introduction oculocutaneous albinism (oca) is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. conclusions a novel homozygous mutation, the deletion of exons 1 - 5 on the tyr gene, was found on the molecular genetic testing of this patient. exon 1 - 5 deletion on tyr causes a lack of ...

background: numerous evidences indicate that in some hiv-1 positive patients, the humoral and cellular immune responses are induced against hiv-1 proteins and this is inversely related to the progress of infection. objective: the aim of this study was the evaluation of the adenovectors containing hiv genes in induction of immune responses in mice. methods: the hiv-1 genes including gag p24, rev...

background: hearing loss (hl) is the most frequent neurosensory impairment. hl is highly heterogeneous defect. this disorder affects 1 out of 500 newborns. this study aimed to determine the role of dfnb2 locus and frequency of myo7a gene mutations in a population from west of iran. methods: thirty families investigated in shahrekord university of medical sciences in 2014, genetic linkage analys...

ataxia telangiectasia (at) is an autosomal recessive multi-system disorder, characterized by variable immunodeficiency, progressive neurodegeneration, occulocutaneous telangiectasia, and increased susceptibility to malignancies. this study was designed to study the role of pro-apoptotic bak, bax, nbk/bik genes in a group of patients with at to elucidate the possible role of these genes in progr...

Introduction: Despite improvements in the diagnosis and treatment of lung cancer in the past two decades, it has remained the most common cause of death from cancer worldwide. Among all genes that are mutated in lung cancer, TP53 located on chromosome 17P13/1 has a significant diagnostic and prognostic value. TP53 mutations have been extensively studied in lung cancer and TP53 mutational spectr...

Background The immotile short tail sperm (ISTS) defect is one of the disorders that cause male infertility. Men with this condition have immotile short-tail sperm with structural defects in the fibrous sheath(FS). A Kinase Anchoring Protein 4 (AKAP4) is one of the most abundant proteins in the fibrous sheathof sperm flagella and provides scaffold for the correct assembly of FS.Since exon 6 of A...

Medullary thyroid cancer accounts for 5-10% of thyroid carcinomas. RET proto-oncogene mutations occur in all of the hereditary MTCs and about 66% of the sporadic MTCs. So, the detection of the RET mutations is necessary for rapid and proper diagnosis and treatment. This systematic review seeks to find a comprehensive list of RET gene mutations in the diagnosis of medullary thyroid cancer. The ...

Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutat...