[Clinical and genetic characteristics of Gitelman syndrome in 5 pedigrees].
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 ofSLC12A3gene were amplified by PCR and screened for mutation using Autoassembler 2.0 software.Results:Six heterozygousSLC12A3gene 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 6SLC12A3mutations are the major cause of the five pedigrees of GS.
R R
RR
Shi
C C
CC
Li
L
L
Fang
J
J
Xu
Q B
QB
Guan
X L
XL
Zhou
J
J
Guo
W X
WX
Han
Q
Q
Chen
L
L
Feng
J J
JJ
Zhao
Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong University, Shandong Clinical Medical Center of Endocrinology and Metabolism, Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, Ji'nan 250000, China.
C
C
Xu
D054458:Amplified Fragment Length Polymorphism Analysis; D005091:Exons / Q000235:genetics*; D053579:Gitelman Syndrome / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D064486:Solute Carrier Family 12, Member 3 / Q000235:genetics*
D064486:Solute Carrier Family 12, Member 3
Gitelman syndrome; Mutation; SLC12A3 gene