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Öğe CHRONIC OBSTRUCTIVE PULMONARY DISEASE AND PARAOXONASE-1 192 AND 55 GENE POLYMORPHISMS(Taylor & Francis Ltd, 2010) Tekes, S.; Isik, B.; Yildiz, T.; Simsek, S.; Isik, M. R.; Budak, T.Chronic obstructive pulmonary disease (COPD) is a leading cause of chronic morbidity and mortality. The oxidative stress is increased in COPD patients. Paraoxonase (PON1) in the lung may have a role to protect from oxidative stress. We have investigated a possible relationship between PON1 55 and PON1 192 gene polymorphisms in COPD patients and control subjects. A Total of 62 inpatients of COPD, 45 non-smokers and 35 smokers without COPD were included in the study The serum levels of PON1 were measured. The PON1 genotypes were determined by PCR amplification of the region containing the polymorphism followed by restriction enzyme digestion. The serum levels of PON1 were significantly low in the COPD patients group (p<0.001). There were no statistical differences between the COPD and control groups for PON1 55 polymorphism. The PON1 192 QQ and QR genotypes occurred with similar frequencies in the COPD and control groups with no significant differences while a significant difference was found between the PON1 192 RR allele frequencies (p<0.05) of all groups. PON1 192 gene polymorphism may be considered associated with COPD. PON1 polymorphisms and low PON1 activity levels might be considered as an independent risk factor for COPD.Öğe Cytogenetic and clinical study of a male infant with ambiguous genitalia(Springer, 2007) Oral, D.; Balkan, M.; Duran, H.; Oen, A.; Alp, M. N.; Budak, T.[Abstract Not Available]Öğe Evaluation of clinical and cytogenetic findings on 1,068 second-trimester amniocenteses in Southeast Turkey(7847050 Canada Inc, 2011) Balkan, M.; Akbas, H.; Kalkanli, S.; Sakar, M. N.; Fidanboy, M.; Alp, M. N.; Budak, T.Objective: To investigate the indications of amniocentesis for the detection of chromosomal abnormalities among a sample of patients in Southeast Turkey. Material and Methods: Between 2004 and 2007, 1,068 second-trimester amniocentesis tests were performed in the Medical Biology and Genetics Department Laboratory at Dicle University. Amniotic fluids were cultured by using long-term tissue culture for prenatal diagnosis with cytogenetic analysis. The clinical and cytogenetic findings on 1,068 second-trimester amniocenteses were analyzed. The indications, the proportions of karyotypes according to indications and complications were summarized. Results: Among the 1,068 amniocentesis cases, the maternal age between 35 and 39 years was the most common age group (34.5%). Of the clinical indications abnormal maternal serum screening results were the most common indication for amniocentesis (37.6%). Of 52 cases (4.9%) with detected chromosomal aberrations, 39 were numeric (27 trisomies, 10 sex chromosome aberrations and two triploidies) and 13 were structural (2 reciprocal translocations, 2 Robertsonian translocations and 6 inversions). The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal maternal serum screening combined with abnormal ultrasound (US) findings (8.0%). Conclusion: This study suggests that complementary measures, such as routine antenatal US and maternal serum screening, should be added to increase the efficiency of genetic amniocentesis. Therefore, the study could be used for the establishment of a database for genetic counseling.Öğe 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.Öğe 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.Öğe Two cases of distal trisomy 10q resulting from maternal balanced translocation(Springer, 2007) Akbas, H.; Oral, D.; Yildirim, R.; Fidanboy, M.; Budak, T.[Abstract Not Available]
