By application of modern recombinant DNA technology, especially the polymerase chain reaction (PCR)/dot-blot hybridization techniques, we have investigated the molecular basis of β-thalassemia from four different regions of Iran: central, south-east, south and north. In this study, the DNA samples were isolated from patients and for the identification of the mutations, the 6 oligonucleotide...

Background: Clarithromycin resistance in Helicbacter pylori has been found to be associated with point mutations in 23s rRNA gene leads to reduced affinity of the antibiotic to its ribosomal target or changing the site of methylation. The aim of this study was to determine the most important point mutations in 23s rRNA gene in H. pylori that are closely related to clarith-romycin resistance amo...

Background and Aims: Congenital factor V (FV) deficiency is a rare bleeding disorder with 1 in 1000000 persons in the general population. Individuals with FV activity <1% and very low FV antigen levels are characterized as severe FV deficient patients. Little data is available about the molecular basis of this bleeding disorder in Iran. Materials and Methods: We analyzed 7 unrelated Iranian FV...

background: mitochondrial transfer rnas (trna) genes are essential components of protein biosynthesis. these genes are hotspots for mutations. these mutations are associated with a wide spectrum of human disease. many genetic factors are known in assessment of repeated pregnancy loss (rpl). objective: the aim of this study was analysis of trna thr and trna pro in women with rpl. materials and m...

introduction: to study the prevalence of most common β-thalassemia mutations in lorestan province and use the results for epidemiologic study and prenatal diagnosis of β_thalassemia major. material and methods: 130 chromosomes from 65 unrelated homozygous β_thalassemia patients from lorestan province of iran (west-central) were investigated for β globin gene mutations by arms pcr. results: most...

objective: hearing loss is the most frequent neurosensory defect in human. mutations in gjb2 and gjb6 are responsible for 50% of autosomal recessive non-syndromic hearing loss (arnshl) cases. here we report on the frequencies of gjb2 and gjb6 mutations and three large deletions spanning the gjb6 gene including del (gjb6-d13s1830), del (gjb6-d13s1854) and a >920 kb deletion in patients affected ...

lhon is a mitochondrial neurodegenerative disorder often manifesting itself in the second or third decade of life, and hence resulting in progressive central vision loss usually in a short period of 2-8 weeks within which different degrees of blindness may occur. etiologically, more than twenty missense mutations have been reported for lhon, amongst which the three mutations of g11778a, g3460a ...

objective: colorectal cancer (crc) is one of the most common and aggressive cancers worldwide. the majority of crc cases are sporadic that caused by somatic mutations. the adenomatous polyposis coli (apc; omim 611731) is a tumor suppressor gene of wnt pathway and is frequently mutated in crc cases. this study was designed to investigate the spectrum of apc gene mutations in iranian patients wit...