Study on TR beta gene mutation in a thyroid hormone resistance syndrome family / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect the gene mutation of thyroid hormone receptor beta (TR beta) in a family with thyroid hormone resistance syndrome.</p><p><b>METHODS</b>The genomic DNA was extracted from peripheral blood leukocytes of the patient, 14 family members and 7 healthy subjects. The exons 7-10 of TR beta gene were amplified by PCR. The products of PCR were purified and sequenced directly to detect the gene mutation.</p><p><b>RESULTS</b>Five members of this family were confirmed to have the C to G transition mutation at nucleotide 1642 site within exon 10 of TR beta gene, which was a missense mutation causing the substitution of Proline to Alanine (P453A); and also to have the C to T transition mutation at nucleotide 1020 within exon 7 of TR beta gene, which was a synonymous mutation that didn't cause the change of amino acid at this position (F245F). The two mutations were heterozygote. No mutation in the exons 7-10 of TR beta gene were identified in other family members.</p><p><b>CONCLUSION</b>A family with thyroid hormone resistance syndrome caused by TR beta gene mutation is first founded in Chinese people.</p>