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[A novel mutation causes congenital factor V deficiency].

Li-hong Hou1, Fei Xie, Xiu-e Liu

  • 1The Second Hospital of Shanxi Medical University, Taiyuan 030001, China.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
|October 25, 2003
PubMed
Summary

A novel mutation, 675delA in exon 4, was identified in the Factor V (FV) gene of a patient with congenital FV deficiency. This genetic defect causes a frameshift, leading to premature termination and reduced FV levels.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Context:

  • Hereditary coagulation factor V (FV) deficiency is a rare bleeding disorder.
  • Identifying the specific gene defect is crucial for diagnosis and genetic counseling.

Purpose:

  • To investigate the genetic basis of hereditary coagulation factor V deficiency in a specific family.
  • To identify the causative mutation in the Factor V gene.

Summary:

  • Plasma FV coagulant activity and antigen levels were significantly reduced in the proband.
  • DNA sequencing revealed a heterozygous one-base pair deletion (675delA) in exon 4 of the FV gene, inherited from the mother.
  • This mutation results in a frameshift and a premature termination codon, explaining the deficient FV levels.

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Impact:

  • Identifies a novel mutation in the FV gene responsible for congenital FV deficiency.
  • Provides insights into the molecular mechanisms underlying FV deficiency.
  • Facilitates accurate genetic diagnosis and potential therapeutic strategies for affected families.