Research process in molecular genetics of Gitelman syndrome
10.3760/cma.j.cn311282-20190605-00213
- VernacularTitle:Gitelman综合征分子遗传学研究进展
- Author:
Zongyue LI
1
;
Chao XU
;
Ling GAO
Author Information
1. 山东大学附属省立医院内分泌科，山东省内分泌代谢病临床医学中心，山东省临床医学研究院内分泌代谢研究所，济南 250021
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(4):348-351
- CountryChina
- Language:Chinese
-
Abstract:
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.
