Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome
复制标题
中国Gitelman综合征患者SLC12A3基因的遗传分析
DOI：
10.12659/msm.916069
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发表时间：
2019-08-09
影响因子：
3.1
通讯作者：
Guan, Meiping
中科院分区：
文献类型：
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作者：
Zeng, Yanmei;Li, Ping;Guan, Meiping
背景我院吉特尔曼综合征（GS）的发病率呈上升趋势。本研究的目的是探讨SLC 12 A3基因在中国人GS诊断中的准确性和特征。材料/方法我们检索PubMed数据库中截至2018年7月关于中国GS患者的文献，并纳入我院8例GS患者进行分析，探讨SLC 12 A3基因的特征。我们根据诊断共识将所有患者分为3组。完全依从性定义为含有2个等位基因突变，部分依从性定义为含有1个等位基因突变，临床依从性定义为无突变。结果共纳入137例患者，共检出90个突变。错义突变占72%以上，其中以Thr 60 Met最常见。根据共识，完全依从组102例（74.5%），部分依从组31例（22.6%），临床依从组仅4例（2.9%）。结论中国GS患者SLC 12 A3基因突变以Thr 60 Met为最常见，为错义突变之一。大多数患者属于完全依从组（即，2个等位基因突变）;其他病例可能由基因重排解释。
Background The incidence of Gitelman syndrome (GS) has been increasing in our hospital. The aim of this study was to explore the diagnostic accuracy and features of SLC12A3 gene in Chinese patients with GS. Material/Methods We searched the literature about Chinese patients with GS in the PubMed database up to July 2018 and also included 8 GS Chinese patients from our hospital in our analysis that explored the features of SLC12A3 gene. We divided all the patients into 3 groups according to diagnostic consensus. Complete compliance was defined to mean containing 2 allelic mutations, partial compliance to mean one allelic mutation, and clinical compliance to mean no mutations. Results Totally, 137 patients were enrolled in this study and 90 mutations were counted. Missense mutations accounted for over 72% in Chinese GS patients and the most common one was Thr60Met. According to the consensus, there were 102 patients (74.5%) in the complete compliance group, 31 patients (22.6%) in the partial compliance group, and only 4 patients (2.9%) in the clinical compliance group. Conclusions The SLC12A3 gene analysis in Chinese GS patients revealed that the most common mutation was Thr60Met, one of the missense mutations. Most of the patients were in the complete compliance group (i.e., 2 allelic mutations); the other cases might be explained by gene rearrangement.