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Five novel point mutations: two causing haemophilia B and three causing factor X deficiency

M W Odom1, G Leone, V De Stefano

  • 1Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio 78284.

Molecular and Cellular Probes
|February 1, 1994
PubMed
Summary

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This study identified five novel mutations in the factor IX and factor X genes, providing new insights into the molecular basis of bleeding disorders like hemophilia B. These findings advance our understanding of coagulation factor deficiencies.

Area of Science:

  • Biochemistry
  • Genetics
  • Hematology

Background:

  • Factor IX and X are crucial glycoproteins in the coagulation cascade.
  • Deficiencies in these factors cause bleeding disorders of variable severity.
  • Limited mutations causing factor X deficiency are characterized compared to factor IX deficiency (hemophilia B).

Purpose of the Study:

  • To investigate the molecular basis of factor IX and factor X deficiencies in patients.
  • To identify novel mutations in the genes encoding factor IX and factor X.

Main Methods:

  • Enzymatic amplification and polymerase chain reaction (PCR) were used to amplify specific gene regions.
  • Amplified DNA segments were cloned into pUC18 and sequenced.
  • Genomic DNA from four patients (two with factor IX deficiency, two with factor X deficiency) was analyzed.

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Main Results:

  • Five novel point mutations were identified: two in the factor IX gene and three in the factor X gene.
  • All identified mutations were located in the eighth exon of their respective genes.
  • One mutation in each gene altered homologous histidine residues near the catalytic triad's serine.

Conclusions:

  • This study expands the known spectrum of mutations causing factor IX and factor X deficiencies.
  • The identified mutations provide a deeper understanding of the molecular mechanisms underlying these bleeding disorders.
  • Alterations in critical residues like histidine may impact protein function and coagulation activity.