Jing-fang Liu1, Bing-yin Shi. 1. Department of Endocrinology, First Affiliated Hospital, Medical College, Xi'an Jiaotong University, Xi'an, Shaanxi 710061, P. R. China. shibingy@chinadoctor.com.cn
Abstract
OBJECTIVE: To detect the gene mutation of thyroid hormone receptor beta (TR beta) in a family with thyroid hormone resistance syndrome. METHODS: 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. RESULTS: 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. CONCLUSION: A family with thyroid hormone resistance syndrome caused by TR beta gene mutation is first founded in Chinese people.
OBJECTIVE: To detect the gene mutation of thyroid hormone receptor beta (TR beta) in a family with thyroid hormone resistance syndrome. METHODS: 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. RESULTS: 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. CONCLUSION: A family with thyroid hormone resistance syndrome caused by TR beta gene mutation is first founded in Chinese people.
Authors: T Bayraktaroglu; J Noel; F Alagol; N Colak; N M Mukaddes; S Refetoff Journal: Exp Clin Endocrinol Diabetes Date: 2008-06-17 Impact factor: 2.949