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[The genetics of factor XII deficiency]
Beitrage Zur Infusionstherapie = Contributions to Infusion Therapy
|January 1, 1993
Summary
Genetic analysis of factor XII deficiency identified a single base deletion in exon 12, causing a non-sense protein in patients lacking factor XII activity and antigen. This finding aids in understanding Hageman CRM- trait molecular defects.
Area of Science:
- Hematology
- Molecular Genetics
Context:
- Factor XII deficiency presents as two main types: CRM+ and CRM-.
- Previous research identified an amino acid substitution in a CRM+ case.
- The current study focuses on families with the Hageman CRM- trait.
Purpose:
- To elucidate the genetic defect in Hageman CRM- trait.
- To investigate molecular alterations in the factor XII gene.
Summary:
- Utilized polymerase chain reaction (PCR) and gene sequencing to analyze the factor XII gene in homozygous and heterozygous patients.
- Ruled out major rearrangements, deletions, or insertions in homozygous patients.
- Identified a single base deletion in exon 12, leading to a nonsense protein, in one patient.
Impact:
- Provides molecular insight into a specific genetic defect causing factor XII deficiency.
- The identified mutation can be used for diagnostic purposes, such as deletion-specific restriction fragment length polymorphism analysis.