Screening of thyroid hormone receptor β mutations in patients with congenital hypothyroidism combined with thyroid dysgenesis
10.3760/cma.j.issn.2095-428X.2015.20.007
- VernacularTitle:甲状腺发育不全的先天性甲状腺功能减退患儿甲状腺激素受体β基因突变研究
- Author:
Hongwei ZANG
;
Liping DONG
;
Yucui ZANG
;
Jian CHAI
;
Shengli YAN
;
Shiguo LIU
;
Yinlin GE
- Publication Type:Journal Article
- Keywords:
Congenital hypothyroidism;
Thyroid dysgenesis;
Thyroid hormone receptor β;
Mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2015;(20):1542-1544
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the thyroid hormone receptor β(TRβ)gene mutation types and characteristics in children with congenital hypothyroidism(CH)and thyroid dysgenesis(TD)from Shandong Province,and to provide theoretical basis for gene diagnosis and prenatal diagnosis. Methods Sixty cases of TD patients of which genomic DNA were isolated from peripheral blood leukocytes were selected by neonatal screening system in Shandong Province. The exon 6 to 12 of TRβ gene were amplified with 8 pairs of sequence specific primers using PCR and the first generation of sequencing method(Sanger method)to detect mutation. The sequencing results were compared with the TRβ gene reference sequence[National Center for Biotechnology Information(NCBI)Reference Sequence:NC 000003. 12]to see whether there was a mutation. Results Analysis of TRβ in 60 cases of CH patients with TD revealed no mutation was demonstrated in exons 6 - 12,but 2 single nucleotide polymorphism(SNP)( rs 3752874,c. 735C ﹥ T;rs79220627, c. 162G ﹥ A)were detected. Through the analysis,the 2 SNP were all synonymous mutations(Phe→Phe;Ser→Ser), without the change of the amino acids. Conclusions TRβ mutation rate is very low,which may not be the main mutation type in CH patients with TD in Shandong Province.
