中国人家族性腺瘤性息肉病患者的 APC 基因突变。
APC gene mutations in Chinese familial adenomatous polyposis patients.
机构信息
Department of Gastroenterology, General Hospital of Beijing Military Region, Beijing 100700, China.
出版信息
World J Gastroenterol. 2010 Mar 28;16(12):1522-6. doi: 10.3748/wjg.v16.i12.1522.
Abstract
AIM
To study the characteristics of APC (adenomatous polyposis coli) gene germline mutation in Chinese patients with familial adenomatous polyposis (FAP).
METHODS
APC gene from 14 FAP families was amplified by polymerase chain reaction (PCR) and underwent direct sequencing to determine the micromutation type. For the samples without micromutation, the large fragment deletion of APC gene was examined by multiplex ligation-dependent probe amplification (MLPA).
RESULTS
There were gene micromutations in 9 families with a micromutation detection rate of 64.3% (9/14), including 6 frameshift mutations (66.7%), 1 nonsense mutation (11.1%) and 2 splicing mutations (22.2%). Large fragment deletions were detected by MLPA in 2 families. The total mutation detection rate of micromutations and large fragment deletions was 78.6% (11/14).
CONCLUSION
The detection rate of APC gene germline mutation can be improved by direct sequencing combined with MLPA large fragment deletion detection.
摘要
目的
研究中国家族性腺瘤性息肉病（FAP）患者 APC（腺瘤性结肠息肉病）基因突变的特点。
方法
采用聚合酶链反应（PCR）扩增 14 个 FAP 家系的 APC 基因，并进行直接测序以确定微突变类型。对于无微突变的样本，采用多重连接依赖性探针扩增（MLPA）检测 APC 基因大片段缺失。
结果
9 个家系存在基因微突变，微突变检测率为 64.3%（9/14），包括 6 个移码突变（66.7%）、1 个无义突变（11.1%）和 2 个剪接突变（22.2%）。2 个家系通过 MLPA 检测到大片段缺失。微突变和大片段缺失的总突变检测率为 78.6%（11/14）。
结论
直接测序结合 MLPA 大片段缺失检测可提高 APC 基因突变的检测率。
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