Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...

abstract: a pure nucleotide pool is an essential precursor of correct dna replication and prevention of mutagenesis and abnormality in a living cell. inosine triphosphatase (itpase) is a critical enzyme to remove any deaminated rough purine nucleotides such as inosine from nucleotide pool. it has been shown that the rate of substitution mutation in genomic dna increase by abnormal function and ...

Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. According to the studies, mutations in GJB2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...

Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...

Objective: this study aims to develop a methodology for detecting mutations in the K13 gene and determine mutation frequencies clinical samples. Method: total DNAs were extracted blood samples collected from 50 patients failure with artemisinin treatmentin Central Highlands region. A fragment of was amplified, purified, sequenced by Sanger method. The sequences analysed using Bioedit aligned re...

Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...

breast cancer is the most common cancer among women in developed countries. the prevalence of the disease is increasing in the world. its annual incidence among iranian women is about 7000 cases. rap1a, a tumor suppressor gene, is located at 1p13.3 and plays an important role in the cellular adhesion pathway and is involved in the pathogenesis of breast cancer. the dock4 gene, which is located ...

introduction: cystic fibrosis (cf) is a common genetic disorder in white populations with an autosomal recessive pattern, caused by mutations in the cftr gene. the frequency of more than 1950 various mutations reported in the cftr gene significantly varies in different populations. ∆f508 is a common mutation in exon 10, which is first addressed in the molecular analysis of the disease. other ex...

sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. according to the studies, mutations in gjb2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...