Papers by Ayfer Pazarbaşi
Mutation research, Jan 10, 2006
Phenylalanine hydroxylase (PAH) gene mutations were investigated in 23 (46 alleles) unrelated phe... more Phenylalanine hydroxylase (PAH) gene mutations were investigated in 23 (46 alleles) unrelated phenylketonuria (PKU) patients in Cukurova region. First, all exons of PAH gene were screened by denaturing high performance liquid chromatography (DHPLC), and then, the suspicious samples were analyzed by direct sequencing technique. Consequently, the following results were obtained: IVS10-11g-->a splicing mutation in 27/46 (58.7%), R261Q mutation in 7/46 (15.2%) and E178G, R243X, R243Q, P281L, Y386C, R408W mutations, each found in the frequency of 2/46 (4.3%). In many countries, Arginine mutations have the highest frequency among PAH gene mutations in PKU patients. Although, CpG dinucleotids are effective in mutations resulting in arginine changes, this finding originated from the studies on the causes of mutations rather than the studies on the importance of arginine amino acid. In our analyses, we have detected that a majority of mutations causing a change in arginine and other amino...
Acta medica Okayama, 2006
This study included 45 patients with intentional insecticide intoxication and 21 with accidental ... more This study included 45 patients with intentional insecticide intoxication and 21 with accidental intoxication who were treated at the First-Aid and Emergency Department of Balcali Hospital at the Faculty of Medicine in the Cukurova University, Adana, Turkey, while the control group consisted of 25 people selected from university personnel known to be healthy. Patients with a history of X-ray exposure in the last 6 months or of any virus disease as well as continuous drug users and smokers were excluded, leaving a total of 49 patients. Acetylcholine esterase (Pseudocholinesterase) enzyme (AchE), sister-chromatid exchanges (SCE), the mitotic index (MI), and the replication index (RI) were evaluated. Blood samples were cultured for SCE evaluation and sera separated for AchE levels. Insecticide exposure was generally intentional for suicide in adolescents and at older ages, but accidental for children. AchE levels were found to be significantly lower in organophosphorus (OP) and carbama...
Journal of medical entomology, 2006
In total, 320 phelebotomine sand flies from Alibozlu (Osmaniye), Kizyusuflu (Osmaniye), and Sanli... more In total, 320 phelebotomine sand flies from Alibozlu (Osmaniye), Kizyusuflu (Osmaniye), and Sanliurfa in southeastern Turkey were tested for the detection and identification of Leishmania in vector sand flies by enzyme-linked immunosorbent assay with species-specific monoclonal antibodies. We used monoclonal antibodies that recognize both Leishmania tropica and Leishmania major, and a monoclonal antibody specific only to L. tropica. Phosphate-buffered saline and monoclonal antibody M2 recognizing Leishmania amazonensis were used as controls. Infection rates of sand flies were 0.9% in Alibozlu, 0% Kizyusuflu, and 3.6% in Sanliurfa. Positive sand flies were identified as Phlebotomus sergenti Parrot and Phlebotomus major syriacus Adler & Theodor.
Indian journal of human genetics, 2013
Estrogen is one of the most crucial hormones participating in the proliferation and carcinogenesi... more Estrogen is one of the most crucial hormones participating in the proliferation and carcinogenesis of the prostate glands. Genetic polymorphisms in the estrogen metabolism pathway might be involved in the risk of prostate carcinoma development. We evaluated the association between genetic polymorphisms in estrogen receptor alpha (ESR1) and catechol-O-methyltransferase (COMT) genes and the risk of developing familial prostate carcinoma. In this study, 34 cases with prostate carcinoma whose first-degree relatives had prostate carcinoma and 30 healthy age-matched male controls were enrolled. The genotypes of ESR1 and COMT genes were analyzed employing polymerase chain reaction-restriction fragment length polymorphism method. 34 cases with prostate carcinoma, whose first degree relatives had prostate carcinoma and 14 age-matched male controls were enrolled to analyze the genotype of these two genes. Among control patients, the ESR1 PvuII genotypes of C/C, C/T and T/T were observed in 37...
