Thèses doctorat

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    Detection of CFTR mutations using PCR/ARMS in a sample of Algerian population
    (University of sciences and technology in Oran, 2015-06-01) Sediki, Fatima Zohra; Radoui, Abdelkarim; Cabet, Faiza; Zemani-Fodil, Faouzia; Saidi-Mehtar, Nadhira; Boudjema, Abdallah
    Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Wrongly considered as a European disease, CF is found in Algeria; but the literature data on the clinical profile and the spectrum of CFTR gene mutations are poor. In this study we investigate twenty-four unrelated Algerian families, with at least one child with CF. DNA extracts from blood samples of patients and parents were screened for CFTR gene mutations using Elucigene CF30 Kit which is based on a PCR/ARMS technique. Only five different mutations were identified. On the 48 alleles studied, most com- mon mutations were: c.1521_1523delCTT (F508del) 18.75%, c.579+1G>T (711+1G>T) 12.5%, c.1624G>T (G542X) 10.41%, c.3909C>G (N1303K) 4%, and c.1652G>A (G551D) 2%. The Elucigene CF30 kit highlights a portion of CFTR mutations in the Algerian population. It remains important for a first screening as it reveals the most common mutations. All this information is of interest for genetic testing and genetic counseling in Algeria and in European countries where immigration from the Maghreb is common.
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    Caractéristiques morpho-biométriques et systèmes d'élevage des poules locales en Algérie occidentale (Oranie)
    (University of sciences and technology in Oran, 2015-05-26) Mahammi, Fatima Zohra; Souheil Bachir Samir Gaouar; Nacera Tabet-Aoul; Michèle Tixier-Boichard; Nadhira Saïdi-Mehtar
    Des enquetes ont ete menees dans 48 elevages repartis sur les 9 wilayas de la region de l’Oranie afin de caracteriser les populations de poules locales et leur mode d’elevage. Ces enquetes ont porte sur les caracteristiques des elevages (etat socio-economique de l’eleveur, mode d’elevage, reproduction et destination des produits d’elevage) et sur la description phenotypique de 334 poules locales. Les resultats montrent que les femmes sont les principales responsables des elevages avicoles et qu’elles utilisent le revenu modeste de ce type d’exploitations pour repondre a certaines charges domestiques. Les poules sont elevees dans des conditions mediocres et leur productivite est faible. Les mensurations corporelles considerees (poids corporel, longueur des pattes et des barbillons, diametre des pattes et hauteur des cretes) confirment le dimorphisme sexuel connu dans cette espece, avec des valeurs de poids corporel significativement plus elevees chez le male (1 817 297 g) que chez la femelle (1 335 227 g). Cette etude sera completee par une caracterisation genetique et moleculaire. Ainsi, l’association de l’information phenotypique et genetique et l’amelioration des conditions d’elevage pourront aider les eleveurs a ameliorer les performances de cette activite.
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    Association des polymorphismes du gène méthylène-tétrahydrofolate réductase avec la leucémie myéloïde chronique
    (University of sciences and technology in Oran, 2015-04-28) Dorgham, Samia; Meriem Aberkane; Wefa Boughrara; Badra Antar Soltan; Nemra Mehalhal; Hadj Touhami
    Methylene-tetrahydrofolate reductase (MTHFR) is a key enzyme of folate metabolism. Few studies were reported about its relationship with chronic myeloid leukemia (CML). We conducted a case-control study analyzing the prevalence of the polymorphisms MTHFR C677T and MTHFR A1298C in Algerians CML patients. Using TaqMan® allelic discrimination assay,we investigate MTHFR C677T and A1298C polymorphism distribution in 90 cases of CML and 100 healthy subjects. The frequencies of 677T alleles and genotypes 677TT and 677CT were significantly higher in cases than in control (P = 1E-6; OR= 6.77 [4.22-10.86]) and (P = 1E-6; OR= 10.38 [4.56-23.6]) respectively. Also, the frequencies of 1298C alleles and genotypes 1298CC and 1298AC were higher in cases (P = 9 E-6; OR= 2.65 [1.71-4.10]) and (P = 0.008; OR= 2.22 [1.21-4.06]) respectively. We report also the higher significance of the haplotype 677T/1298A and 677T/1298C in cases (P = 0.007; OR= 2.57 [1.26-5.24]) and (P = 5 E-6, OR= 6.91 [2.7646-17.2899]) respectively. Our results demonstrate that 677T and 1298C alleles are both associated with an increased risk of CML in Algeria.