[Study on TR beta gene mutation in a thyroid hormone resistance syndrome family].
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.


CONCLUSIONS
A family with thyroid hormone resistance syndrome caused by TR beta gene mutation is first founded in Chinese people.
Liu
Jing-fang
JF
Department of Endocrinology, First Affiliated Hospital, Medical College, Xi'an Jiaotong University, Xi'an, Shaanxi 710061, P. R. China. shibingy@chinadoctor.com.cn
Shi
Bing-yin
BY
D000328:Adult; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*
D037042:Thyroid Hormone Receptors beta