异源双工
家族性腺瘤性息肉病
遗传学
表型
大肠腺瘤性息肉病
突变
基因
生物
生殖系
种系突变
突变试验
分子生物学
癌症
结直肠癌
作者
Tanguy Martin-Denavit,S. Duthel,Sophie Giraud,Sylviane Olschwang,JC Saurin,H Plauchu
标识
DOI:10.1034/j.1399-0004.2001.600206.x
摘要
We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients' phenotype.
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