First molecular analysis of F8 gene in algeria: identification of two novel mutations

Clin Appl Thromb Hemost. 2014 Oct;20(7):741-8. doi: 10.1177/1076029613513321. Epub 2013 Nov 21.

Abstract

The aim of this study was to detect the genetic alterations in the Factor 8 gene in 26 patients from Western Algeria. We detected the presence of "intron 22 inversion" with long-range polymerase chain reaction (PCR). Negative patients for this inversion were analyzed for "intron 1 inversion" using multiplex PCR. Patients who were negative for both inversions were analyzed using a direct sequencing. Deleterious effects of novel mutations on protein were assayed with bioinformatics tools. Causing mutations were identified in 85.71% of the families, including 11 "intron 22 inversion," 1 "intron 1 inversion," and 6 different point mutations (2 nonsense, 1 splice site, and 3 missense mutations). Among these mutations, c.2189G > A (p.Cys711Tyr) and c.5219+1G>T are novel. This is the first study that reports spectrum of mutations in the Factor 8 gene in the Western Algerian population. Knowledge of these mutations is important for genetic counseling and medical care of affected families.

Keywords: West Algeria; factor 8; hemophilia A; intron 1 inversion; intron 22 inversion.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Algeria
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Factor VIII / genetics*
  • Female
  • Humans
  • Introns*
  • Male
  • Middle Aged
  • Multiplex Polymerase Chain Reaction
  • Mutation*

Substances

  • F8 protein, human
  • Factor VIII