title: [Sequence analysis of coding regions of KCNJ5 gene in unilateral adrenal hyperplasia].
abstract: OBJECTIVE
  To investigate the prevalence of KCNJ5 gene missense mutations and their role in patients with unilateral adrenal hyperplasia (UAH).
  
  
  METHODS
  Fourteen 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.
  
  
  RESULTS
  Three 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.
  
  
  CONCLUSIONS
  Missense mutations of KCNJ5 gene may be associated with UAH. Protein structure prediction has suggested that KCNJ5 mutations may be associated with UAH.
authors: Hypertension Center of the People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Hypertension Institute, Urumqi, Xinjiang 830001, P. R. China. Email: lnanfang2010@sina.com.
authors: Jingjing
authors: J
authors: Zhang
authors: Nanfang
authors: N
authors: Li
authors: Yanrong
authors: Y
authors: Hu
authors: Dan
authors: D
authors: Shao
authors: Hai
authors: H
authors: Yang
authors: Ling
authors: L
authors: Zhou
authors: Jing
authors: J
authors: Hong
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D005260:Female; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA
chemical_list: D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; C484274:KCNJ5 protein, human