Objective: To investigate the clinical and genetic characteristics of 5 pedigrees of Gitelman syndrome (GS), and summarize its advances in genetics, diagnosis and management. Methods: Five families with GS were identified and total genome DNA were extracted from the peripheral blood of all the family members. The exons and their flanking introns of SLC12A3 gene were amplified by PCR and screened for mutation using Autoassembler 2.0 software. Results: Six heterozygous SLC12A3 gene mutations were found in the five pedigrees, including two complex combination of deletion and insertion mutation (c.486-490delTACGGinsA and c. 965-1_969delgCGGACinsACCGAAA and c. 976-977delGT). These mutations were predicted to change the normal protein structure. Conclusion: These 6 SLC12A3 mutations are the major cause of the five pedigrees of GS.
目的：探讨Gitelman综合征的临床特征和基因筛查特点并总结Gitelman综合征在遗传、诊断和治疗等领域取得的新进展。方法：选取5个临床疑似Gitelman综合征的家系，留取其家系成员的外周血，合成引物并分别扩增各家系成员的SLC12A3基因所有外显子及相邻内含子区，纯化产物并进行DNA测序，应用Autoassembler 2.0软件将测序结果与正常基因组序列进行对比分析，寻找相关致病突变位点，并对筛查结果进行分析。结果：在这5个家系中共发现了6种SLC12A3基因突变，均为杂合突变，其中2种突变为复杂插入缺失框移突变(1)c.486－490delTACGGinsA以及(2)c.965－1_969delgCGGACinsACCGAAA和c.976－977delGT。推测这6种突变均可导致蛋白结构的改变，从而影响其功能。结论：SLC12A3基因突变是这5个家系发病的主要原因。.
Keywords: Gitelman syndrome; Mutation; SLC12A3 gene.