Yazar "Yalcintepe, Sinem" seçeneğine göre listele

Listeleniyor 1 - 3 / 3
  • [ X ]
    Öğe
    High frequency of chromosomal anomalies and a novel chromosomal insertion associated with infertility and recurrent miscarriages (reproductive failure) in West Turkey
    (Gene Therapy and Molecular Biology, 2014) Sılan, Fatma; Yalcintepe, Sinem; Uysal, Digdem; Urfali, Mine; Uludağ, Ahmet; Cosar, Emine; Gungor, Ayse Nur Cakir
    Numerical and/or structural chromosomal abnormalities may be a reason of high infertility rates and recurrent pregnancy losses (RPLs) in humans. Karyotype and karyogram profiles of patients with RPLs are presented in current results. A total of 722 patients; 161(44.5%) infertile and 200(55.5%) RPL couples were included in the study. Karyotype and structural chromosome analyses of both patient groups in Canakkale population were made between May 2011-December 2013, using peripheral lymphocyte cell culture and GTG banding technique. High frequency of chromosomal abnormalities(%7.45) were detected in 24 patients of the infertility group(n:322). 10 patients(42%) of this group(n:24) had numerical and 14 patients(58%) had balanced structural choromosomal abnormalities. A novel choromosomal insertion was found in an infertile male, one of the 22th choromosome was totally inserted in 9th choromosome [ins(9;22)(9pter-q12
  • [ X ]
    Öğe
    Multiple Inherited Thrombophilic Gene Polymorphisms in Spontaneous Abortions in Turkish Population
    (Cellular & Molecular Biology Research Center, 2015) Yalcintepe, Sinem; Özdemir, Öztürk; Hacivelioglu, Servet Ozden; Akurut, Cisem; Koc, Evrim; Uludağ, Ahmet; Cosar, Emine
    The aim of this study was to investigate the possible role of multiple inherited thrombophilic gene variations in women with unexplained spontaneous abortions. For this purpose, the Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), PAI-1 4G/5G (rs1799889), ACE I/D (rs1799752), eNOS E298D (rs1799983), and Apo E E2/E3/E4 (rs429358) polymorphisms were genotyped and correlated in spontaneously aborted fetal materials, their mothers and fertile women. Twenty three abortion materials, 22 women with >= 1 unexplained fetal loss, and 22 control subjects with at least two healthy term infants as a control group were studied. Target SNPs for each gene were analyzed by real time-PCR technique after genomic DNA isolation from maternal blood-EDTA, control group blood-EDTA and spontaneously aborted fetal tissues. Some cases had a single thrombophilic polymorphism, but the rest of the patients and fetal materials had combined thrombophilic polymorphisms. The PAI-1 4G/5G+4G/4G (P=0.0017), 4G/4G (P=0.0253), eNOS 894GT+894TT (P=0.0011) genotypes and T allele (P=0.0185), Apo E E3/E4+E3/E2+E2/E4 (P<0.0001) genotypes, E2 (P<0.0001) and E4 (P<0.0001) alleles were higher in spontaneously aborted fetal materials when compared to their mothers and control group. The Factor V Leiden rs6025, Prothrombin G20210A, MTHFR C677T, ACE I/D genotypes were different for each group but not statistically significant due to relatively small size of the samples (P>0.05). Our results indicated that combined thrombophilic gene variations may be associated with increased risk for spontaneous abortions and results need to be confirmed by larger sample size.
  • [ X ]
    Öğe
    The CYP4502D6*4 and*6 alleles are the molecular genetic markers for drug response: implications in colchicine non-responder FMF patients
    (Springer France, 2016) Yalcintepe, Sinem; Özdemir, Öztürk; Sılan, Coşkun; Ozen, Filiz; Uludağ, Ahmet; Candan, Ferhan; Sılan, Fatma
    The cytochrome P450 2D6 (CYP2D6) is a cytochrome P450 enzyme involved in the oxidative biotransformation of the xenobiotics, carcinogens and various clinically important drugs. Patients are evaluated in three sub-groups of extensive (EM), intermediate (IM) and poor metabolizer (PM) phenotypes due to their drug-metabolising ability for the target CYP2D6 gene. Colchicine non-responsive FMF patients were prospectively genotyped for the major CYP2D6 alleles in the current study. Major CYP2D6 alleles of *1, *3, *4, *5, and *6 were genotyped for 30 responsive and 60 non-responsive FMF patients by multiplex PCR-based reverse-hybridization StripAssay and real-time PCR methods. DNA banks isolated from blood-EDTA were retrospectively used in the current patients and results were compared statistically. Increased CYP2D6 *4 and *6 allele frequencies were highly detected in the colchicine non-responsive FMF patients when compared to the responsive group. Results showed the frequencies of major CYP2D6 *1(wild), *3(2637A > delA), *4(G1934A), *5(total gene deletion) and *6(1707T del) alleles in 0.550, 0.042, 0.158, 0.025 and 0.225 for non-responder and 0.880 and 0.120 (CYP2D6*1 and *4) for the responder groups, respectively. Despite small sample size, this study suggests that there is an association between CYP2D6*4 and CYP2D6*6 alleles and drug intoxicants in colchicine non-responder FMF patients.