GourieDevi, M and Chaudhuri, JR and Vasanth, A and Saleem, Q and Mutsuddi, M and Gopinath, M and Sarkar, PS and Brahmachari, SK (1998) Correlation of clinical profile of myotonic dystrophy with CTG repeats in the myotonin protein kinase gene. In: Indian Journal of Medical Research, 107 . pp. 187-196.
Full text not available from this repository. (Request a copy)Abstract
The molecular genetic analyses (PCR and Southern hybridization) of Indian patients with myotonic dystrophy (DM) were carried out to determine the degree of repeat expansion and an attempt was made to correlate the repeat number with disease severity. A scoring system based on the salient clinical features was devised to objectively assess the disease severity. The repeat expansion was seen in 11 of 12 patients examined and showed an inverse correlation with the age of onset confirming the phenomenon of anticipation. This was further established in the two pedigrees studied, dearly demonstrating both clinical and genetic anticipation. The clinical severity score,, however, did not correlate well with the repeat number. Nonetheless, such molecular genetic analyses may have immense value as a screening procedure to identify premutations as well as in prenatal diagnoses.
| Item Type: | Journal Article |
|---|---|
| Publication: | Indian Journal of Medical Research |
| Publisher: | Indian Council of Medical Research |
| Additional Information: | Copyright of this article belongs to Indian Council of Medical Research |
| Keywords: | CTG repeat expansion;myotonia;myotonic dystrophy;PCR; Southern hybridization. |
| Department/Centre: | Division of Biological Sciences > Molecular Biophysics Unit |
| Date Deposited: | 18 May 2009 05:12 |
| Last Modified: | 18 May 2009 05:12 |
| URI: | http://eprints.iisc.ac.in/id/eprint/18326 |
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