吉特尔曼综合征分子遗传学研究进展

Q4 Medicine

中华内分泌代谢杂志 Pub Date : 2020-04-25 DOI:10.3760/CMA.J.CN311282-20190605-00213

Zongyue Li, Chao Xu, Ling Gao

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引用次数: 0

摘要

Gitelman综合征(Gitelman syndrome, GS)是由位于16q13染色体上的SLC12A3基因突变引起的常染色体隐性遗传病。GS发病率为1∶10∶4万。SLC12A3编码噻嗪类敏感氯化钠共转运体(NCC)，在Na+和Cl-重吸收中起关键作用。GS的特点是低钾代谢性碱中毒，并伴有明显的低镁血症和低尿钙排泄。基因型与表型之间存在一定的相关性。在之前的研究中，已经确定了500多个突变，并对其中一些进行了功能分析。本文综述了GS的基因突变、功能研究、基因型与表型的关系，并对GS的分子遗传学研究进展进行了综述。关键词:Gitelman综合征;Na+ /Cl-共转运体;SLC12A3基因突变

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Research process in molecular genetics of Gitelman syndrome

Gitelman syndrome(GS) is an autosomal recessive genetic disease caused by mutations in the SLC12A3 gene located in chromosome 16q13. The incidence of GS is 1-10∶40 000. SLC12A3 encodes thiazide-sensitive sodium-chloride cotransporters(NCC) which play key roles in Na+ and Cl- reabsorption. GS is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. There are some correlations between genotypes and phenotypes. In previous studies, more than 500 mutations have been identified and some of them have been functionally analyzed. We review genetic mutations and functional studies related to GS as well as the relationship between genotypes and phenotypes, and summarize the research process in molecular genetics of GS. Key words: Gitelman syndrome; Na+ /Cl- cotransporter; SLC12A3 gene mutation

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来源期刊

中华内分泌代谢杂志 Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

0.60

自引率

0.00%

发文量

7243

期刊介绍： The Chinese Journal of Endocrinology and Metabolism was founded in July 1985. It is a senior academic journal in the field of endocrinology and metabolism sponsored by the Chinese Medical Association. The journal aims to be the "Chinese broadcaster of new knowledge on endocrinology and metabolism worldwide". It reports leading scientific research results and clinical diagnosis and treatment experience in endocrinology and metabolism and related fields, as well as basic theoretical research that has a guiding role in endocrinology and metabolism clinics and is closely integrated with clinics. The journal is a core journal of Chinese science and technology (a statistical source journal of Chinese science and technology papers), and is included in Chinese and foreign statistical source journal databases such as the Chinese Science and Technology Papers and Citation Database, Chemical Abstracts, and Scopus.