Here, we present a novel method for SNP genotyping based on protease-mediated allele-specific primer extension (PrASE), where the two allele-specific extension primers only differ in their 3'-positions. As reported previously [Ahmadian,A., Gharizadeh,B., O'Meara,D., Odeberg,J. and Lundeberg,J. (2001), Nucleic Acids Res., 29, e121], the kinetics of perfectly matched primer extension is faster th...

Background: ADIPOQ gene, which encode for Adiponectin (APN), is sited on chromosome 3q27 and linked to a susceptibility locus for metabolic syndrome (MetS). The ADIPOQ rs266729 G/C gene polymorphism is significantly associated with low APN levels and linked to susceptibility to develop cancer. In addition, decreased APN serum levels are linked with tumor development and progression and inversel...

OBJECTIVE To assess the association of the G54D (rs1800450) polymorphism of the gene MBL2 in the gestational diabetes mellitus with the need for additional treatment and the occurrence of large newborns for the gestational age. SUBJECTS AND METHODS One hundred and five patients recruited in Joinville--Brazil were evaluated between November 2010 and October 2012. Pregnant women were divided in...

OBJECTIVES The aim of this study was to clarify the role of interferon (IFN) gamma in the diagnosis and follow-up of atopic patients. We genotyped the IFN-gamma polymorphism at position +874 to examine the relationship between serum levels of IFN-gamma and disease severity and the role of IFN-gamma as a biochemical and immunologic marker. METHODS The study population comprised 75 patients suf...

This study aimed to investigate the relationship between the cholesterol ester transfer protein (CETP) gene TaqIB polymorphism and the lipid-lowering effect of atorvastatin in patients with coronary atherosclerotic heart disease. Two hundred eighty-eight patients were divided into a control group, an acute coronary syndrome (ACS) group, and a stable coronary heart disease (CHD) group. Blood bio...

OBJECTIVE Polymorphisms found in genes encoding adhesion molecules have been reported to be associated with atherosclerosis. We investigated the Ser128Arg polymorphism in the E-selectin gene in Japanese patients with myocardial infarction and its functional significance. METHODS AND RESULTS Results from 135 patients with myocardial infarction and 327 control subjects revealed that the frequen...

Efficient single nucleotide polymorphism (SNP) genotyping methods are necessary to accomplish many current gene discovery goals. A crucial element in large-scale SNP genotyping is the number of individual biochemical reactions that must be performed. An efficient method that can be used to simultaneously amplify a set of genetic loci across a genome with high reliability can provide a valuable ...

BACKGROUND AND OBJECTIVES To investigate coagulase gene polymorphism of MRSA and MSSA isolates from Shiraz teaching hospitals from 2011 to 2012. MATERIALS AND METHODS A total of 302 isolates of Staphylococcus aureus were collected from clinical specimens in three major teaching hospitals and confirmed on the basis of morphological characteristics and biochemical tests. The isolates were subje...

OBJECTIVE To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). DESIGN Case report. SETTING University medical center. PATIENT(S) Two Chinese siblings. INTERVENTION(S) Clinical evaluation, hormone assays, and gene mutation research. MAIN OUTCOME MEASURE(S) Endocrinologic evaluation and genetic anal...

More than 100 different mutations in Cu,Zn-superoxide dismutase (SOD1) are linked to a familial form of amyotrophic lateral sclerosis (fALS). Pathogenic mutations facilitate fibrillar aggregation of SOD1, upon which significant structural changes of SOD1 have been assumed; in general, however, a structure of protein aggregate remains obscure. Here, we have identified a protease-resistant core i...