Savithri, HS and Murthy, Venkatesha Hs and Baskaran, G and Rao, Appaji N and Kool, D and Edkins, E and Wang, W and Bittles, AH (2000) Predictive testing for familial adenomatous polyposis in a rural South Indian community. In: Clinical Genetics, 58 (1). pp. 57-60.
Full text not available from this repository. (Request a copy)Abstract
During the course of genome studies in a rural community in the South Indian state of Karnataka, DNA-based investigations and counselling for familial adenomatous polyposis (FAP) were requested via the community physician. The proposita died in 1940 and FAP had been clinically diagnosed in 2 of her 5 children, both deceased. DNA samples from 2 affected individuals in the third generation were screened for mutations in the APC gene, and a frame-shift mutation was identified in exon 15 with a common deletion at codon 1061. Predictive testing for the mutation was then organized on a voluntary basis. There were 11 positive tests, including confirmatory positives on 2 persons diagnosed by colonoscopy, and to date surgery has been successfully undertaken on 3 previously undiagnosed adults. The ongoing success of the study indicates that, with appropriate access to the facilities offered by collaborating centres, predictive testing is feasible for diseases such as FAP and could be of significant benefit to communities in economically less developed countries.
| Item Type: | Journal Article |
|---|---|
| Publication: | Clinical Genetics |
| Publisher: | John Wiley & Sons |
| Additional Information: | Copyright of this article belong to John Wiley & Sons. |
| Keywords: | APC gene•familial adenomatous polyposis•Karnataka |
| Department/Centre: | Division of Biological Sciences > Biochemistry |
| Date Deposited: | 28 Jul 2010 10:56 |
| Last Modified: | 25 Feb 2019 12:22 |
| URI: | http://eprints.iisc.ac.in/id/eprint/30992 |
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