abstract background von willebrand disease (vwd) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. the disease phenotype is due to quantitative and structural/functional defects in von willebrand factor (vwf) which is a glycoprotein with essential role as a carrier of fviii in circulation and also it serves the function as hemostasis regulator....

Objective: The aim of this study was to explore if the single nucleotide polymorphism (SNP) IL-6 related susceptibility, severity neurological deficit and recurrence risk cerebral infarction (CI). Methods: Three hundred eighty-two patients with CI 385 healthy controls were selected for gene promotor region-174G /C, -572C/G, -597G/A by SNaPshot SNP typing. National Institute Health Stroke Scale ...

In this chapter, we focus on statistical questions raised by the identification of copy number alterations in tumor samples using genotyping microarrays, also known as Single Nucleotide Polymorphism (SNP) arrays. We define the copy number states formally, and show how they are assessed by SNP arrays. We identify and discuss general and cancer-specific challenges for SNP array data preprocessing...

Aldose reductase gene polymorphisms has been indicated to be associated with diabetic retinopathy (DR). The research data were from PubMed and EMBASE. We identified -106C > T single nucleotide polymorphism (SNP). Pool odds ratio (OR) 95% CI calculated. Nine studies included. ALR2 106C was the increased risk of DR in T1DM (C vs. T, OR = 2.07, p 0.001; CC CT + TT, 2.56, 0.005). allele TT genot...

Hemophilia A is an X-linked recessive bleeding disorder caused by defects in factor VIII gene (F8). Our study examines variations of single nucleotide polymorphism (SNP) in F8 in the Indian population and establishes the utility of a combination of SNP and microsatellite markers for the successful identification of carriers in the affected families.

Drug resistance in Plasmodium falciparum parasites is associated with the single nucleotide polymorphism (SNP) exo-E415G, which considered as a marker to reduce susceptibility artimisinin and leads treatment failure. This study aims establish procedure based on tetra-primer ARMS PCR technique detect SNP exo-E415G malaria patients who experienced failure artemisinin. DNA sample from P. 3D7 isola...

We identified single nucleotide polymorphism (SNP) markers in the laccase gene to establish a line-diagnostic system for shiitake mushrooms. A total of 89 fungal isolates representing four lines, including Korean registered, Korean wild type, Chinese, and Japanese lines, were analyzed. The results suggest that SNP markers in the laccase gene can be useful for line typing in shiitake mushrooms.

Despite the great potential of single nucleotide polymorphism (SNP) markers in evolutionary studies, in particular for inferring population genetic parameters, SNP analysis has almost exclusively been limited to humans and 'genomic model' organisms, due to the lack of available sequence data in non-model organisms. Here, we describe a rapid and cost effective method to isolate candidate SNPs in...

Single-nucleotide polymorphism (SNP) markers have great potential to identify individuals, family relations, biogeographical ancestry, and phenotypic traits. In many forensic situations, DNA mixtures of a victim an unknown suspect exist. Extracting SNP profiles from suspect’s samples can be used assist investigation or gather intelligence. Computational tools determine inclusion/exclusion known...