Genetic Mutation of Vitamin K-dependent Gamma-glutamyl Car-boxylase Domain in Patients with Calcium Oxalate Urolithiasis
10.1007/s11596-009-0514-5
- Author:
QIAO JIANKUN
1
;
WANG TAO
;
YANG JUN
;
LIU JIHONG
;
GONG XIAOXIN
;
GUO XIAOLIN
;
WANG SHAOGANG
;
YE ZHANGQUN
Author Information
1. 华中科技大学同济医学院附属同济医院
- Keywords:
calcium oxalate;
urinary calculi;
vitamin K-dependent gamma-glutamyl carboxylase;
mu-tation;
denatured high pressure liquid chromatography
- From:
Journal of Huazhong University of Science and Technology (Medical Sciences)
2009;29(5):604-608
- CountryChina
- Language:Chinese
-
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 sam-ples were obtained from severe hydronephrosis patients (with or without calculi), and renal tumor pa-tients 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.
