abstract objective autosomal recessive spinal muscular atrophy (sma) is, after cystic fibrosis, the second most common fatal monogenic disorder and the second most common hereditary neuromuscular disease after duchenne dystrophy. the disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. depending on the clinical type (werdnig- ho...

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...

Aim.To analyze the distribution of species-specific mobile genetic elements (MGE) in orthologs MGMT gene Platyrrhina. Methods. The homology between nucleotide sequences was determined by BLAST 2.6.1. results search and identification MGE were performed using CENSOR program. Results. On example New World monkeys, it has been shown that different identified their intron may have evolutionary chro...

background the hepatitis b virus x (hbx) protein has long been recognized as an important transcriptional transactivator of several genes. human aldo-keto reductase family 1, member c1 (akr1c1), a member of the family of akr1cs, is significantly increased in hbx-expressed cells. objectives this study aimed to investigate the possible mechanism of hbx in regulating akr1c1 expression in hepg2.2.1...

Background & Aims: The most significant cause of infertility in men is the genetic deletion in the azoospermia factor (AZF) region that is caused by the process of intra- and inter-chromosomal homologous recombination in amplicons. Homologous recombination could also result in partial deletions in AZF region. The aim of this research was to determine the association between the partial AZFc del...

background: despite the genetic heterogeneity reported in familial als (fals), sod1 gene mutations are the most frequent cause of fals, accounting for around 20% of familial cases (als1) and isolated sporadic cases. mutant forms of sod1 exhibit toxicity that promotes the death of motor neurons. it is well documented that fals produces protein aggregates in the motor neurons of fals patients, wh...

conclusions association with sex, genotype and clinical symptoms revealed that the pre-s1 orf deletion occurred in 40% , 40%,and 20% of genotypes b,c, and d respectively, and 80% of the female population, of which all but one were diagnosed with chronic hepatitis b. additionally, several mutations were found in the bcp region with the following incidence rate; c1653 t (8.6%), a1752 g (10.8%),17...