We analyzed all the exons and exon-intron junctions of the CYP2D6 gene from 286 Japanese individuals. We detected two novel single nucleotide polymorphisms (SNPs) 2556C>T in exon 5 (Thr261Ile) and 3835A>C in exon 8 (Lys404Gln). Both these SNPs showed a frequency of 0.002.

We present the draft genome sequence of Mycobacterium tuberculosis strain 43-16836, belonging to the Indo-Oceanic lineage, isolated from a tuberculous meningitis patient in Thailand. The genome is 4,381,942 bp long with 4,316 protein-coding genes and contains new single nucleotide polymorphisms (SNPs), including SNPs of genes that may encode cell wall components and possibly influence virulence.

We report the labelling of dideoxy nucleotides (ddNTPs) for use in electrochemical array based primer extension for the detection of single nucleotide polymorphisms (SNPs). The results confirm the extension of the immobilised primers for each of the four ddNTPs, representing a significant advance in achieving a cost-effective platform for screening of disease-specific SNPs.

purpose: neuromyelitis opitca (nmo) is an autoimmune disease that relates to deposition of anti-aquaporin-4 (aqp4) igg in the central nervous system (cns). however, called seronegative nmo when patients are negative for aqp4 antibody. nevertheless, nmo is most probably an antibody mediated disease. the aim of this study was to assess the association between seronegative nmo disease and variatio...

background: azoospermia is the medical condition of a man not having any measurable level of sperm in his semen. follicle stimulating hormone (fsh) is a member of the glycoprotein hormone family that plays an important role in human reproduction because of its essential role in normal spermatogenesis. various single nucleotide polymorphisms (snps) have been reported within fsh receptor (fshr) g...

Conserved single-nucleotide polymorphisms (SNPs) which characterize the allelic profile of the major epidemiological lineage ST-21 were identified from the alleles within the current Campylobacter jejuni multilocus sequence typing (MLST) database. Allelic discrimination assays were designed for the detection of SNPs, enabling rapid strain profiling for clonal complex ST-21. This method is suita...

SEAN is an application that predicts single nucleotide polymorphisms (SNPs) using multiple sequence alignments produced from expressed sequence tag (EST) clusters. The algorithm uses rules of sequence identity and SNP abundance to determine the quality of the prediction. A Java viewer is provided to display the EST alignments and predicted SNPs.

Forage feedstock is the greatest source of energy for livestock. Unfortunately, less than 50% their fiber content actually digested and assimilated by ruminant animals. This recalcitrance mainly due to high concentration plant cell wall material limited digestion microorganisms. A Genome-Wide Association Study (GWAS) was carried out in order identify Single Nucleotide Polymorphisms (SNPs) assoc...

background: multiple sclerosis (ms) is an autoimmune disease of the central nervous system (cns) caused by autoreactive t cells against myelin antigens. t-cell immunoglobulin mucin -3 (tim-3) is a negative regulator glycoprotein expressed by a range of immune cells, including, th1 cells, activated cd8+ t cells and in a lower level on th17 cells. a defect in tim-3 regulation has been shown in mu...