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    Chromosome heteromorphisms are more frequent in couples with recurrent abortions
    (Funpec-Editora, 2012) Akbas, H.; Isi, H.; Oral, D.; Turkyilmaz, A.; Kalkanli-Tas, S.; Simsek, S.; Balkan, M.
    Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluated for chromosome heteromorphisms; 221 of these couples (the study group) had recurrent abortions and 234 of them (the control group) had no history of abortions and had at least one living child. The patient group of couples with recurrent abortions were found to have a significantly higher rate of chromosome heteromorphism (8.4%) in comparison with the control group (4.9%). When the patients were evaluated according to gender, males had a significantly higher rate of chromosome heteromorphism (11.3%) than females (5.4%). We conclude that since couples with recurrent abortion and males have higher rate of chromosome heteromorphism, cases of heteromorphism should not be disregarded in the etiological investigation of recurrent abortions. Further research should be done to investigate the phenotypic effects of chromosome heteromorphism.
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    Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey
    (Funpec-Editora, 2010) Balkan, M.; Akbas, H.; Isi, H.; Oral, D.; Turkyilmaz, A.; Kalkanli, S.; Simsek, S.
    We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.
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    Genetics Analysis with Down Syndrome and Histopathological Examination of Buccal Epithelial Cells
    (Soc Chilena Anatomia, 2013) Kalkanli, S.; Simsek, S.; Balkan, M.; Akbas, H.; Isi, H.; Oral, D.; Turkyilmaz, A.
    Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome, while the bud structures in the form of micronuclei was observed in the karyolytic cells.
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    Netherton syndrome resulting from a novel homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree
    (Wiley-Blackwell, 2011) Lai-Cheong, J.; Fong, K.; Akdeniz, S.; Isi, H.; Taskesen, M.; McGrath, J. A.
    [Abstract Not Available]
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    Role of p53 codon 72 polymorphism in chromosomal aberrations and mitotic index in patients with chronic hepatitis B
    (Assoc Bras Divulg Cientifica, 2012) Akbas, H.; Yalcin, K.; Isi, H.; Tekes, S.; Atay, A. E.; Akkus, Z.; Budak, T.
    Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of the p53 protein. The Arg and Pro variants in p53 codon 72 were shown to have different regulation properties of p53-dependent DNA repair target genes that can affect various levels of cytogenetic aberrations in chronic hepatitis B patients. The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+ 119 G>C; rs1042522) polymorphism. Fifty-eight patients with chronic hepatitis B and 30 healthy individuals were genotyped in terms of the p53 gene codon 72 Arg72Pro polymorphism by PCR-RFLP. A 72-h cell culture was performed on the same individuals and evaluated in terms of chromosomal aberrations and mitotic index. A high frequency of chromosomal aberrations and low mitotic index were detected in the patient group compared to the control group. A higher frequency of chromosomal aberrations was detected in both the patient and the control groups with a homozygous proline genotype (13 patients, 3 control subjects) compared to patients and controls with other genotypes [Arg/Pro (38 patients, 20 control subjects) and Arg/Arg (7 patients, 7 control subjects)]. We observed an increased frequency of cytogenetic aberrations in patients with chronic hepatitis B. In addition, a higher frequency of cytogenetic aberrations was observed in p53 variants having the homozygous proline genotype compared to variants having other genotypes both in patients and healthy individuals.
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    A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions
    (Funpec-Editora, 2010) Balkan, M.; Isi, H.; Gedik, A.; Erdemoglu, M.; Budak, T.
    We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22) mat. The marker chromosome was familial and non-satellite. Although the potential risk of small supernumerary marker chromosomes for spontaneous abortions cannot be defined precisely, marker chromosomes, together with methods used for ascertainment, are also factors to be considered when investigating infertility consequences. Furthermore, identification of the origin of a marker chromosome may provide additional information for patient karyotype-phenotype correlations. Further studies, such as molecular analyses to identify the breakpoint, are necessary for investigating phenotype-genotype correlations and assessment of genetic risks for small secondary chromosomes. The cause of repeated spontaneous abortions in this couple might be the presence of this marker chromosome in the husband. Consequently, we recommended genetic counseling before further pregnancies.
