introduction: with prevalence figures close to 0.2% at birth, hearing loss (hl) is the most frequent sensory impairment in childhood. in developed countries, genetic causes account for more than 60% of congenital hl, most often resulting in non-syndromic deafness, which is usually autosomal recessive. hereditary nonsyndromic hearing loss (nshl) in iran is highly heterogeneous, rendering molecul...

hypohidrotic ectodermal dysplasia (hed) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. the phenotype of hed is associated with mutation in eda, edar, edaradd and nemo genes, all of them disruptingnf-κb signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. here w...

background: brca1 and brca2 genes have been recognized to be responsible for 20-30% of hereditary breast can­cers and approximately 50% of familial breast and ovarian cancers. therefore, the demand for brca1 and brca2 muta­tion screening is rapidly increasing as their identification will affect medical management of people at increased risk. because of high costs involved in analysis of brca1 a...

ulcerative colitis and crohn's disease are chronic, relapsing, inflammatory conditions defined by their phenotypic features. family studies have identified a clear genetic influence on disease susceptibility and expression. molecular studies have identified specific genes that predispose individuals to the development of inflammatory bowel disease. some of these genes are specific to either ulc...

Aim. The goal is to determine the similarities and differences in primary structure of genes that chitinases from GH19 family strains S. griseus HUT6037 coelicolor A3(2). Investigate distribution streptomycetes genomes sequences are similar сhiC сhiF genes. Methods. Information on nucleotide annotations studied streptomycete chromosomes (including chitinase A3(2) HUT6037) freely available GenBa...

Many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. Among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. Early detection of mutation carriers in these genes, in turn, can play an import...