Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients
Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients
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DOI：
10.1002/humu.1380010603
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发表时间：
1992-01-01
期刊：
影响因子：
3.9
通讯作者：
Nakamura, Yusuke
中科院分区：
文献类型：
--
作者：
Nagase, Hiroki;Miyoshi, Yasuo;Nakamura, Yusuke
我们在这里报告的61例新的家族性腺瘤性息肉病（FAP）患者的大肠腺瘤性息肉病（APC）基因的生殖系突变的筛查结果，以及150例患者的结果总结。基于核糖核酸酶保护试验结合聚合酶链反应（PCR），对APC基因的整个编码区进行检查，发现在150例无关FAP患者中有97例发生了被认为是导致APC产物显著缺陷的突变。我们的研究结果揭示了APC的生殖系突变的以下特点：1）绝大多数突变被发现截短APC产物，2）几乎所有的突变都位于编码区的前半部分，3）生殖系突变的位置与FAP患者的结肠外表现之间没有观察到相关性;（4）APC基因中80%以上的碱基替换是由胞嘧啶到其他核苷酸的替换，其中近1/3发生在CpG位点。我们的研究结果提供了信息有助于了解APC基因，也将有助于FAP家族成员的症状前诊断。
We report here the result of a screening for germ-line mutations in the adenomatous polyposis coli (APC) gene in 61 new familial adenomatous polyposis (FAP) patients as well as a summary of the results of 150 patients. Examination of the entire coding region of the APC gene, based on a ribonuclease protection assay coupled with the polymerase chain reaction (PCR), disclosed mutations that were considered to cause significant defects in the APC product in 97 of 150 unrelated FAP patients. Our findings revealed the following characteristics of the germ-line mutations of APC: 1) the great majority of the mutations were found to truncate the APC product; 2) almost all of the mutations were located within the first half of the coding region; 3) no correlation was observed between the locations of germ-line mutations and extracolonic manifestations in FAP patients; 4) more than 80% of base substitutions in the APC gene were from cytosine to other nucleotides, nearly one-third of which occurred at the CpG site. Our results provide information helpful to an understanding of the APC gene and will also contribute to presymptomatic diagnosis of members in FAP families.