先天性甲状腺功能减低症患儿DUOX2基因突变检测  

DUOX2 gene mutation detection in children with congenital hypothyroidism

作　　者：李海飞[1] 柯宇星[1] 郑洁丽[1] 刘一心[1] 刘洋[1] 李素丽[1] 

机构地区：[1]深圳市妇幼保健院,广东深圳518048

出　　处：《中国妇幼保健》2017年第22期5671-5673,共3页Maternal and Child Health Care of China

基　　金：深圳市科技计划项目(JCYJ20150402090413027)

摘　　要：目的检测20例先天性甲状腺功能减低症(CH)患儿二元氧化酶2(DUOX2)基因突变。方法抽取20例CH患儿外周血并提取DNA,用wafergen验证技术检测先证者甲状腺过氧化物酶(TPO)基因、二元氧化酶2(DUOX2)基因和二元氧化酶成熟因子2(DUOXA2)基因。PCR扩增先证者DUOX2基因突变所在的外显子区域,以DNA测序技术检测DUOX2基因突变,并对发现突变的部分CH患儿父母进行对照分析。结果 7例CH患儿存在6种DUOX2基因突变,分别为c.1588A>T[p.Lys530X]、c.2033A>G[p.His678Arg]、c.4027C>T[p.Leu1343Phe]、c.2048G>T[p.Arg683Leu]、c.3200C>T[p.Ser1067Leu]、c.1708C>T[p.Gln570X],其中c.1708C>T[p.Gln570X]为1种新突变。结论中国人群CH患儿存在较高频率的DUOX2基因突变。Objective To detect dual oxidase 2（DUOX2） gene mutation in 20 children with congenital hypothyroidism（CH）.Methods Genomic DNA was isolated from peripheral blood samples of 20 children with CH.wafergen technique was used to detect thyroid peroxidase（TPO） gene,DUOX2 gene,and dual oxidase A2（DUOXA2） of propositi.PCR was used to amplify exon region of DUOX2 gene mutation in propositi.DNA sequencing was used to detect DUOX2 gene mutation,a case-control analysis was conducted among the parents of some CH children with mutations.Results There were six DUOX2 gene mutations in seven CH patients,which were c.1588 AT [p.Lys530 X ],c.2033 A G [p.His678 Arg ],c.4027 C T [p.Leu1343 Phe ],c.2048 G T [p.Arg683 Leu ],c.3200 C T[p.Ser1067 Leu],c.1708 CT [p.Gln570 X];c.1708 C T was a novel mutation.Conclusion High frequency mutation in DUOX2 gene is detected in Chinese CH children.

关 键 词：先天性甲状腺功能减低症 甲状腺 二元氧化酶2 基因 突变 

分 类 号：R725.8[医药卫生—儿科]