A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli.
A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli.
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DOI：
10.18632/oncotarget.4776
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发表时间：
2015-09-29
期刊：
影响因子：
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通讯作者：
Xia JC
中科院分区：
文献类型：
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作者：
Jiang SS;Li JJ;Li Y;He LJ;Wang QJ;Weng DS;Pan K;Liu Q;Zhao JJ;Pan QZ;Zhang XF;Tang Y;Chen CL;Zhang HX;Xu GL;Zeng YX;Xia JC
家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传病，表现为中年患者的结直肠癌。腺瘤性大肠息肉病（APC）基因突变可导致FAP和散发性或家族性结直肠癌的发生。在这里，我们描述了在一个中国家系中与FAP相关的APC基因缺陷的鉴定。所有FAP患者均通过临床特征、家族史、结肠镜检查和病理检查进行诊断。采集血样，提取基因组DNA。采用靶向下一代测序、远程PCR和Sanger测序对APC进行突变分析。外显子14-15 (c。在所有FAP患者中均发现APC基因的内含子14 （1936-2148 del）和内含子14，而在未受影响的家庭成员中则不存在。这种在中国亲属中引起FAP的新缺失扩大了APC基因在中国人群中的种系突变谱。
Familial adenomatous polyposis (FAP) is an autosomal dominant disease manifesting as colorectal cancer in middle-aged patients. Mutations of the adenomatous polyposis coli (APC) gene contribute to both FAP and sporadic or familial colorectal carcinogenesis. Here we describe the identification of the causative APC gene defects associated with FAP in a Chinese pedigree. All patients with FAP were diagnosed by their combination of clinical features, family history, colonoscopy, and pathology examinations. Blood samples were collected and genomic DNA was extracted. Mutation analysis of APC was conducted by targeted next-generation sequencing, long-range PCR and Sanger sequencing. A novel mutation in exon 14–15(c.1936-2148 del) and intron 14 of the APC gene was demonstrated in all FAP patients and was absent in unaffected family members. This novel deletion causing FAP in Chinese kindred expands the germline mutation spectrum of the APC gene in the Chinese population.