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).
Yazan: admin Tarih: Şub 25th, 2010 | Kategori::
Multiple sclerosis
Akcali A, Pehlivan S, Pehlivan M, Sever T, Akgul P, Neyal M.
Department of Neurology, Gaziantep University School of Medicine, Gaziantep, Turkey.
Summary Dysregulation in the expression of pro- and anti-inflammatory cytokines is one of the milestones in multiple sclerosis (MS) development and progression. Tumour necrosis factor (TNF-alpha), a proinflammatory cytokine is believed to play an important role in MS pathogenesis. The objective of this study is to investigate the association between TNF-alpha promoter region (TNF-alpha-238, -308 and -857) and susceptibility to MS and clinical course of the disease. Eighty-six relapsing remitting MS patients and 150 sex-, age- and ethnic-matched controls were enrolled in the study. Genotyping was performed by PCR-RFLP method. We observed a statistically significant increase in TNF-alpha 857 CC genotype in MS patients than controls (P < 0.001) while TNF-alpha 857 CT genotype showed a significant negative correlation with MS patients (P = 0.033). No differences in the distribution of the TNF-alpha-238 and -308 alleles were observed. None of the three polymorphisms (-238, -308 and -857) did not show relation with disease duration, Expanded Disability Status Scale or age of onset. On the other hand, significant difference of TNF -857 CC genotype was identified with the low disease index (P = 0.025). Although the study group is small, the results indicate that TNF-alpha 857 CC genotype may cause susceptibility to MS in the Turkish population.
Yazan: admin Tarih: Şub 25th, 2010 | Kategori::
Chronic periodontitis
Arch Oral Biol. 2010 Feb 2.
Ozçaka O, Bıçakcı N, Nalbantsoy A, Köse T, Berdeli A.
Department of Periodontology, School of Dentistry, University of Ege, Izmir, Turkey.
BACKGROUND: The aims of the present study were: (1) to investigate mannose-binding lectin (MBL) gene exon-1 polymorphisms in Turkish subjects with chronic periodontitis (CP), (2) to assess the association between these polymorphisms and plasma MBL levels, (3) to determine the effects of MBL genotypes on the outcomes of non-surgical periodontal therapy. METHODS: A total of 172 subjects were included in the present study. Genomic DNA was obtained from the peripheral blood of 83 CP patients and 89 periodontally healthy subjects. The MBL levels were measured by enzyme-linked immunosorbent assay (ELISA). The MBL gene exon-1 polymorphisms were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: Subjects homozygous for the frequent allele A had higher MBL plasma levels compared with rare allele B carriers. This difference in MBL plasma levels was statistically significant both in CP patients and healthy subjects. The distribution of MBL gene codon 54 genotypes and allele frequencies did not differ significantly between study groups. All study subjects were the MBL gene codon 52 and 57 frequent allele A carriers. Codon 54 B allele carriers had similar clinical periodontal parameters compared with AA genotypes after non-surgical periodontal therapy. CONCLUSIONS: The present study failed to find any significant association between the MBL gene codon 54 polymorphisms and severe CP in a Turkish population. MBL gene rare allele carriers had lower MBL plasma levels in both study groups. It seems that MBL gene codon 54 B allele carriage may not influence the outcome of periodontal therapy. Copyright © 2010. Published by Elsevier Ltd.
Yazan: admin Tarih: Şub 5th, 2010 | Kategori::
Gene polymorphisms
Biochem Genet. 2010 Feb;48(1-2):104-12.
Senol Tuncay S, Okyay P, Bardakci F.
Department of Biology, Faculty of Arts and Sciences, Adnan Menderes University, Aydin, Turkey.
A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used in a Turkish population to determine the frequency of polymorphisms of the nuclear factor-kappa (NF-kappaB1) and NF-kappaBIA genes, which have been shown to be related to several inflammatory diseases and cancer pathogenesis. Total genomic DNA was isolated from peripheral blood samples taken from 565 healthy volunteers living in Aydin Province. The genomic regions in question were amplified by PCR, and the polymorphisms in these regions were detected by a PCR-RFLP assay. The frequencies were 10.3% for the NF-kappaB1 -94ins/delATTG del/del genotype, 49.1% for del/ins, and 40.6% for ins/ins. The genotype frequencies of the NF-kappaBIA 3′UTR A –> G genotypes were A/A 19.2%, A/G 42.3%, and G/G 38.5%. Distribution of genotype frequencies was tested by Hardy-Weinberg; the NF-kappaB1 gene was in Hardy-Weinberg equilibrium (chi(2) = 3.402, P > 0.05), the NF-kappaBIA gene was not (chi(2) = 8.293, P < 0.05).
