نتایج جستجو برای: sscp assay and sequencing
تعداد نتایج: 16868320 فیلتر نتایج به سال:
When hepatitis C virus (HCV) infection recurs after liver transplantation, it is unclear whether the liver graft is colonized by virions present in the circulation or by those associated with peripheral blood mononuclear cells (PBMC). In 6 HCV-infected transplant recipients, HCV sequences were analyzed by the single-strand conformational polymorphism (SSCP) assay and direct sequencing in pretra...
BACKGROUND AND AIM The focus of the study was to investigate the frequencies of homozygous deletions and mutations of p16 gene in gastric carcinomas in the Kashmiri population. METHODS A total of 84 gastric carcinoma patients were screened by the single strand conformation polymorphism (SSCP) technique and later by DNA sequencing to detect mutations of the p16 gene. Also PCR was applied furth...
Single strand conformation polymorphism (SSCP) analysis discriminated three mtDNA haplotypes in the greenbug, Schizaphis graminum (Rondani) (Homoptera: Aphididae), previously identified by sequencing a 1.0–1.2 kb portion of the cytochrome oxidase subunit I (COI) gene. Neighborjoining, maximum parsimony, and maximum likelihood analysis of a 150 b portion of the original 1.2 kb fragment of the CO...
abstract objective: in this study, we evaluated pten mutations in cowden disease and juvenile polyposis syndrome. pten mutations were detected, cancer and other phenotypes associated with each of these mutations were characterized and loss of wild type pten allele in the associated tumors was demonstrated. methods: out of 9 patients included in this study, 8 had juvenile polyposis and 1 had c...
background: multiple sclerosis (ms), a chronic inflammatory demyelinating disorder with neurodegenerative aspects, is more common among young adults, particularly women. methods: this molecular study was designed to investigate the il-7r α chain gene in iranian ms patients. we studied 60 ms patients, diagnosed based on 2005 r-mcdonald criteria and 60 apparently healthy individuals as the contro...
This study was conducted to assess the possible association between polymorphisms of transcription factor 7-like 2 (TCF7L2) gene and obese Iraqi adults. DNA obtained from 158 subjects 142 controls. Two specific PCR fragments were designed incorporate two highly frequent single nucleotide polymorphism (SNP)s within TCF7L2, rs11196208 rs7908486. Both amplified loci genotyped by PCR-single-strand ...
Familial hypercholesterolaemia (FH) is an autosomal codominant disorder characterised by high levels of LDL cholesterol and a high incidence of coronary artery disease. Our aims were to track the low density lipoprotein receptor (LDLR) gene in individual families with phenotypic FH and to identify and characterise any mutations of the LDLR gene that may be common in the west of Scotland FH popu...
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited tumor syndrome caused by RET proto-oncogene germline mutations (RET). Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied by direct sequencing analysis, CSGE and Single Strand Conformational Polymorphism (SSCP). Using C...
BACKGROUND Epidermal growth factor receptor (EGFR) is a transmembrane receptor which contributes to many processes involved in cell survival, proliferation and inhibits apoptosis, that may lead to cancer development. Gastric cancer is one of the most common diseases of digestive system that has low 5-year-survival. The aim of this research was to determine the significance of EGFR tyrosine kina...
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 CT in exon 8. This mutation resulted in 290 ArgStop. We also observed a...
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