ABSTRACT
Eight Y-chromosome specific STR (Y-STR) loci including DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393 were investigated in a group of males from Central Anatolian Region of Turkey. Healthy 59 males living in this region for at least three generations were included in the study. PCR analysis was carried out with Y-STR specific primers on genomic DNA obtained from peripheral blood samples and size determination of PCR products was performed by silver staining following 6% polyacrylamide gel electrophoresis (PAGE). DYS388 was found to be the locus with lowest diversity (D) whereas DYS389II was the locus with highest diversity. The current study presented a framework of variation for the eight Y-STR loci in Central Anatolian population.
Subject(s)
Chromosomes, Human, Y , Genetics, Population , Polymorphism, Genetic , Tandem Repeat Sequences , DNA Fingerprinting/methods , Gene Frequency , Humans , Male , TurkeyABSTRACT
Behçet's disease (BD) is a chronic multisystem disorder. Infectious agents, immune system mechanisms, and genetic factors are implicated in the etiopathogenesis of BD, which remains to be explained. The human MDR1 (ABCB1) gene encoder P-glycoprotein (P-gp) plays a key role in drug disposition, serves as a protective mechanism against xenobiotics, and provides additional protection for the brain, testis, and fetus. We investigated the genotype and haplotype distributions of three MDR1 gene polymorphisms (C1236T, G2677T/A, and C3435T) in 104 BD patients and 130 control subjects. The genotyping analysis was performed by using PCR-RFLP methods. No statistically significant differences were found for the genotypic and allelic distributions of three individual single nucleotide polymorphisms (SNPs) in the MDR1 gene between BD patients and control subjects in this study (p>0.05). However, combined genotype and haplotype frequencies have found statistically significant differences between BD and control subjects for some combinations (p<0.05). The CC-GG binary genotype for C1236T-G2677T/A loci couple in particular may have a high degree of predisposition to BD (p=0.009; OR, 3.03; 95% CI, 1.41-6.54). Furthermore, significant differences between colchicine-responsive and -nonresponsive groups were found. Genotypic and allelic distributions of C3435T and G2677T/A loci, as well as their genotype and haplotype combinations, were found to have statistically significant differences (p<0.05). The TT genotype for the C3435T locus (p=0.001; OR, 6.59; 95% CI, 1.86-23.30) and T allele (p=0.009; OR, 2.09; 95% CI, 1.18-3.70) plays a substantial role in the colchicine response. Our study showed that MDR1 genes and their polymorphisms may affect a patient's BD susceptibility and colchicine response.
Subject(s)
ATP Binding Cassette Transporter, Subfamily B, Member 1/genetics , Behcet Syndrome/drug therapy , Behcet Syndrome/genetics , Colchicine/therapeutic use , Polymorphism, Genetic , Tubulin Modulators/therapeutic use , ATP Binding Cassette Transporter, Subfamily B , Adult , Colchicum , Female , Genetic Predisposition to Disease , Haplotypes , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide , Treatment OutcomeABSTRACT
BACKGROUND AND AIMS: Multiple genetic alterations are responsible for development and progression of gastric cancer which is one of the leading causes of cancer-related deaths worldwide. The aim of this study was to identify the genomic imbalances of gains and/or losses in gastric adenocarcinomas from Turkish patients and to investigate their association with development and progression of this type of cancer. METHODS: Forty three patients with gastric adenocarcinoma were enrolled in this study and genomic imbalances were analyzed by high-resolution-comparative genomic hybridization (HR-CGH). RESULTS: In 36/43 cases (84%) of gastric adenocarcinomas, genomic imbalances have involved all chromosomes in various combinations. The mean number of gains was 3.95+/-4.19 and the most common gains observed were 7q (35%), 8q (35%), 7p (28%), 1q (26%), 13q (26%), and 20q (21%). The calculated mean number of losses was 3.65+/-3.55 and the most common losses were found on arms 18q (26%), 5q (21%), and 14q (21%). High-level amplifications involved chromosomes 1, 7, 8, 9, 13, and 16. No significant differences in chromosomal imbalances were observed in different tumor stages, tumor grades, and Helicobacter pylori infection status groups. The most striking result in this study was the involvement of the 13q gains with increased lymph node metastasis (p=0.046). Late-stage tumors displayed a somewhat significantly higher number of losses than early-stage tumors (p=0.053). CONCLUSIONS: A series of gains, losses and amplifications concerned with gastric adenocarcinoma identified in this study are presented in detail. In particular, 13q21-q32 was prominent because it has been linked to increased lymph node metastasis.
Subject(s)
Adenocarcinoma/genetics , Comparative Genomic Hybridization/methods , DNA Copy Number Variations , Stomach Neoplasms/genetics , Adenocarcinoma/epidemiology , Adenocarcinoma/pathology , Adult , Aged , Disease Progression , Female , Humans , Male , Middle Aged , Stomach Neoplasms/epidemiology , Stomach Neoplasms/pathology , Turkey/epidemiologyABSTRACT
VNTR loci are useful as genetic markers in population genetics, forensics, and chimerism detection because of their high level of variability. In this study we present frequency information for two polymorphic VNTR loci, namely, D17S30 and TP53, which we examined in 100 healthy individuals from a Turkish population.