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目的探讨汉族儿童促甲状腺素受体(TSHR)基因失活突变与先天性甲状腺功能减低症(cH)的相关性。方法(1)选择79例 CH 汉族儿童(亚临床甲减14例,年龄1～5.5岁,男8例,女6例;甲减65例,年龄1.5～6岁,男27例,女38例)为研究对象;100名正常儿童(男40例,女60例,年龄1～8岁)作为对照组。(2)采用 PCR 和 DNA 测序技术检测 TSHR 基因失活突变。结果(1)79例 CH 患儿中有1例发生复合杂合子突变,其突变位点为(Pro52Thr/Val689Gly)。1例发生杂合子突变,其突变位点为(Gly245Ser)。30例患儿在第10外显子2181位核苷酸处发生 C-G 转换(GAC-GAG),使727位密码子天冬氨酸被谷氨酸代替(Asp727Glu)。47例患儿在第7外显子561位核苷酸处发生 T-C 转换(AAT→AAC),相应的187位氨基酸(Asn)不发生改变。(2)33例正常对照儿童在第10外显子2181位核苷酸处发生 C-G 转换;50例正常对照儿童在第7外显子561位核苷酸处发生 T-C 转换(AAT→AAC)。结论浙江汉族 CH 患儿 TSHR 基因有3个杂合子突变位点:(Pro52Thr)、(Gly245Ser)、(Val689Gly),第10外显子2181位核苷酸处(GAC→GAG)及第7外显子561位核苷酸处(AAT→AAC)存在 TSHR 基因多态性。
Objective To investigate the relationship between thyroid hormone receptor (TSHR) gene inactivation and congenital hypothyroidism (cH) in Han children. Methods A total of 79 CH Han children (subclinical hypothyroidism in 14 cases, aged 1 to 5.5 years, 8 males and 6 females; 65 hypothyroidism patients, aged 1.5 to 6 years, 27 males and 38 females ) For the study; 100 normal children (40 males and 60 females, aged 1 to 8 years old) as a control group. (2) Detection of inactivation mutations of TSHR gene by PCR and DNA sequencing. Results (1) A composite heterozygous mutation occurred in one of 79 CH children, with a mutation site of (Pro52Thr / Val689Gly). One case had a heterozygous mutation with a mutation site of (Gly245Ser). Thirty children underwent C-G conversion (GAC-GAG) at nucleotide 2181 of exon 10, replacing codon 727 with glutamic acid (Asp727Glu). T-C conversion (AAT → AAC) occurred in 47 cases with the 561th nucleotide of exon 7, while the corresponding amino acid 187 (Asn) did not change. (2) 33 cases of normal children at the exon 10 C-G converter 2181 nucleotides occurs; T-C conversion (AAT → AAC) normal children exons 7 outside the 561 nucleotide 50 cases occurred. Conclusion children in Han CH 3 TSHR gene heterozygous mutation sites: (Pro52Thr), (Gly245Ser), (Val689Gly), in exon 10 at nucleotide 2181 (GAC → GAG) and second exon 7 There is TSHR gene polymorphism at nucleotide 561 (AAT → AAC).