109例先天性甲状腺功能减低症患儿甲状腺过氧化物酶基因突变检测  

Mutation detection of thyroid peroxidase gene in 109 Chinese patients with congenital hypothyroidism

作　　者：李海飞[1] 董国庆[1] 苏月月 柯宇星[1] 郑洁丽[1] 李素丽[1] LI Hai-fei;DONG Guo-qing;SU Yue-yue;KE Yu-xing;ZHENG Jie-li;LI Su-li(Shenzhen Maternal and Children Health Care Hospital,Shenzhen,Guangdong,518048,P.RChina)

机构地区：[1]深圳市妇幼保健院儿保科,深圳518048

出　　处：《中国优生与遗传杂志》2018年第9期15-16,18,共3页Chinese Journal of Birth Health & Heredity

基　　金：深圳市科技计划项目(编号JCYJ20150402090413027)

摘　　要：目的对109例先天性甲状腺功能减低症患儿进行甲状腺过氧化物酶基因(TPO)基因突变研究。方法对109例先天性甲状腺功能减低症患儿采样并提取DNA,用wafergen验证检测患儿TPO基因突变。PCR扩增患儿TPO基因各外显子、外显子-内含子交界区以及3′端和5′端非翻译区,以DNA测序技术检测TPO基因突变。结果 7例CH患儿存在7种TPO基因突变,分别为c.1082G>T[p.Arg361Leu]、c.1117G>T[p.Ala373Ser]、c.2012G>T[p.Trp671Leu]、c.2268ins T[p.Glu757fs]、c.1471C>T[p.Arg491Cys]、c.2173A>C[p.Thr725Pro]、c.2647C>T[p.Pro883Ser]。结论中国人群先天性甲状腺功能减低症患儿存在较高频率的甲状腺过氧化物酶基因突变。Objective：To identify thyroid peroxidase（TPO）gene mutations in 109 Chinese patients with congenital hypothyroidism. Methods：Genomic DNA was isolated from peripheral blood samples of 109 Chinese patients.thyroid peroxidase（TPO）gene mutations were detected by wafergen technique. All of the exons and flanking introns of TPO gene were amplified by PCR,then the PCR products were sequenced bi-directionally.Results：There were seven TPO gene mutations in seven patients,which including c.1082 G〉T [p.Arg361 Leu],c.1117 G〉T [p.Ala373 Ser],c.2012 G〉T [p.Trp671 Leu],c.2268 ins T [p.Glu757 fs],c.1471 C〉T [p.Arg491 Cys],c.2173 A〉C [p.Thr725 Pro] and c.2647 C〉T [p.Pro883 Ser]. Conclusions：High frequency mutation in TPO gene was detected in Chinese congenital hypothyroidism patients.

关 键 词：先天性甲状腺功能减低症 TPO基因 基因突变 

分 类 号：R581.2[医药卫生—内分泌]