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[Analysis of phenotype and genotype in two Chinese pedigrees with hereditary protein C deficiency]

Xiao-Hong Cai1, Rong-Fu Zhou, Shuang Xie

  • 1Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
|July 26, 2007
PubMed

Insights

Two novel mutations in the protein C gene were identified in Chinese families with hereditary protein C deficiency. These genetic findings advance our understanding of protein C deficiency and its genetic basis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • Hereditary protein C deficiency is a rare genetic disorder associated with an increased risk of venous thromboembolism.
  • Identifying specific gene mutations is crucial for understanding disease mechanisms and genetic counseling.

Purpose of the Study:

  • To identify the specific gene mutations and clinical phenotypes in two Chinese pedigrees affected by hereditary protein C deficiency.

Main Methods:

  • Plasma levels of protein C activity (PC:A), protein C antigen (PC:Ag), protein S activity (PS:A), and antithrombin activity (AT:A) were measured.
  • The protein C gene was analyzed using PCR amplification, direct sequencing, and restriction enzyme site analysis.

Main Results:

  • Proband 1 exhibited compound heterozygous mutations (C64W and F139V) in the protein C gene, with C64W being a novel mutation.
  • Proband 2 carried a heterozygous deletion mutation (K150 or 151 Del) and homozygous promoter polymorphisms (CC/GG/TT).
  • The F139V and K150/151 deletion mutations were reported for the first time in China.

Conclusions:

  • Compound heterozygous mutations C64W and F139V are associated with type I hereditary protein C deficiency in Proband 1.
  • The K150/151 deletion mutation and specific promoter polymorphisms may contribute to type I hereditary protein C deficiency in Proband 2.
  • This study identifies novel and previously unreported mutations in the protein C gene within the Chinese population.
Abstract

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