hereditary ataxias are heterogeneous group of neurodegenerative disorders classified mainly into more than 40 autosomal dominant cerebellar ataxias and 50 recessive ataxias. large amount of nearly uncommon subtypes with extensive phenotypic overlap and relatively high rate of abnormal repetitive sequence expansions, such as trinucleotide repeat expansions make diagnostic genetic testing complic...

In this study, Substitution at codon Ser315 of katG gene, a reliable marker for isoniazid (INH) resistance was analyzed and compared by three molecular methods such as DNA  sequencing, polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and PCR-single strand conformation polymorphism (PCR-SSCP) in 105 phenotypically resistant isolates obtained from various parts of Ind...

in this study the genetic diversity of wild caspian trout (salmo trutta caspius) in the sardabroud and astara rivers was evaluated using d- loop region sequencing. for this purpose, 35 specimens of adult caspian brown trout were collected from these rivers in the mazandarn and gilan provinces in fall and winter 2011. approximately 3-5 g of soft and fresh fin tissue was isolated and fixed in eth...

conclusions according to the liver microrna data of chinese tree shrew, characteristics of the mir-122 and let-7 families further highlight the suitability of tree shrew as the animal model in hcv research. objectives this study aimed to construct a liver microrna (mirna) data of the tree shrew. materials and methods three second filial generation tree shrews were used in this study. total rna ...

conclusions by applying wes, both novel and known scz pathogenic variants with complete or incomplete segregation in the families with multiple cases of schizophrenic patients were identified. background schizophrenia (scz) is a complex neuropsychiatric disorder characterized by pronounced genetic heterogeneity. much of the genetic architecture of the disorder has not yet been clearly elucidate...

neuromuscular disorders (nmds) include a broad range of diseases affecting muscles, nerves and neuromuscular junctions. approximately 761 different disorders occur in this group which is subdivided into 16 different subgroups with 406 known genes. nmds are genetically and clinically heterogeneous conditions. the advent of next generation sequencing (ngs) approaches has accelerated the pace of d...

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...