introduction: congenital long qt syndrome (lqts) is a cardiac disorder characterized by qt interval prolongation at basal ecg. different lqts genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. long qt syndrome type 6 (lqt6) is caused by mutation in the kcne2 gene. our research aimed to analyze genetic variants of kcne2 gene causing the disease in irania...

background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which is caused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defective ldlr and hence cho...

cystic fibrosis (cf) is the most common inherited disorder in caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (cftr) mutations. the type of mutations and their distributions varies widely between different countries and/or ethnic groups. seventy iranian cystic fibrosis patients were screened for the cftr gene mutation using arms/pcr (amplification refra...

background: varicocele is associated with the failure of ipsilateral testicular growth and development, and the symptoms of pain and reduced fertility. the highly condensed structure of the sperm nuclear chromatin is provided by proper expression of transition nuclear protein (tnp) genes, so any dysregulational expression of these genes results in abnormal spermatogenesis and infertility. objec...

ghrelin is a peptide hormone that is composed of 26 amino acids and leads to a positive energy balance and obesity through stimulation of releasing growth hormone, and increasing food intake and body weight.  the purpose of this study was to determine and evaluate the association between the ghrelin gene polymorphism and growth traits in ross and cobb broiler chickens. blood samples were collec...

optimization of the condition for pcr-directed sequencing of microsatellites poly adenine (a) length polymorphisms is more difficult and sensitive compared with other common sequences. replication slippage may occur for polymerase enzyme during microsatellite amplification and direct sequencing of these pcr products will be challenging for heterozygote samples. so, the aim of this study is to i...

  Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...

introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...