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...

background: breast cancer is the most common malignancy in iranian women. mutations in brca1 gene is one of the important genetic predisposing factors in breast cancer. this gene is a tumor suppressor that plays an important role in regulating the functions of rad51 protein for strand invasion in homologous recombination repair. methods: the brca1 gene has amplified in the dna isolated from bre...

dentinogenesis imperfecta (di) is a hereditary dentin defect caused by an autosomal dominant mutation in dentin sialophosphoprotein gene. defective dentin development results in discolored teeth that are prone to wear and fracture. early diagnosis and proper treatment are necessary to achieve better functional and esthetic results and minimize nutritional deficiencies and psychosocial distress....

neural tube defects (ntds) are complex problem of central nervous system including brain and spinal cord. anencephaly and myelomeningocele are the two most common forms of ntds. epidemiological studies reveal that genetic and environmental factors are responsible for the development of ntds. during embryogenesis large numbers of extrinsic and intrinsic factors are responsible for the closer of ...

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematologic disorder with multiple and varied clinical manifestations. The biochemical defect in PNH resides in the incomplete enzymatic assembly of glycosylphosphatidylinositol (GPI) anchors used for surface protein attachment. In all patients tested thus far, the defect is at the level of N-acetylglucosamine attachment to phospha...

BACKGROUND Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital disorder of glycosylation type 1a and congenital heart defects have already been reported, but ther...