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首页> 美国卫生研究院文献>World Journal of Gastroenterology >Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds
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Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds

机译：中国遗传性非息肉性大肠癌家族中hMSH2和hMLH1突变的检测

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AIM: To establish and validate the mutation testing for identification and characterization of hereditary non-polyposis colorectal cancer (HNPCC) in suspected Chinese patients.METHODS: Five independent Chinese kindreds with HNPCC fulfilling the classical Amsterdam criteria were collected. Genomic DNA was extracted after informed consent was obtained. The coding region of hMSH2 and hMLH1 genes was detected by polymerase chain reaction (PCR) and denaturing high-performance liquid chromatography (DHPLC). Mutations identified in the proband by DHPLC were directly sequenced using a 377 DNA sequencer, analyzed with a basic local alignment tool (BLAST), and tested in the corresponding family members by direct DNA sequencing.RESULTS: Mutations were identified in two Chinese HNPCC kindreds. One was the missense mutation of hMSH2 c.1808A→G resulting in Asp 603 Gly identified in the proband of the fifth HNPCC (HNPCC5) kindred. In the HNP5 kindred, three family members were found to have this mutation and two of them had colorectal cancer. The other mutation of hMLH1 c.1882A→G was identified in the HNP2 kindred’s proband, which might be the nonsense mutation analyzed by BLAST.CONCLUSION: Pedigree investigation and mutation testing of hMSH2 and hMLH1 are the practical methods to identify high-risk HNPCC patients in China.
机译：目的：建立可验证的可疑中国患者的遗传性非息肉性结直肠癌（HNPCC）的突变试验，以进行鉴定和表征。方法：收集5名符合经典阿姆斯特丹标准的HNPCC独立中国血统。获得知情同意后，提取基因组DNA。 hMSH2和hMLH1基因的编码区通过聚合酶链反应（PCR）和变性高效液相色谱（DHPLC）检测。通过DHPLC在先证者中鉴定出的突变直接使用377 DNA测序仪进行测序，并使用基本的局部比对工具（BLAST）进行分析，并通过直接DNA测序在相应的家族成员中进行测试。结果：在两个中国HNPCC亲属中鉴定出了突变。一种是hMSH2 c.1808A→G的错义突变，导致在第五种HNPCC（HNPCC5）的先证者中鉴定出Asp 603 Gly。在HNP5家族中，发现3个家庭成员具有此突变，其中2个患有结肠直肠癌。在HNP2的先证者中鉴定出hMLH1 c.1882A→G的其他突变，这可能是BLAST分析的无意义突变。在中国。

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