wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. inactivation of the atp7b gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. nowadays, up to 500 mutat...

Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further assess their genetic heterogeneity and mutational spectra, we have analyzed 57 consanguine Pakistani MCPH families. In 34 MCPH families, we detected...

Background: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac death in young people. KCNQ1 is the most common gene responsible for this syndrome. Methods: Molecular investigation was performed by DNA Sanger sequencing in Iranian families with a history of syncope. In silico examinations were performed for predicting the path...

abstract β-thalassemia major (β –tm) is the most common thalassemia severe phenotype among iranians. in recent years, molecular understanding of pathogenesis of β –tm has provided a great opportunity regarding diagnostic issues. creating comprehensive molecular databases provides highly sensitive diagnostic tools for β –tm and effective prenatal diagnosis (pnd) molecular screening tests. despit...

background: heterogeneous mutations in the human coagulation factor ix gene lead to an x-linked recessive bleeding disorder known as hemophilia b. the disease is distributed worldwide with no ethnic or geographical priority. materials and methods: the aim of this study was to characterize the factor ix gene mutations in 28 unrelated iranian hemophilia b patients. polymerase chain reaction (pcr)...

background: alpha thalassemia (α-thal) is one of the most common hemoglobinopathies worldwide. the aim of this study was to investigate the spectrum of α-thal mutations among premarital baluch couples in southeastern iran. subjects and methods: we assessed 1215 individuals by multiplex gap polymerase chain reaction (gap-pcr) and amplification refractory mutation system (arms-pcr). results: of t...

background congenital factor xiii (fxiii) deficiency is a rare severs autosomal recessive bleeding disorder. objectives the aim of the study was to determine the c559t > c fxiiia genotype frequency in patients with fxiii hemophilia who lived in sistan and balouchestan province in southeast of iran. patients and methods we determined the genotype of 180 patients with factor xiii hemophilia by te...

Background: Pharmacogenomics is the study of genetic variations among individuals to predict the probability that a patient will respond to single or multidrug chemotherapy. Breast cancer is one of the most common cancers among women worldwide. Treatment of breast cancer by application of biological rationales gives us the ability to match the correct pharmacology to individual tumour genetic p...

OBJECTIVE Nephropatic Cystinosis (NC) is a rare metabolic disorder due to mutation in the CTNS gene in which more than 90 different mutations have already been reported so far. This study was performed to investigate mutations of the CTNS gene and its promoter in a number of Iranian patients with NC. METHODS Polymerase chain reaction and direct sequencing were performed for molecular characte...