Balkan Journal of Medical Genetics, 2009
Polysomy 49,XXXXY is a rare sex chromosome aneuploidy syndrome characterized by mental retardatio... more Polysomy 49,XXXXY is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects and genital abnormalities. We describe a patient with 49,XXXXY syndrome who had many characteristics of Fraccaro syndrome; language impairment, mongoloid slant, epicanthal folds, cryptorchidism, umbilical hernia and dysmyelinization in his brain. A GTG-banding technique was used for karyotype analysis of peripheral blood cell cultures. The parental origin of polysomy X was identified by using quantitative fluorescent polymerase chain reaction (QF-PCR) with seven short tandem repeat (STR) markers specific for the X/Y-chromosome which revealed that all the X-chromosomes were of maternal origin. This report provides evidence for successive non disjunctions in maternal meiosis I and II.
Genetic Testing and Molecular Biomarkers, 2009
To investigate parental origins and cell stage errors of a double nondisjunction in a fetus. For ... more To investigate parental origins and cell stage errors of a double nondisjunction in a fetus. For the determination of the most common chromosome anomalies, quantitative fluorescent polymerase chain reaction method using short tandem repeat (STR) DNA markers was applied to a fetus with abnormal ultrasonographic findings. Parental origin and cell stage errors of the trisomies were inferred by comparing the inherited STR alleles. Conventional cytogenetic technique was also applied for the confirmation of the aneuploidies. A double nondisjunction including chromosomes 21 and X (48,XXX,+21) was detected prenatally in the fetus. The origin of both chromosomes was maternal, and the errors were in meiosis I for 21 and meiosis II for X. Molecular results were concordant with cytogenetic results. Molecular techniques could be useful for the pre- and postnatal diagnosis of the common aneuploidies and determining its parental origin. This kind of study will improve knowledge about the mechanisms of nondisjunction and enable appropriate and rapid genetic counseling.
Cancer Biotherapy & Radiopharmaceuticals, 2008
The aim of this study was to evaluate the effects of lysozyme on the tumorigenicity of B-16V mela... more The aim of this study was to evaluate the effects of lysozyme on the tumorigenicity of B-16V melanoma cells. After performing a series of molecular biology applications, including mRNA isolation, reverse transcriptase polymerase chain reaction, restriction digestions and ligations, recombinant pHM6 vector harboring mouse lysozyme gene (pHM6mLys) was constructed. B-16V melanoma cells were transfected with plasmid DNAs (pHM6 and pHM6mLys). Transfected cells (B-16VpHM6 and B-16VpHM6mLys) were selected in media containing geneticin. B-16V, B-16VpHM6, and B-16VpHM6mLys cells were then injected subcutaneously (s.c.) to the three groups of C57BL/6 inbred mice (30 mice/group). These mice were examined every 3 days for s.c. tumor development over 41 days. The results were evaluated by using statistical methods. Tumor formation was observed in all mice injected with B-16V and B-16VpHM6 cells in the first 8-12 days. However, tumor didn't develop in 16 of 30 of the mice injected with B-16VpHMmLys cells. Tumor-free animals (16 mice) in this group were reinjected with B-16V cells, and 9 of them died during the first 10 days of observation. Tumor development was not observed in the remaining 7 mice over 60 days of the experimental period. Results were statistically significant (p values < or = 0.05). These findings indicate that lysozyme expressed by B-16VpHMmLys cells may suppress the tumorigenicity of these cells and may help development of protective immunity against B-16V melanoma cells.
Balkan Journal of Medical Genetics, 2000
Balkan Journal of Medical Genetics, 2000
Acta medica Okayama, 2007
The genetic background predisposing pregnant women to pre-eclampsia/eclampsia (PE/E) is still unk... more The genetic background predisposing pregnant women to pre-eclampsia/eclampsia (PE/E) is still unknown. The aim of the current study was to investigate whether there is an association between the TNF-alpha-308 and 850 polymorphisms and PE or eclampsia. In this study, 40 cases of eclampsia, 113 cases of PE and 80 normotensive control cases were genotyped for the TNF-alpha-G-308A and C-850 polymorphisms. At position 308, the replacement of Guanine with Adenosine was denoted as TNF2. We found a significant difference between the TNF2 allele frequencies of the eclamptic, pre-eclamptic and normotensive controls. TNF2 (AA) polymorphism frequency was significantly higher among the eclamptics and pre-eclamptics (control : 5%, PE : 13.3%, E : 12.9%). A significantly different genotype distribution of C-850T polymorphism was observed between the PE/E and control groups, with the frequency of the variant TT genotype being significantly reduced in the preeclamptics (PE : 17% ; E : 17.5%) when co...
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Papers by Ayfer Pazarbaşi