Journal of Hematology & Thromboembolic Diseases
Open Access

Sylvia Kepa

Publications

• Research Article
  Influence of Imprinting of an X Chromosome and of the Methylene Tetrahydrofolate Reductase (MTHFR) 677C>T Polymorphism on FVIII Activity
  Author(s): Birgit Horvath, Raute Sunder-Plassmann, Cihan Ay, Sylvia Reitter-Pfoertner, Sylvia Kepa, Christoph Male, Ingrid Pabinger and Christine MannhalterBirgit Horvath, Raute Sunder-Plassmann, Cihan Ay, Sylvia Reitter-Pfoertner, Sylvia Kepa, Christoph Male, Ingrid Pabinger and Christine Mannhalter
  
  Background: In females, one X-chromosome is transcriptionally silenced by methylation of CpG sites in every cell during early embryogenesis. The methyl groups needed for DNA methylation are provided by the methylenetetrahydrofolate reductase (MTHFR). A polymorphism in the enzyme (677C>T, rs1801133) affects MTHFR concentrations and possibly also methylation of X-chromosomal genes. Whether X-chromosome inactivation (XCI) by methylation is associated with the MTHFR 677C>T genotype is currently unknown. It is also unclear whether the imprinting subsequently influences factor VIII activity in carrier females. Methods: We determined XCI in 61 hemophilia A carrier females and 174 control females by analysis of the human androgen receptor locus. Genotyping of MTHFR 677C>T was performed by mutagenically separated PCR, FVIII:C was tested by one.. View More»
  DOI: 10.4172/2329-8790.1000218

  Abstract PDF

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