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...

background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which is caused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defective ldlr and hence cho...

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...

OBJECTIVES It has been reported that the mutation of the pre-core (PC) and basal-core promoter (BCP) may play an important role in the development of HBV-related hepatocellular carcinoma (HCC). In this study the PC and BCP mutations were investigated in chronic HBV patients. MATERIALS AND METHODS In this study, 120 chronic HBV patients from Golestan, Northeast of Iran who were not vaccinated ...

: Hypohidrotic ectodermal dysplasia (HED) is the most common type of that result faulty development leading to such defects as hypotrichosis, anodontia or hypodontia, and hypohidrosis anhidrosis. X-linked HED caused by mutations in ectodysplasin A (EDA) gene accounts for 90% all cases. Autosomal other involved genes, EDA-receptor (EDAR) gene. In this study, we included two distinct families wit...

BACKGROUND We aimed to determine the incidence of co-inheritance as well as interaction of sickle cell trait (SCT) and α(thal)/β(thal) mutations in south and south central of Iran. METHOD We employed a PCR and restriction fragment length polymorphism techniques to confirm diagnosis of sickle cell trait. All subjects were screened for any α/β -thalassemia mutations using a gap-polymerase chain...

BACKGROUND/AIMS We aimed to investigate the relation-ships among various mutations of the p53 gene and their protein products, histological characteristics, and disease prognosis of primary colorectal cancer in Isfahan, central Iran. METHODS Sixty-one patients with colorectal adenocarcinoma were enrolled in the study. Mutations of the p53 gene were detected by single-stranded conformation pol...

Beta thalassemia is the  most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...