Yazan: admin Tarih: Oca 25th, 2011 | Kategori::
SULT1A1,
SULT1A2,
Sulfotransferases
Biochem Genet. 2010 Dec;48(11-12):987-94. Epub 2010 Oct 10.
Arslan S.
Department of Molecular Biology and Genetics, Cumhuriyet University, Sivas, Turkey. arserdal@yahoo.com
Abstract
Sulfotransferases (SULTs) play a significant role in the biotransformation of a variety of xenobiotics and endogenous compounds. SULTs are genetically polymorphic enzymes; to date, 12 human cytosolic SULT isoforms have been identified. This study investigated SULT1A1 and SULT1A2 gene polymorphism using a PCR-RFLP method (n = 303). The frequency of the SULT1A1*1 allele was 76.2% and SULT1A1*2 was 23.8%. The SULT1A1*3 allele could not be identified. The SULT1A2 frequencies were 69.2% (SULT1A2*1), 18.3% (SULT1A2*2), and 12.5% (SULT1A2*3). The SULT1A1 and SULT1A2 loci were in Hardy-Weinberg equilibrium (SULT1A1 χ² = 0.58, P = 0.44; SULT1A2 χ² = 7.28, P = 0.06). Linkage analysis indicated a close linkage between these two genes (χ² = 5.31, P < 0.01); therefore, the statistical hypothesis that SULT1A1 and SULT1A2 alleles are independently distributed was rejected. Additionally, a strongly positive linkage was detected between SULT1A1*2 and SULT1A2*2 alleles in this population (D’ = 0.79, χ² = 33.33).
Cancer Genet Cytogenet. 2010 Dec;203(2):230-7.
Manguoğlu E, Güran S, Yamaç D, Colak T, Simşek M, Baykara M, Akaydın M, Lüleci G.
Faculty of Medicine, Department of Medical Biology and Genetics, Akdeniz University, Antalya 07070, Turkey. emanguoglu@akdeniz.edu.tr
Abstract
Distribution and prevalence of germline mutations in BRCA1 and BRCA2 differ among different populations. For the Turkish population, several studies have addressed high-risk breast cancer and ovarian cancer (BC-OC) patients. In most studies, both genes were analyzed in part, and a quite heterogeneous mutation spectrum was observed. For high-risk Turkish prostate cancer (PCa) patients, however, there are no data available about mutations of germline BRCA genes. To accurately determine the contribution of germline mutations in BRCA1 and BRCA2 in Turkish BC, OC, and PCa high-risk patients, 106 high-risk BC-OC patients, 50 high-risk PCa patients, and 50 control subjects were recruited. The study represents the only full screening, to date, of a large series of Turkish high-risk BC-OC patients and the only study in Turkish high-risk PCa patients. Mutation screenings were performed on coding exons of both genes with either denaturing gradient gel electrophoresis or denaturing high performance liquid chromatography, or with both techniques. Three deleterious mutations in BRCA1 and three deleterious mutations in BRCA2 were detected in different BC-OC patients, and one truncating mutation was detected in a high-risk PCa patient. In addition, 28 different unclassified and mostly novel variants were detected in both genes, as well as several silent polymorphisms. These findings reflect the genetic heterogeneity of the Turkish population and are relevant to genetic counseling and clinical management.
Yazan: admin Tarih: Oca 25th, 2011 | Kategori::
E-cadherin,
nephrolithiasis
Mol Biol Rep. 2010 Dec 14.
Yilmaz A, Menevse S, Onaran M, Sen I, Ergun MA, Camtosun A, Kupeli B, Bozkirli I.
Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, Ankara, 06500, Turkey.
Abstract
Nephrolithiasis is a complex disease and many gene polymorphisms have been associated with stone formation. In this study we aimed to investigate another possible relationship between E-cadherin gene (CHD1) 3′-UTR C/T polymorphism and calcium oxalate nephrolithiasis in the Turkish population. Study population was composed of 143 patients with nephrolithiasis and 158 control subjects. CHD1 3′-UTR C/T polymorphism was analysed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique. Genotype distribution of the investigated polymorphism was not deviated from Hardy-Weinberg equilibrium (HWE) in patients and control subjects (P > 0.05). C allele frequency was 85.7 and 85.1% in patients and controls, respectively (P = 0.836). Genotype distributions of the CHD1 3′-UTR C/T polymorphism among patients were also not significantly different from those among control subjects (P = 0.636). Our results showed that there is no association between the CHD1 gene 3′-UTR C/T polymorphism and nephrolithiasis in our population.
Yazan: admin Tarih: Tem 23rd, 2010 | Kategori::
Gene polymorphisms
Cell Biochem Funct. 2010 Jun;28(4):274-7.
Büyük U, Ates O, Dalyan L, Müsellim B, Ongen G, Topal-Sarikaya A.
Department of Molecular Biology and Genetics, Istanbul University, Turkey. atopal@istanbul.edu.tr
Abstract
Systemic sclerosis (SSc) is an autoimmune disease characterized by inflammation and fibrosis of the skin and visceral organs. Fibrosis associated with SSc is characterized by an increased synthesis of a wide range of extracellular matrix (ECM). TGF-beta is a pluripotent cytokine in a wide range of cell types. In particular it has been found to be a potent inducer of ECM protein synthesis and fibroblast migration. The TGF-beta1 gene is highly polymorphic and two signal sequence polymorphisms at codon 10 and codon 25 are linked to disease outcomes. In this study, we analysed two polymorphic sites of the TGF-beta1 gene, codon 10 and codon 25, in 43 Turkish SSc female patients with interstitial lung involvement and in 75 healty individuals by ARMS-PCR. In our study no significant difference was found in codon 10, codon 25 genotype frequencies between patient with SSc and the control group (p = 0.676, 0.375, respectively). Our findings suggest that codon 10 and 25 polymorphism cannot be related with SSc for Turkish population. 2010 John Wiley & Sons, Ltd.
