A case-control study of the association of miR-499A>G rs3746444 with risk of hepatocellular carcinoma (HCC)was conducted. Patients with HCC and healthy control subjects were recruited for genotyping of miR- 499A>G using duplex polymerase-chain-reaction with confronting-two-pair primer(PCR-RFLP) analysis. The MiR-499 GG genotype was associated with a decreased risk of HCC as compared with the mi...

Phenotyping and genotyping have been carried out on 64 epidemic and sporadic isolates of Shigella sonnei identified in Italy in the years 2001 to 2003. Class 2 integron carriage has been also investigated. Isolates from four of the five outbreaks and four of six sporadic cases were biotype g, pulsed-field gel electrophoresis type B, and class 2 integron positive, suggesting emergence and spread...

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excluding Brittany) was screened for 105 different mutations. This analysis resulted in the identification of 86% of the CF alleles and complete genotyping of 76% of the patients. The most frequent mutations in this population after delta F508 (69% of the CF chrom...

BACKGROUND Dombrock blood group system genotyping has revealed various rearrangements of the Dombrock gene and identified new variant alleles in Brazil (i.e., DO*A-SH, DO*A-WL and DO*B-WL). Because of the high heterogeneity of the Brazilian population, interregional differences are expected during the investigation of Dombrock genotypes. OBJECTIVE The present study aims to determine the frequ...

BACKGROUND Single nucleotide polymorphism (SNP) arrays are important tools widely used for genotyping and copy number estimation. This technology utilizes the specific affinity of fragmented DNA for binding to surface-attached oligonucleotide DNA probes. We analyze the variability of the probe signals of Affymetrix GeneChip SNP arrays as a function of the probe sequence to identify relevant seq...

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a recessively inherited defect in the mitochondrial beta-oxidation of fatty acids. A single nucleotide change, the A985 --> G transition, in the MCAD gene accounts for approximately 90% of all the disease-causing mutations in the patients. We have used PCR to amplify a segment of the human MCAD gene and typed the allelic sequence variatio...

background and aims: rubella virus is a human pathogen that causes congenital rubella syndrome (crs) when infection occurs during early pregnancy. vaccination programs have been remarkably successful in controlling natural rubella infection and crs. moreover, ongoing surveillance for all cases of rubella and crs is a vital component of a prevention program. although the who recommends the use o...

abstract snp typing is now a well-established genotyping system in bacillus anthracis studies. in the original standard method of van erth, snps at 13 loci of the b. anthracis genome were analyzed. in order to simplify and make appropriate this expensive method to low-budget laboratory settings, 13 primer pairs targeting the 13 corresponding snps were designed. besides, a universal pcr protocol...

Mutations affect the genes that encode certain cytochromes P450 (CYP450) isoenzymes are responsible for metabolism of drugs. The aim this study was to determine frequency CYP2B6 (516G>T) SNP in Burkinabè population. Genomic DNA extraction from blood performed by GenJET® according manufacturer’s instructions. Genotyping cytochrome variant alleles using predesigned primers. amplification carri...

BACKGROUND Lymphogranuloma venereum (LGV) proctitis is caused by Chlamydia trachomatis (Ct) genotype L and is endemic among men who have sex with men (MSM) in western society. Genotype L infections need to be distinguished from non-LGV (genotypes A-K) Ct infections since they require prolonged antibiotic treatment. For this purpose, an in-house developed pmpH based LGV polymerase chain reaction...