title: First molecular analysis of F8 gene in algeria: identification of two novel mutations.
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.
authors.affiliation: Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria meriem.rym.abdi@gmail.com.
authors.forename: Meriem
authors.initials: M
authors.lastname: Abdi
authors.affiliation: Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria.
authors.forename: Faouzia
authors.initials: F
authors.lastname: Zemani-Fodil
authors.affiliation: Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria.
authors.forename: Mostefa
authors.initials: M
authors.lastname: Fodil
authors.affiliation: Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria.
authors.forename: Meriem Samia
authors.initials: MS
authors.lastname: Aberkane
authors.affiliation: Service d'hématologie, Centre Hospitalo-universitaire d'Oran, Boulevard Docteur Benzerdjeb, Plateau, Oran, Algeria.
authors.forename: Hadj
authors.initials: H
authors.lastname: Touhami
authors.affiliation: Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria.
authors.forename: Nadhira
authors.initials: N
authors.lastname: Saidi-Mehtar
authors.affiliation: Laboratoire de Génétique Moléculaire, Service de biochimie, Hôpital Henri Mondor, Creteil, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Costa
authors.affiliation: Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria.
authors.forename: Abdallah
authors.initials: A
authors.lastname: Boudjema
mesh_terms: D000293:Adolescent; D000328:Adult; D000462:Algeria; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation
chemical_list: C078147:F8 protein, human; D005169:Factor VIII
keywords: West Algeria; factor 8; hemophilia A; intron 1 inversion; intron 22 inversion