Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis.
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.
Qiao
Jiankun
J
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. qjk1127@sina.com
Wang
Tao
T
Yang
Jun
J
Liu
Jihong
J
Gong
Xiaoxin
X
Guo
Xiaolin
X
Wang
Shaogang
S
Ye
Zhangqun
Z
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*
D002129:Calcium Oxalate; D019735:Carbon-Carbon Ligases; C020660:glutamyl carboxylase