Journal article
Predictive testing for familial adenomatous polyposis in a rural South Indian community
Clinical Genetics, Vol.58(1), pp.57-60
2001
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.
Details
- Title
- Predictive testing for familial adenomatous polyposis in a rural South Indian community
- Authors/Creators
- H.S. Savithri (Author/Creator) - Indian Institute of Science BangaloreH. Venkatesha Murthy (Author/Creator)G. Baskaran (Author/Creator) - Indian Institute of Science BangaloreN.A. Rao (Author/Creator) - Indian Institute of Science BangaloreD. Kool (Author/Creator) - Services AustraliaE. Edkins (Author/Creator) - Princess Margaret HospitalW. Wang (Author/Creator) - Edith Cowan UniversityA.H. Bittles (Author/Creator) - Edith Cowan University
- Publication Details
- Clinical Genetics, Vol.58(1), pp.57-60
- Publisher
- Wiley-Blackwell
- Identifiers
- 991005542373907891
- Copyright
- 2000 Munksgaard
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.111 Liver & Colon Cancer
- 1.111.1044 Microsatellite Instability
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Clinical Medicine