【摘要】 目的:研究天津地区先天性甲状腺功能减退症(先天性甲减)患者的TSH受体(thyrotropinreceptor,TSHR)基因突变情况。方法:用TKM法提取18例先天性甲减、35例正常对照者外周血DNA,用PCR-SSCP技术分析TSHR基因第1、4、6、10外显子,突变经正反向测序证实。结果:发现1例先天性甲减患儿在TSHR基因第10外显子具有2个位点纯合子突变:450位密码子由CGC置换为CAC,Arg450→His(R450H);727位密码子由GAC置换为GAG,Asp727→Glu(D727E)。结论:D727E为TSHR基因多态性,失活性突变纯合子R450H导致该患儿先天性甲减。更多还原

【Abstract】 Objective: To investigate the mutations of thyrotropin receptor(TSHR; gene in the patients with congenital hypothyroidism (CH; in Tianjin area. Methods: Total genomic DNA was extracted from peripheral blood of 18 patients with CH and 35 normal subjects. Exons 1,4,6,and 10 of TSHR gene were individually amplified.Mutations were detected by single-strand conformational polymorphism(SSCP;and confirmed with direct sequencing. Results: Two homozygous mutations codon450 CGC→CAC(Arg→His,R450H;and codon 727 GAC→GAG (Asp→Glu,D727E; were found in one case. Conclusion: The codon D727E was TSHR gene polymorphism.Homozygous inactivating mutation R450H led to CH.更多还原