background: the hbv-x (hbx) protein is believed to contribute to the development of hcc. however, the molecular mechanisms involved in hbx-mediated hepatocarcinogenesis remain obscure. in this study, the effect of hepatitis b virus x gene and its protein product hbxag on expression of p53 gene in hep g2 cell line was investigated. methods: viral dna extracted from hbv-positive serum and hbx gen...

Amelogenin gene (AMEL-X) encodes an enamel protein called amelogenin, which plays a vital role in tooth development. Any mutations in this gene or the associated pathway lead to developmental abnormalities of the tooth. The present study aims to analyze functional missense mutations in AMEL-X genes and derive an association with amelogenesis imperfecta. The information on miss...

purpose: retinitis pigmentosa (rp) is a hereditary eye disease in human beings. it commences at childhood and continues by nyctalopia and gradual reduction of visual field and ends up by blindness. it may be inherited in three forms of autosomal dominant, autosomal recessive and sex-linked. in this investigation we intend to study rp type as a sex-linked disease and its location on x chromosome...

in this study, we report a mutation in cybb gene in a patient with x-cgd (diagnosed on the base of family history, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed...

abstract       background and objective: hepatitis b virus (hbv) is a dna virus with high tendency toward hepatic tissue. there are currently about 3 million hbv-infected people and 350 to 400 million chronic carriers of this virus in the world. x protein plays a role in the over-expression of oncogenes, carcinogenicity of liver cells and overlaps with the basal core promoter of the virus. muta...

objective(s):to determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. materials and methods: after collection of 100 chorionic villi samples, the dnas were extracted and baby gender was determined. meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. results...

x-chromosome inactivation (xci) is a process by which one of the copies of the x chromosome in mammalian female cells is inactivated. the xci causes a balanced x-linked gene quantity between male and females; moreover, it results mosaic females which have paternal active x in some cells and maternal active x in others. cellular mosaicism is a noteworthy phenomenon and lowers the risk of x-linke...

background: x-ray repair cross-complementing group 1 (xrcc1) gene is a dna repair gene and its non-synonymous single nucleotide polymorphisms (snp) may influence dna repair capacity which has been considered as a modifying risk factor for cancer development. methods: a case-control study was conducted to investigate impact of three frequently studied polymorphisms (arg194trp, arg280his and arg3...