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Screening South African familial adenomatous polyposis families for the five-nucleotide deletion at codon 1309 of the APC gene.

Abstract：

:We report the occurrence of a common five-nucleotide deletion at codon 1309 of the adenomatous polyposis coli (APC) gene in four different South African population groups. The mutation causes familial adenomatous polyposis (FAP) in 18% (4/22 unrelated patients screened) of affected South Africans, which is similar to the frequency described in several other populations. Knowledge of the gene mutation underlying FAP enabled conclusive genetic testing of at-risk family members of four index patients in which this specific mutation has been characterized. The non-radioactive heteroduplex method described in this study allowed cost-effective molecular diagnosis directly after electrophoresis of enzymatically-amplified DNA in agarose gels. The resulting reduction of uncertainty for at-risk relatives is an important benefit of diagnosis at the DNA level.

journal_name

Mol Cell Probes

journal_title

Molecular and cellular probes

authors

Grobbelaar JJ,Oosthuizen CJ,Kotze MJ

doi

10.1016/s0890-8508(95)91007-7

subject

Has Abstract

pub_date

1995-02-01 00:00:00

pages

49-51

issue

1

eissn

0890-8508

issn

1096-1194

journal_volume

9

pub_type

杂志文章

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