background: oculocutaneous albinism type1 (oca1) is characterized by the absence of melanin pigmentation. the muta­tion on tyr gene makes oca1 as an autosomal recessive genetic disorder. in this study, we delineated the genetic analysis of an iranian family with four members affected with oca1.  methods: clinical exams and paraclinical test were performed for all patients of the case family, al...

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 ...

objective: β-thalassemia is caused by absence or reduction of β-globin chain synthesis. one of the effective therapeutic methods for this disease can be gene therapy by viral vectors. the capacity of lentiviral vectors is approximately 8 kb, we designed a 6 kb construct containing mini lcr and β-globin gene instead of lcr region. the aim of this study is to make a recombinant lentiviruses conta...

background attention deficit hyperactivity disorder (adhd) is a multi-factorial disorder that has defined by hyperactivity, impulsivity and attention deficits. various neurotransmitters such as dopamine can play a role in its pathophysiology. the aim of this study was to examine the association of two common single nucleotide polymorphisms in drd2 gene, taq i a (t/c) and taq i b (g/a), with adh...

background: the sry gene (sry) provides instructions for making a transcription factor called the sex-determining region y protein. the sex-determining region y protein causes a fetus to develop as a male. in this study, sry of 15 spices included of human, chimpanzee, dog, pig, rat, cattle, buffalo, goat, sheep, horse, zebra, frog, urial, dolphin and killer whale were used for determine of bioi...

background: the multifunctional transforming growth factor beta (tgf-β) is a glycoprotein that exists in three isoforms. tgf-β3 expression increases in fetal wound healing and reduces fibronectin and collagen i and iii deposition, and also improves the architecture of the neodermis which is a combination of blood vessels and connective tissue during wound healing. fibroblasts are key cells in t...

quantitative traits locus for milk production traits has been described on centromeric end of bovine chromosome 14. reports name the acyl coa: diacylglycerol acyltransferase (dgat1) gene as a potential candidate gene with dinucleotide substitution (aa to gc) in exon viii which causes the change of lysine to alanine in amino acid (k232a).the aim of the present study was to estimate the frequency...

the fecb, a mutation in the bone morphogenetic protein receptor ib (bmpr-ib) gene, which increases the fecundity of booroola merino sheep, and fecgh, a mutation in the growth and differentiation factor 9 (gdf9), which affects the fecundity of cambridge and belclare sheep in a dose sensitive manner, were analyzed as candidate genes associated with the prolificacy in rayini goats. these polymorph...

objective: identity the genetic aspects and major gene influence on energy balance, milk production, fertility, food safety and consumer are the recent interests of genetic and breeding researchers. methods: najdi cattle is the most prominent breeds in khuzestan province. to do this plan in shoushtar najdi cattle station, blood samples were taken from 15 najdi cattles. dna was extracted from wh...

conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...