background: the haplotype phasing is more useful than genotyping markers independently at carrier detection and prena­tal diagnosis of diseases. the pah gene region contains several markers used in detection of pku disease. in the present study, the efficiency of bgl ii- ecor i-vntr haplotype phasing in iranian family trios was investigated. then, this informa­tion was compared with those obtai...

Background: Sickle cell anemia is relatively common in Khuzestan province located in Southwest Iran. The characteristics of sickle cell disease in Iran are apparently different from other regions some of these characteristics might be related to β-chain haplotypes. The purpose of this study was to determine the frequency of β-chain haplotypes in 50 patients with homozygous sickle cell anemia in...

Several tests of neutral evolution employ the observed number of segregating sites and properties of the haplotype frequency distribution as summary statistics and use simulations to obtain rejection probabilities. Here we develop a "haplotype configuration test" of neutrality (HCT) based on the full haplotype frequency distribution. To enable exact computation of rejection probabilities for sm...

SUMMARY We implement a program that incorporates polymorphic sites data, haplotype frequency arrays, and other factors, into cladogram estimation.

Linkage disequilibrium (LD) between tightly linked loci provides fine mapping information of disease-predisposing allelic variants. The most common method of LD analysis involves unrelated cases and controls. We have previously proposed model-free and permutation tests for diseases with unknown mode of inheritance that can be applied to several highly polymorphic loci. However, performing such ...

BACKGROUND Haplotype analysis of closely associated markers has proven to be a powerful tool in kinship analysis, especially when short tandem repeats (STR) fail to resolve uncertainty in relationship analysis. STR located on the X chromosome show stronger linkage disequilibrium compared with autosomal STR. So, it is necessary to estimate the haplotype frequencies directly from population studi...

The killer cell immunoglobulin-like receptors (KIR) mediate human natural killer (NK) cell cytotoxicity via activating or inhibiting signals. Although informative and functional haplotype patterns have been reported, most genotyping has been performed at resolutions that are structurally ambiguous. In order to leverage structural information given low-resolution genotypes, we performed experime...

AKT-glycogen synthase kinase 3beta (GSK3beta) signaling is a target of lithium and has been implicated in the pathogenesis of mood disorders and schizophrenia. AKT1 protein level is decreased in the peripheral lymphocytes and brains of schizophrenic patients. The SNP2/3/4 TCG haplotype of AKT1 was associated with schizophrenia in patients with Northern European origin. In the present study, we ...

A variety of forensic, population, and disease studies are based on haploid DNA (e.g. mitochondrial DNA or Y-chromosome data). For any set of genetic markers databases of conventional size will normally contain only a fraction of all haplotypes. For several applications, reliable estimates of haplotype frequencies, the total number of haplotypes and coverage of the database (the probability tha...

We analyzed killer cell immunoglobulin-like receptor (KIR) gene polymorphisms and genotype and haplotype characteristics in the Uygur population, a non-nomadic ethnic group found in Xinjiang, China, to provide a basis for studies on relationships between KIRs and diseases in this group. Sequence-specific primer PCR was used to detect the KIR gene in 84 Uygur individuals. A standard genotype and...