Aromatase P450 (P450arom), a product of the CYP19 gene, catalyzes the conversion of C19-steroids to estrogens. Human P450arom is expressed in placental syncytiotrophoblast, ovarian granulosa cells, and adipose stromal cells by use of tissue-specific promoters that are located 5' of unique untranslated first exons. Mononuclear cytotrophoblasts isolated from midterm human placenta spontaneously f...

the polymorphism in exon three of fabp4 gene and its association with growth traits of 45 sistani (n=30) and dashtiari (n=15) cattle were investigated. dna extraction from the whole blood was performed and its quality was determined by electrophoresis of one percent agarose gel. animal genotypes were determined based on polymerase chain reaction (pcr) products and their band size electrophorese...

The GH gene and BMP15 gene have been used as candidate genes for ­marker-assisted selection in different livestock species. Random blood samples were obtained from 180 Zel sheep breed to study genetic polymorphism of these genes. DNA was extracted from blood samples and a 365 bp fragment from the exon V of the ovine growth hormone gene and a 312 bp region from exon II of BMP15 gene were amplifi...

Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...

Neuronal plasticity induced by changes in synaptic morphology and function is well known to play a pivotal role in leaning and memory as well as adaptation to stress. It is suggested that these plastic changes are due to orchestration of alterations in gene expression in the brain. Recent advances in molecular biology have provided evidence that epigenetic mechanisms, such as DNA methylation an...

Background and Aims: One of the most important genes involved in Alzheimer's disease (AD) is the presenilin2 (PSEN2) gene, which is one of the main constituents of the gamma-secretase complex. Mutations in this gene promote the formation of amyloid plaques resulting in AD. The study aimed to evaluate the mutation variant in exon 6 of the PSEN2 gene in patients with Late-Onset AD (LOAD). Due to ...

We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c...