Sequence analysis of coding regions of KCNJ5 gene in unilateral adrenal hyperplasia.
- Author:
Jingjing ZHANG
1
;
Nanfang LI
;
Yanrong HU
;
Dan SHAO
;
Hai YANG
;
Ling ZHOU
;
Jing HONG
Author Information
- Publication Type:Journal Article
- MeSH: Adrenal Hyperplasia, Congenital; genetics; Adult; Aged; Amino Acid Sequence; Female; G Protein-Coupled Inwardly-Rectifying Potassium Channels; genetics; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation, Missense; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2015;32(1):21-25
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the prevalence of KCNJ5 gene missense mutations and their role in patients with unilateral adrenal hyperplasia (UAH).
METHODSFourteen UAH tissues were collected through surgical resection, and all the tissues were confirmed by pathology. Peripheral blood samples of the same patients were collected as control. The coding regions of the KCNJ5 were detected by direct DNA sequencing. Protein structure and function were predicted with specific software.
RESULTSThree missense mutations were detected among the 14 patients with UAH, which included c.451G>C/A (p.G151R) (2/14), c.503T>G (p.L168R) (1/14), c.830T>A (p.S209T) (9/14). Among these, c.830T>A is a newly identified somatic mutation. Protein structure prediction showed that S209T lied in the second transmembrane domain, a conservation region of KCNJ5. S209 was also the phosphorylation site of PKC that is located in intracellular area.
CONCLUSIONMissense mutations of KCNJ5 gene may be associated with UAH. Protein structure prediction has suggested that KCNJ5 mutations may be associated with UAH.
