objective: this study was designed to investigate rbc indices and hba2 levels in parents of major beta-thalassemia patients to detect possible silent beta- thalassemia carriers and examine its potential impact on the premarital genetic counseling. materials and methods: this cross sectional study was performed at children medical center from 2004 to 2006. after genetic counseling and getting in...

objective(s): breast cancer is the most common cancer in women. every year, one million new cases are reported worldwide, representing 18% of the total number of cancer in women. hereditary brca1 and brca2 mutations account for about 60% of inherited breast cancer and are the only known causes of hereditary breast cancer syndrome. the aim of this study was to determine the frequency of brca2 (e...

glutaric acidemia, type i (ga i), was first described in 1975. the disease is caused by a genetic deficiency of the enzyme, glutaryl-coa dehydrogenase (gcd), which leads to the buildup of glutaric acid in the tissues and its excretion in the urine of affected patients. gcd is involved in the catabolism of the amino acids, lysine, hydroxylysine, and tryptophan. over 200 cases of ga i have been r...

bacground: wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. the disorder is caused by mutations in the atp7b gene, encoding a copper transporting p-type atpase. characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families.materials and methods: we en...

abstract background: many disease susceptibility genes are large and consist of many exons in which point mutations are scattered throughout. scanning each exon individually represents a tedious task which can be time consuming and expensive. there has been increasing demand for rapid and accurate methods for full scanning of unknown point mutations in large multi-exon genes. gene assembling is...

hearing loss (hl) is the most frequent sensory defect present in 1 of every 500 newborns. in developed countries, at least 50% of cases are caused genetic factors, most often resulting in nonsyndromic hl (70%), which is usually autosomal recessive (80%). to date, fifty genes associated with autosomal recessive non-syndromic hearing loss (arnshl) have been reported.  the aim of this study was to...

Background & Objective: FLT3-ITD mutation detection has been an integral part of diagnostic work ups focused on acute myeloid leukemia. However, some studies have indicated that the mutation is unstable during the various stages of the disease. The purpose of this study was to evaluate the stability of this marker in paired diagnosis-relapse samples using Delta-PCR method. Materials & Methods:...

background and objectives: jak2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. jak2v617f mutation is characterized by a g to t transverse at nucleotide 1849 in exon 12 of the jak2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the jak2 protein. in this study we compared two molecular methods ...

The nature and pace of genome mutation is largely unknown. Standard methods to investigate DNA-mutation rely on arraying or sequencing DNA from a population of cells, hence the genetic composition of individual cells is lost and de novo mutation in cell(s) is concealed within the bulk signal. We developed methods based on (SNP-) arraying and next-generation sequencing of single-cell whole-genom...