家族性腺瘤息肉病家系的APC基因突变筛查  

Mutation analysis of APC gene in patients with familial adenomatous polyposis

作　　者：林锐[1] 孔祥东[2] 李晓丽[3] LIN Rui;KONG Xiangdong;LI Xiaoli(Department of Gastroenterology,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052;Center of Genetic and Prenatal Diagnosis,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052;Department of Geriatrics,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)

机构地区：[1]郑州大学第一附属医院消化内科,郑州450052 [2]郑州大学第一附属医院遗传与产前诊断中心,郑州450052 [3]郑州大学第一附属医院老年病科,郑州450052

出　　处：《郑州大学学报（医学版）》2021年第3期389-393,共5页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省高等学校重点科研项目(14B320021)。

摘　　要：目的:对4个家族性腺瘤息肉病(FAP)家系进行腺瘤性结肠息肉(APC)基因突变筛查。方法:回顾性分析2017年4月至2019年11月就诊于郑州大学第一附属医院遗传与产前诊断中心的4个FAP家系的临床资料。应用高通量测序技术对先证者进行FAP基因突变检测,并行Sanger测序验证。结果:4例先证者均携带APC基因杂合变异,分别为c.4348C>T(p.Arg1450Ter)、c.3629_3630delAT(p.Met1211Valfs*5)、c.4384_4385delAA(p.Lys1462Glufs*6)、c.3594_3595delAA(p.Lys1199Glufs*8),均判定为致病性变异。其中c.3629_3630delAT(p.Met1211Valfs*5)和c.3594_3595delAA(p.Lys1199Glufs*8)为首次发现的APC基因突变。结论:本研究拓展了FAP的APC基因变异谱,高通量测序及Sanger测序技术结合可以高效准确地对FAP患者进行基因诊断。Aim:To detect APC gene mutation in four pedigrees with familial adenomatous polyposis(FAP)from,and explore the possible mechanism of molecular genetics.Methods:All the patients with FAP were identified at the Center of Genetic and Prenatal Diagnosis of the First Affiliated Hospital of Zhengzhou University from April 2017 to November 2019.Clinical date and peripheral blood were collected from the patients.The genes associated with FAP were tested by next generation sequencing,and suspected mutations were verified by Sanger sequencing.Results:All the patients carried heterozygous mutations in APC,they were c.4348C>T(p.Arg1450Ter),c.3629_3630delAT(p.Met1211Valfs*5),c.4384_4385delAA(p.Lys1462Glufs*6),c.3594_3595delAA(p.Lys1199Glufs*8),and all of them were pathogenic mutations.The mutations of c.3629_3630delAT(p.Met1211Valfs*5)and c.3594_3595delAA(p.Lys1199Glufs*8)were novel mutation.Conclusion:This study expanded the mutation spectrum of APC gene,and application of next generation sequencing technologies combining Sanger sequencing make gene diagnosis of FAP efficient and accurate.

关 键 词：家族性腺瘤息肉病 APC基因 高通量测序 突变 

分 类 号：R575[医药卫生—消化系统]