The growing availability of inexpensive high-throughput sequence data is enabling researchers to sequence tumor populations within a single individual at high coverage. But, cancer genome sequence evolution and mutational phenomena like driver mutations and gene fusions are difficult to investigate without first reconstructing tumor haplotype sequences. Haplotype assembly of single individual t...

BACKGROUND AND AIMS Genetic variation in the chromosome 5q31 cytokine cluster (IBD5 risk haplotype) has been associated with Crohn's disease (CD) in a Canadian population. We studied the IBD5 risk haplotype in both British and Japanese cohorts. Disease associations have also been reported for CARD15/NOD2 and TNF variants. Complex interactions between susceptibility loci have been shown in anima...

In the present study, mitochondrial DNA polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used to assess the population structure and genetic relationships among six Persian sturgeon, Acipenser persicus populations from south Caspian Sea along the Iranian coast. The complete nucleotide dehydrogenase subunit 5 (NADH 5) region of mtDNA amplified by PCR was di...

background: heterogeneous mutations in the human coagulation factor ix gene lead to an x-linked recessive bleeding disorder known as hemophilia b. the disease is distributed worldwide with no ethnic or geographical priority. materials and methods: the aim of this study was to characterize the factor ix gene mutations in 28 unrelated iranian hemophilia b patients. polymerase chain reaction (pcr)...

The majority of killer cell immunoglobin-like receptor (KIR) genes are detected as either present or absent using locus-specific genotyping technology. Ambiguity arises from the presence of a specific KIR gene since the exact copy number (one or two) of that gene is unknown. Therefore, haplotype inference for these genes is becoming more challenging due to such large portion of missing informat...

• Lynx bones were found at Castellum Albaniana in the Netherlands. Q-PCR and sequencing identified lynx mitochondrial DNA sequences. haplotype was not identical to ancient remains matched with a Southern European haplotype. In 2001 2002 an excavation conducted town of Alphen aan den Rijn Netherlands revealed vestiges Roman fort, , situated along historical Rhine delta used for centuries during ...

background: β-thalassemia as a hereditary disease is defined as defective synthesis of   β-globin chains, resulting in erythropoiesis abnormalities and severe anemia. different studies have shown that cytokines and cytokine gene polymorphisms play a major role in the pathogenesis of   β-thalassemia. single nucleotide polymorphisms (snps) within the promoter region or other regulatory sequences ...