甲状腺激素受体β基因H435Y突变所致甲状腺激素抵抗综合征：一家系研究  

Thyroid hormone resistance with H435Y mutation in thyroid hormone receptor β： a pedigree analysis

作　　者：童艳[1] 涂梅[1] 魏雯[1] 陈阳[1] 陈彤[1] 

机构地区：[1]福建医科大学附属龙岩第一医院内分泌科,364000

出　　处：《中华内分泌代谢杂志》2015年第1期55-58,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：对一个包括先证者在内共28位成员的甲状腺激素抵抗综合征家系进行临床调查,并提取先证者及其家系14位成员（其他13位成员拒绝抽血）外周血白细胞基因组DNA,对甲状腺激素受体（thyroid hormone receptor,TR）β基因的第1～ 10外显子进行PCR扩增,PCR产物进行DNA测序检测突变位点.测序结果显示,该家系中有3名成员TRβ第10外显子1 303位核苷酸发生C转换为T的错义突变,使该位点编码的氨基酸由组氨酸变为酪氨酸（H435Y）,此突变为杂合子突变,可能导致了甲状腺激素抵抗综合征的发生.The genomic DNA was extracted from peripheral blood leukocyte of the patient with thyroid hormone resistance syndrome and 14 members of his family.The exons 1-10 of thyroid hormone receptor β （TRβ） gene were amplified by PCR.The products of PCR were sequenced directly to detect the gene mutation.The results showed that 3 members of this family were confirmed to have the C→T transition mutation at nucleotide 1 303 site within exon 10 of TRβ gene,and the missense mutation results in the substitution of histidine to tyrosine （H435Y）.The heterozygous mutation may lead to the occurrence of thyroid hormone resistance syndrome.

关 键 词：甲状腺激素抵抗 甲状腺激素受体β 基因突变 

分 类 号：R581.2[医药卫生—内分泌]