Thyroid hormone resistance syndrome caused by V458A mutation in the thyroid hormone receptor ? gene
- VernacularTitle:甲状腺激素受体?基因V458A点突变所致甲状腺激素抵抗综合征
- Author:
Fang YU
;
Yongjie ZHAO
;
Ying CHEN
;
Xiaohua JIANG
;
Liqun GU
;
Hua SUN
;
Jieli LU
;
Guang NING
- Publication Type:Journal Article
- Keywords:
Thyroid hormone resistance syndrome;
Thyroid hormone receptor ?;
Point mutation
- From:
Chinese Journal of Endocrinology and Metabolism
1986;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the genotype of the thyroid hormone receptor ? (THRB) gene in a patient with thyroid hormone resistance syndrome. Methods The peripheral blood samples of the patient and his parents were collected, then DNA was isolated. PCR and direct sequencing techniques were performed to determine if there were mutations in their THRB gene. Results No mutation was found in exon 1-9. There was a point mutation in exon 10 of THRB which is a T to C transition in nucleotide 1658 resulting in the replacement of the normal Val (GTG) with an Ala (GCG) (V458A). The mutation was located in exon 10 of THRB gene and was a heterozygote. No mutation was found in THRB gene of his parents.Conclusion The gene diagnosis confirms that the patient has a mutation V458A located in the ligand binding area of THRB.
