1例家族性腺瘤性息肉病患者的APC基因突变诊断  

Diagnosis of APC gene mutation in a patient with familiar adenomatous polyposis

作　　者：潘红[1] 高洪柳[1] 吴秋月[1] 李卫巍[1] 李天赋 夏欣一[1] 王卫萍[1] 许豪勤 

机构地区：[1]南京军区南京总医院中心实验科,江苏南京210002 [2]江苏省计划生育科研所,江苏南京210029

出　　处：《东南国防医药》2014年第6期566-568,580,共4页Military Medical Journal of Southeast China

基　　金：江苏省自然科学基金(BK2011660);江苏省科技厅省级科技专项(BM2013058);南京军区南京总医院课题立项(2013059)

摘　　要：目的对1例家族性腺瘤性息肉病患者进行结肠息肉病致病基因(adenomatous polyposis coli,APC)的突变检测。方法从患者外周血中提取基因组DNA,用目标序列捕获结合二代测序技术对APC致病基因进行测序并用Sanger测序验证。结果患者的APC经分析后发现1个杂合的缺失突变c.3931_3925del AAAAG(p.Ile1307Ilefs X6);该突变引起APC基因的编码序列移码突变,产生一个提前终止的密码子,生成一截短的蛋白而影响蛋白功能。结论 APC基因编码区的缺失突变c.3931_3925del AAAAG(p.Ile1307Ilefs X6)为该患者的致病原因。Objective To diagnose the mutation of adenomatous polyposis coli （ APC） in a patient with familiar adenomatous polyposis （ FAP） .Methods Genomic DNA was extracted from peripheral blood of the patient .Target region enrichment combined with next generation sequencing was performed for the patient .The mutation screened by target region capture sequencing was further identi -fied by Sanger sequencing .Results A heterozygous deletion mutation of c .3931_3925delAAAAG,p.Ile1307IlefsX6 in APC was iden-tified,which resulted in a frameshift within the coding sequence and brought about a premature translation termination codon .Conclu-sion The mutation of c.3931_3925delAAAAG （p.Ile1307IlefsX6） in APC gene contributed to the pathogenesis of familiar adenoma-tous polypsis .

关 键 词：家族性腺瘤性息肉病 结肠息肉病基因 缺失突变 

分 类 号：R735.3[医药卫生—肿瘤]