Thyroid hormone resistance with H435Y mutation in thyroid hormone receptor β: a pedigree analysis / 中华内分泌代谢杂志

ABSTRACT

[Summary] 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.