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...

Either PCR-mediated single strand conformation polymorphism (SSCP) analysis or DNA sequencing of rpoB DNA (157 bp) can be used as a rapid screening method for the detection of mutations related to the rifampin resistance of Mycobacterium tuberculosis. However, due to the nonspecific amplification of rpoB DNA from nontuberculous mycobacteria these methods cannot be directly applied to clinical s...

The recent achievement of the human genome project has led to the identification of many disease genes in common hereditary conditions, in which patients and their relatives would benefit from genetic diagnosis. This has increased the need for simple, sensitive, and cost effective methods of mutation analysis. However, the “gold standard” of mutation analysis, direct sequencing, is still an exp...

Secreted phosphoprotein 1 (SPP1) is an acidic, phosphorylated glycoprotein found in fluids including milk and involved development of mammary gland exhibits impact on composition yield. The aim study was to reveal SPP1 gene polymorphisms association with traits Gaolao cattle. Blood collected from 280 cows test day recorded. SPP1G1-BsrI locus intron-IV polymorphic frequency TT genotype 0.99 CT 0...

Point mutations and small insertions or deletions in the human alpha-globin genes may produce alpha-chain structural variants and alpha-thalassemia. Mutations can be detected either by direct DNA sequencing or by screening methods, which select the mutated exon for sequencing. Although small (about 1 kb, 3 exons and 2 introns), the alpha-globin genes are duplicate (alpha2 and alpha1) and highly...

as a case study, the genotypic polymorphism of the iranian material of diploid triticum was screened based on internal transcribed spacer 2 (its2) of the ribosomal dna (rdna) using single strand conformation polymorphism (sscp) analysis. this is a simple and cost effective technique for genotyping and investigating the allelic polymorphism among plant populations. performing sscp analysis among...

BACKGROUND We developed a rapid, precise, and accurate microarray-based method that uses a three-dimensional platform for detection of mutations. METHODS We used the PamChip microarray to detect mutations in codons 12 and 13 of K-ras in 15 cell lines and 81 gastric or colorectal cancer tissues. Fluorescein isothiocyanate-labeled PCR products were analyzed with the microarray. We confirmed the...

in this study, we report a mutation in cybb gene in a patient with x-cgd (diagnosed on the base of family history, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed...

Maturity-onset diabetes of the young (MODY) is a form of NIDDM characterized by an early age of onset and autosomal-dominant inheritance (1). So far, three MODY-causing genes have been identified; namely, the hepatocyte nuclear factor4a (HNF-4a)/M0DYl on chromosome 20q, the glucokinase/M0DY2 on chromosome 7p, and the HNFla/M0DY3 on chromosome 12 q (2-4). The identification of the MODY genes has...