the gene coding claudin (cldn5) is located on 22q11. since the proteins of cldn5 family are a ma-jor component for barrier-forming tight junctions, it may be important to test whether or not the cldn5 locus could be associated with schizophrenia.a total of 150 individuals affected with schizophrenia and 150 healthy persons were recruited. the relation-ship between the three single nucleotide po...

The Alzheimer's disease (AD) aetiologic event is associated with brain inflammatory processes. In this study, we consider a haplotype of the IL-10 gene promoter region, - 1082A/- 819 T/- 592A (ATA haplotype), which is an additive and independent genetic risk factor for AD. Episodic memory change is the most striking cognitive alteration in AD. It remains unclear whether episodic memory networks...

BACKGROUND The dopamine transporter gene (DAT1) and visual memory deficits have been consistently reported to be associated with attention-deficit/hyperactivity disorder (ADHD). This study aimed to examine whether a DAT1 haplotype affected functional and structural brain alterations in children with ADHD and whether those alterations were associated with visual memory. METHOD We recruited a t...

Identifying phase information is biomedically important due to the association of complex haplotype effects, such as compound heterozygosity, with disease. As recent next-generation sequencing (NGS) technologies provide more read sequences, the use of diverse sequencing datasets for haplotype phasing is now possible, allowing haplotype reconstruction of a single sequenced individual using NGS d...

A Single Nucleotide Polymorphism or SNP is a DNA sequence variation occurring when a single nucleotide in the genome differs between members of species. Recent research reveals that SNPs within certain haplotype blocks induce only a few distinct common haplotypes in the majority of the population. The existence of haplotype block structures has serious implications for association-based methods...

Estimating appropriate sample sizes to measure species abundance and richness is a fundamental problem for most biodiversity research. In this study, we explore a method to measure sampling sufficiency based on haplotype diversity in the ray-finned fishes (Animalia: Chordata: Actinopterygii). To do this, we use linear regression and hypothesis testing methods on haplotype accumulation curves fr...

Data from current gene-disease association studies motivate changes to existing haplotype inference methodologies. Many datasets are now comprised of both pedigree and population data so it is desirable to incorporate both sources of information when inferring haplotypes. The availability of high-density SNP data also makes it possible to determine and use the precise locations of recombination...

The genome-wide association study (GWAS) has become a routine approach for mapping disease risk loci with the advent of large-scale genotyping technologies. Multi-allelic haplotype markers can provide superior power compared with single-SNP markers in mapping disease loci. However, the application of haplotype-based analysis to GWAS is usually bottlenecked by prohibitive time cost for haplotype...

BACKGROUND Prognostic risk stratification according to acquired or inherited genetic alterations has received increasing attention in acute myeloid leukemia in recent years. A germline Janus kinase 2 haplotype designated as the 46/1 haplotype has been reported to be associated with an inherited predisposition to myeloproliferative neoplasms, and also to acute myeloid leukemia with normal karyot...

Single nucleotide polymorphisms (SNP) in the TLR5 gene have been associated with human inflammatory bowel disease (IBD) and animal models of this disease. We recently demonstrated a significant association between three non-synonymous SNPs in the canine TLR5 gene and IBD in German shepherd dogs (GSDs). However, so far, no direct link between these SNPs and a disturbance in TLR5 function was sho...