title: Predictive testing for familial adenomatous polyposis in a rural South Indian community.
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.
authors.affiliation: Department of Biochemistry, Indian Institute of Science, Bangalore.
authors.forename: H S
authors.initials: HS
authors.lastname: Savithri
authors.forename: H S
authors.initials: HS
authors.lastname: Venkatesha Murthy
authors.forename: G
authors.initials: G
authors.lastname: Baskaran
authors.forename: N
authors.initials: N
authors.lastname: Appaji Rao
authors.forename: D
authors.initials: D
authors.lastname: Kool
authors.forename: E
authors.initials: E
authors.lastname: Edkins
authors.forename: W
authors.initials: W
authors.lastname: Wang
authors.forename: A H
authors.initials: AH
authors.lastname: Bittles
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D017491:Genes, APC; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D010375:Pedigree; D012424:Rural Population
chemical_list: D004247:DNA