Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-11-01 DOI:10.1590/0004-2730000003436

Chunyun Fu, Shaoke Chen, Rongyu Chen, Xin Fan, Jingsi Luo, Chuan Li, Jiale Qian

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引用次数: 9

Abstract

Objective: Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Region of China, to determine the nature and frequency of NIS gene mutations among patients with CH due to dyshormonogenesis.

Subjects and methods: Blood samples were collected from 105 dyshormonogenetic CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the NIS gene together with their exon-intron boundaries were screened by next-generation sequencing.

Results: Two silent variations (T221T and T557T) and one missense variation (M435L), as well as two polymorphisms (rs200587561 and rs117626343) were found.

Conclusions: Our results indicate that the NIS mutation rate is very low in the Guangxi Zhuang Autonomous Region, China, and it is necessary to study mutations of other genes that have major effects on thyroid dyshormonogenesis and have not as yet been studied in this population.

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105例中国先天性甲状腺功能减退症患者碘化钠同转运体基因突变筛查。

目的:据报道，先天性甲状腺功能减退症(CH)与碘化钠同调体(NIS)基因突变有关。本研究是在中国广西壮族自治区进行的，目的是确定由于激素生成障碍而导致的CH患者中NIS基因突变的性质和频率。对象和方法:采集广西壮族自治区105例激素异常CH患者血样，提取外周血白细胞基因组DNA。利用新一代测序技术筛选NIS基因的所有外显子及其外显子-内含子边界。结果:发现2个沉默变异(T221T和T557T)和1个错义变异(M435L)，以及2个多态性(rs200587561和rs117626343)。结论:我们的研究结果表明，中国广西壮族自治区的NIS突变率很低，有必要研究其他对甲状腺激素异常发生有重要影响的基因的突变，这些基因尚未在该人群中进行研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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