Abstract Loss-of-function variants in the dystrophin gene, a well-known cause of muscular dystrophies, have emerged as mutational risk mechanism for autism spectrum disorder (ASD), which turn is highly prevalent (~ 1%) genetically heterogeneous neurodevelopmental disorder. Although association intellectual disability with dystrophinopathies Duchenne (DMD) and Becker dystrophy (BMD) has been lon...

in this study we estimated the allele and genotype frequencies of scd1 and dgat1 gene polymorphism. the analysis was conducted on 408 holstein cows from five dairy herds in isfahan province. genotypes were identified using pcr-rflp technique. two genetic variants (a and v) of the scd1 gene were observed in this experiment. the frequency of a-allele ranged from 0.49 to 0.66, while frequency of v...

background: mutations of gjb2 gene encoding connexion 26 are the most common cause of hearing loss in many popula­tions. a very wide spectrum of gjb2 gene mutations associated with hearing loss have been detected but pathogenic role has been tested only for a part of them. in this study, we have provided genetic evidence on the pathogenicity of our previ­ously reported novel gjb2 allelic varian...