Grobbelaar J J, Oosthuizen C J, Kotze M J
Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
Mol Cell Probes. 1995 Feb;9(1):49-51. doi: 10.1016/s0890-8508(95)91007-7.
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.
我们报告了在四个不同的南非人群组中，腺瘤性结肠息肉病（APC）基因第1309密码子处出现常见的五核苷酸缺失。该突变在18%（筛查的22名无亲缘关系患者中的4名）受影响的南非人中导致家族性腺瘤性息肉病（FAP），这与其他几个群体中描述的频率相似。对FAP潜在基因突变的了解使得对四名索引患者的高危家庭成员进行了确凿的基因检测，其中该特定突变已得到表征。本研究中描述的非放射性异源双链方法允许在琼脂糖凝胶中对酶扩增的DNA进行电泳后直接进行经济高效的分子诊断。对高危亲属不确定性的降低是DNA水平诊断的一个重要益处。
