Study on TR beta gene mutation in a thyroid hormone resistance syndrome family.
- Author:
Jing-fang LIU
1
;
Bing-yin SHI
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Base Sequence; Child; DNA Mutational Analysis; Family Health; Female; Heterozygote; Humans; Male; Mutation; Pedigree; Polymerase Chain Reaction; Thyroid Hormone Receptors beta; genetics; Thyroid Hormone Resistance Syndrome; genetics
- From: Chinese Journal of Medical Genetics 2006;23(4):423-426
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the gene mutation of thyroid hormone receptor beta (TR beta) in a family with thyroid hormone resistance syndrome.
METHODSThe 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.
RESULTSFive 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.
CONCLUSIONA family with thyroid hormone resistance syndrome caused by TR beta gene mutation is first founded in Chinese people.
