Relations of Budd-Chiari syndrome to prothrombin gene mutation.
BACKGROUND
Budd-Chiari syndrome (BCS) is a type of disease characterized by portal hypertension and/or hypertension of the inferior vena cava (IVC) due to the obstruction of the hepatic veins (HV) and/or intrahepatic IVC outlet. Being etiologically complicated and obscure, BCS can be acquired or idiopathic and several gene mutations may be contributable. This study was to explore whether prothrombin gene mutation (FII G20210A) takes part in the pathogenesis of BCS and to investigate their correlativity.


METHODS
In 38 proven BCS patients and 70 controls, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to find FII G20210A mutation. To detect whether there are any mutations, four steps were taken: purification of genome DNA from whole blood, amplification of special fragment by polymerase chain reaction, digestion of the fragment via restriction endonuclease, and analysis of results by polyacrylamide gel electrophoresis.


RESULTS
FII G20210A mutation was not detected in all patients and controls.


CONCLUSIONS
No FII G20210A mutation exists in Chinese patients with BCS, nor correlativity between the occurrence of BCS and FII G20210A mutation. The etiology of BCS in the Chinese needs further investigation.
Lin
Guo-Ling
GL
Department of General Surgery, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Xu
Pei-Qin
PQ
Qi
Hua
H
Lian
Jian-Hua
JH
Zheng
Hong
H
Dang
Xiao-Wei
XW
D000293:Adolescent; D000328:Adult; D006502:Budd-Chiari Syndrome / Q000235:genetics*; D002648:Child; D005260:Female; D015894:Genome, Human; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*
D011516:Prothrombin