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Published on: August 15, 2019

Relations of Budd-Chiari syndrome to prothrombin gene mutation

Guo-Ling Lin1, Pei-Qin Xu, Hua Qi

  • 1Department of General Surgery, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

Hepatobiliary & Pancreatic Diseases International : HBPD INT
|May 13, 2004
PubMed

Insights

This study found no prothrombin gene mutation (FII G20210A) in Chinese Budd-Chiari syndrome (BCS) patients. Further research is needed to understand the causes of BCS in this population.

Area of Science:

  • Hepatology
  • Genetics
  • Vascular Medicine

Background:

  • Budd-Chiari syndrome (BCS) involves hepatic vein or inferior vena cava obstruction, leading to portal hypertension.
  • The etiology of BCS is complex, with potential genetic links.
  • Investigating gene mutations is crucial for understanding BCS pathogenesis.

Purpose of the Study:

  • To determine if the prothrombin gene mutation (FII G20210A) is associated with Budd-Chiari syndrome in Chinese patients.
  • To explore the correlativity between FII G20210A mutation and BCS occurrence.

Main Methods:

  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was employed.
  • Genome DNA was purified from whole blood samples of 38 BCS patients and 70 controls.
  • DNA fragments were amplified, digested, and analyzed using polyacrylamide gel electrophoresis.

Main Results:

  • The FII G20210A mutation was not detected in any of the studied BCS patients or control subjects.
  • No evidence of a link between FII G20210A mutation and BCS was found.

Conclusions:

  • The FII G20210A mutation is not present in Chinese patients diagnosed with BCS.
  • There is no correlativity between the occurrence of BCS and the FII G20210A mutation in the Chinese population.
  • The underlying causes of BCS in Chinese individuals require further investigation.
Abstract

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