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    THE TUMOR NECROSIS FACTOR-A (TNF-A) GENE-308 G/A POLYMORPHISM AND THE TUMOR NECROSIS FACTOR-RELATED APOPTOSIS-INDUCING LIGAND (TRAIL) GENE POLYMORPHISMS IN BEHCET'S DISEASE
    (Diagnosis Press Ltd, 2010) Isi, H.; Erdal, M. E.; Akdeniz, S.; Oral, D.; Ay, O. I.; Tekes, S.; Sula, B.
    Behcet's disease (BD) is a chronic, multisystemic inflammatory disease. The specific etiology of BD remains elusive, but the interaction between infectious-agent exposure and genetic factors may have a role. In this report, we aim to investigate the possible association between pathogenesis of the BD and TNF-alpha gene 308A/G (rs1800629) polymorphism and the TRAIL gene (Arg141His, G422A (rs6557634), Thr209Arg, C626G (rs20575) and Glu228Ala, A683C (rs20576)) polymorphisms in people from southeast of Turkey. The study population consisted of 55 BD patients and 80 healthy subjects. All samples were collected and studied between July 2009 and January 2010. Polymorphisms were detected by polymerase chain reaction restriction fragment length-polymorphism (PCR-RFLP) analysis. The patients and healthy control groups were similar with respect to their ages and sex characteristic. Statistically, there was not significant difference between the BD patients and healthy control groups in terms of TRAIL Arg141His, G422A (rs6557634) polymorphism, TRAIL Thr209Arg, C626G (rs20575), TRAIL Glu228Ala, A683C (rs20576) and TNF-alpha-308 G/A (rs1800629) polymorphisms. We could not detect statistically significant difference between the BD patients and healthy control groups according to TNF-a-308 G/A (rs1800629), TRAIL Arg141His, G422A (rs6557634), TRAIL Thr209Arg, C626G (rs20575) and TRAIL Glu228Ala, A683C (rs20576) gene polymorphism.
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    THE TUMOR NECROSIS FACTOR-A-308 G/A POLYMORPHISM AND THE TUMOR NECROSIS FACTOR-RELATED APOPTOSIS-INDUCING LIGAND POLYMORPHISMS, IN ASTHMATIC PATIENTS AND HEALTHY SUBJECTS
    (Taylor & Francis Ltd, 2010) Isi, H.; Oral, D.; Yildiz, T.; Ates, G.; Sinir, C.; Ay, O. I.; Turkoz, G.
    Asthma is a chronic inflammatory disorder of the airways in which many cells and cellular elements play a role. Like other atopic diseases, asthma is a complex disorder caused by interactions between multiple genes of small to modest effect and equally important environmental factors. The aim of this study was to determine the TNF-alpha-308 G/A polymorphism and the TRAIL polymorphisms, and their influence on asthma in asthmatic patients and healthy subjects. The study population consists of 51 asthmatic patients (47 female and 4 male) and 72 healthy subjects (62 female and 10 male). The mean age of the asthmatic patients and healthy controls were 45.33+/-14.05, and 41.88+/-17.41 years, respectively. The asthmatic patients and healthy controls were similar with respect to their ages and sex characters. There was statistically a significant difference between the asthmatic patients and control groups in terms of TRAIL Arg141His, G422A (rs6557634) polymorphism (p=0.02). Statistically, there was not any significant difference between the asthmatic patients and control groups for TRAIL Thr209Arg, C626G (rs20575) TRAIL Glu228Ala, A683C (rs20576) and polymorphisms (p=0..57). Also, there was no significant difference between the asthmatic patients and control groups in terms of TNF-alpha-308 G/A polymorphism (p=0.90). In our study, the TRAIL Arg141His G422A (rs6557634) polymorphism was detected for the first time in asthmatic patients, which may influence the susceptibility to the asthma.