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

Autor:	Abdi M; Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria meriem.rym.abdi@gmail.com., Zemani-Fodil F; Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria., Fodil M; Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria., Aberkane MS; Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria., Touhami H; Service d'hématologie, Centre Hospitalo-universitaire d'Oran, Boulevard Docteur Benzerdjeb, Plateau, Oran, Algeria., Saidi-Mehtar N; Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria., Costa C; Laboratoire de Génétique Moléculaire, Service de biochimie, Hôpital Henri Mondor, Creteil, France., Boudjema A; Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf, Oran, Algeria.
Jazyk:	angličtina
Zdroj:	Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis [Clin Appl Thromb Hemost] 2014 Oct; Vol. 20 (7), pp. 741-8. Date of Electronic Publication: 2013 Nov 21.
DOI:	10.1177/1076029613513321
Abstrakt:	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. (© The Author(s) 2013.)
Databáze:	MEDLINE
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