A Novel Single Nucleotide Polymorphism of the Human Thyrotropin Receptor and Evaluation the Effect on Development of Graves Disease
- VernacularTitle:TSHR基因上新发现SNP及其在GD致病中的评价
- Author:
Jun LIANG
;
Ling GAO
;
Yan SHENG
;
Huaidong SONG
;
Jiajun ZHAO
- Publication Type:Journal Article
- Keywords:
TSHR gene;
SNP;
GD
- From:
Journal of Medical Research
2006;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To obtain more information concerning polymorphism of the thyrotropin (TSHR) in Graves diseases(GD). Methods (1)A family of GD was studied (including 3 patients and 9 healthy family members)to examine SNPs of TSHR through direct sequencing of all 10 exons and part of introns. (2)In the current case-control study, 30 patients with familiar GD, 48 sporadic patients and 96 healthy control individuals were used to assess whether SNP of TSHR was associated with GD. Genomic DNA was extracted from peripheral leukocytes isolated from ACD-anticoagulated blood. Ten exons were amplified by PCR, using primers designed by ourselves. After purifying, the products were sequenced. Results Eight polymorphisms were found. There was a novel polymorphism in exon 8. There were no significant differences between patients and controls. Conclusions These findings suggested that the novel and other polymorphisms of the TSHR gene may not be responsible for GD. There are racial differences in the distribution of polymorphisms of TSHR gene.
