title: Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis.
abstract: To investigate the exon mutation of vitamin K-dependent gamma-glutamyl carboxylase (GGCX or VKDC) in patients with calcium oxalate urolithasis, renal cortex and peripheral blood samples were obtained from severe hydronephrosis patients (with or without calculi), and renal tumor patients undergoing nephrectomy. GGCX mutations in all 15 exons were examined in 44 patients with calcium oxalate urolithiasis (COU) by polymerase chain reaction (PCR) and denatured high pressure liquid chromatography (DHPLC), and confirmed by sequencing. Mutation was not found in all COU samples compared to the controls. These data demonstrated that functional GGCX mutations in all 15 exons do not occur in most COU patients. It was suggested that there may be no significant association between the low activity and mutation of GGCX in COU.
authors.affiliation: Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. qjk1127@sina.com
authors.forename: Jiankun
authors.initials: J
authors.lastname: Qiao
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Yang
authors.forename: Jihong
authors.initials: J
authors.lastname: Liu
authors.forename: Xiaoxin
authors.initials: X
authors.lastname: Gong
authors.forename: Xiaolin
authors.initials: X
authors.lastname: Guo
authors.forename: Shaogang
authors.initials: S
authors.lastname: Wang
authors.forename: Zhangqun
authors.initials: Z
authors.lastname: Ye
mesh_terms: D000328:Adult; D000368:Aged; D002129:Calcium Oxalate / Q000032:analysis*; D019735:Carbon-Carbon Ligases / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D052878:Urolithiasis / Q000235:genetics*
chemical_list: D002129:Calcium Oxalate; D019735:Carbon-Carbon Ligases; C020660:glutamyl carboxylase