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One missense mutation in the factor X gene causing factor X deficiency--factor X Kanazawa
E Morishita1, K Yamaguchi, H Asakura
1Department of Laboratory Sciences, School of Health Science, Kanazawa University, Japan. eriko@med3.m.kanazawa-u.ac.jp
International Journal of Hematology
|May 10, 2001
Summary
This study identified a novel genetic mutation in factor X deficiency. A Japanese patient had a G to A substitution in exon 5, altering protein structure.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- Factor X deficiency is a rare inherited bleeding disorder.
- Understanding the molecular basis is crucial for diagnosis and treatment.
Observation:
- A Japanese patient presented with reduced factor X activity (45%) and antigen levels (50%).
- Analysis of the factor X gene revealed an aberrant DNA fragment in exon 5 using PCR and SSCP.
Findings:
- A heterozygous G to A substitution was identified in exon 5 of the factor X gene.
- This mutation results in an arginine for glycine replacement at codon 114 in the second EGF-like domain.
Implications:
- This finding contributes to the genetic landscape of factor X deficiency.
- The identified mutation provides insight into the structure-function relationship of factor X.