objective(s):organic anion transporter polypeptide 1b1 (oatp1b1) encoded by solute carrier organic transporter 1b1 (slco1b1) gene; a transporter involved in the uptake of drugs and endogenous compounds is present in hepatocyte sinusoidal membrane. aim of this study was to investigate the frequencies of functionally significant snps (388a>g and 521t>c) and their haplotypes in 6 ethnic groups of ...

background: it has been demonstrated that insulin signaling pathway related genes have important roles in polycystic ovary syndrome (pcos) risk. the goal of present investigation was to assess the potential association between insr/nsii (rs2059806) and insr/pmli (rs1799817) snps and pcos. methods: 50 women with pcos and 47 normal controls entered the study. nsii and pmli snps in the insr gene w...

Our study investigated the association of rare allelic variants with extremes of 24-hour urinary calcium excretion because higher urinary calcium excretion is a dominant risk factor for calcium-based kidney stone formation. We resequenced 40 candidate genes potentially related to urinary calcium excretion in individuals from the Nurses' Health Studies I & II and the Health Professionals Follow-...

AIM To determine the prevalence of most common mutations of cytochrome P450 (CYP), ie, allelic variants of CYP2C9, CYP2C19, and CYP2D6, and to predict genotype frequency in the Croatian population. METHODS CYP genotype was determined in 200 non-related Croatian citizens. DNA isolated from blood samples was used for the analysis of the most common allelic variants of CYP2C9, CYP2C19, and CYP2D...

A complete understanding of the mode of evolution of molecular markers is important for making inferences about different population genetic parameters, especially because a number of studies have reported patterns of allelic variation at molecular markers that are not in agreement with neutral evolutionary expectations. In the present study, house mice (Mus domesticus) from the fourteenth gene...

PURPOSE We hypothesize that somatic mutations accumulate in cells of the human lens and may contribute to the development of cortical or posterior sub-capsular cataracts. Here, we used a Next-generation sequencing (NGS) strategy to screen for low-allelic frequency variants in DNA extracted from human lens epithelial samples. METHODS Next-Generation sequencing of 151 cancer-related genes (WUCa...

Objective(s):Organic anion transporter polypeptide 1B1 (OATP1B1) encoded by solute carrier organic transporter 1B1 (SLCO1B1) gene; a transporter involved in the uptake of drugs and endogenous compounds is present in hepatocyte sinusoidal membrane. Aim of this study was to investigate the frequencies of functionally significant SNPs (388A>G and 521T>C) and their haplotypes in 6 ethnic groups of ...

Genotypes for melatonin receptor type 1A (MTNR1A) and Calpastatin (CAST) were determined by enzymatic digestion of PCR products and Calpain(CAPN) genotype detected by PCR-SSCP method in Iranian Karakul sheep. Blood samples were collected from 100 purebred Karakul sheep. The extraction of genomic DNA was based on guanidinium thiocyanate- silica gel method. PCR amplicons were digested with restri...

Sexually antagonistic (SA) selection, a form of selection that can occur when both sexes have different fitness optima for a trait, is a major force shaping the evolution of organisms. A seminal model developed by Rice (Rice WR. 1984. Sex chromosomes and the evolution of sexual dimorphism. Evolution 38:735-742.) predicts that the X chromosome should be a hotspot for the accumulation of loci und...