TRβ gene mutation in a family with thyroid hormone resistance syndrome

VernacularTitle:TRβ基因突变致甲状腺激素抵抗综合征
Author: Qian ZHANG ; Jun LIANG ; Lianjun DOU ; Caiyan ZOU ; Manqing YANG ; Chunming PAN ; Ming ZHAN ; Huaidong SONG
Publication Type:Journal Article
Keywords: Thyroid hormone resistance; Thyroid hormone receptor β; Mutation
From: Chinese Journal of Endocrinology and Metabolism 2012;28(6):483-486
CountryChina
Language:Chinese
Abstract: Objective To detect the gene mutation of thyroid hormone receptor β ( TRβ ) in a family with thyroid hormone resistance syndrome.Methods The genomic DNA was extracted from peripheral blood leukocytes of the patient and his 5 family members.The exons 1-10 ofTRβ gene were amplified by PCR.The products of PCR were sequenced directly to detect the gene mutation.Results Two members of this family were confirmed to have the C y A transition mutation at nucleotide 1642 site within exon 10 of TRβ gene,which was a missense mutation causing the substitution of Proline to Threonine (P453T).The mutation was Heterozygous.Conclusions It was confirmed that the patient has TRβ gene mutation P453T in exon 10.The mutation may lead to the occurrence of thyroid hormone resistance syndrome.