Valproic acid (VPA) is one of the most commonly used anti-epileptic drugs in epilepsy patients. The large interindividual variability in plasma VPA concentration may reflect functional consequence of genetic polymorphisms in genes encoding drug-metabolizing enzymes, especially uridine 5’-diphospho (UDP)-glucuronosyltransferase (UGT). This study was aimed to determine the relationship between pl...

Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...

The performance of the Global Navigation Satellite System (GNSS) compass is related to the quality of carrier phase measurement. How to process the carrier phase error properly is important to improve the GNSS compass accuracy. In this work, we propose a dual frequency carrier phase error difference checking algorithm for the GNSS compass. The algorithm aims at eliminating large carrier phase e...

Intragenic RFLP analysis was used to provide carrier risk estimations on 100 possible female carriers from 22 Duchenne muscular dystrophy families. This enabled 78% of possible carriers to be assigned high or low risks (greater than 90% or less than 10%) as opposed to 26% assigned low risk on pedigree data alone. When a single polymorphism is not informative the use of haplotype analysis for ca...

Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder with no clinical or immunologic abnormalities in carrier famales. The defective gene has been localized to proximal Xp. Carrier females have nonrandom use of the X chromosome in granulocytes, lymphocytes, and monocytes. We have used the probe M27p. which detects both a variable number tandem repeat polymorphism and methylat...

In a recent genome-wide association study, the SLC26A4 gene rs2072064 polymorphism was found to be associated with late-onset Alzheimer's disease in Caucasians. Here, we investigated this association in a large Northern Han Chinese cohort consisting of 599 sporadic late-onset Alzheimer's disease patients and 598 healthy controls matched for sex and age in a Northern Han Chinese population from ...

Source and Description: Direct genomic sequencing revealed a C to A polymorphism 65 nucleotides in front of exon 19 (nucleotide 3601-65) of the CFTR gene that is causative defective in cystic fibrosis (CF) (1). This polymorphism generates cleavage sites for Hinfl and MboII and is useful as an intragenic marker for the assignment of marker haplotypes of known CF mutations and for carrier screeni...

recently, inflammation has been found to be a significant factor in the development of schizophrenia (scz). the aim of the present research was to investigate whether interleukin-33 (il-33, omim: 608678) gene polymorphism (rs11792633, c/t) is associated with the development of scz or not.dna was isolated from the serum of 70 patients with scz and 70 healthy controls. the pcr based method was us...