| Department/Centre: | Division of Biological Sciences > Molecular Biophysics Unit |
| Date Deposited: | 12 Oct 2004 |
| Last Modified: | 19 Sep 2010 04:15 |
| URI: | http://eprints.iisc.ac.in/id/eprint/1727 |
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