Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by tumour-like malformations (hamartomas) of the brain, skin, and other organs, often associated with seizures and learning disability. There is genetic heterogeneity with loci for TSC on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2). The recently cloned TSC1 gene has 23 exons spanning some 40 kb of genomic DNA with an 8.6 kb...

Clustered point mutations and small deletions or insertions within DNA are amenable to rapid analysis using induced heteroduplex formation. A single synthetic molecule (universal heteroduplex generator, UHG) may detect any of a series of such mutations following amplification by the polymerase chain reaction. This paper illustrates the use of UHG-based DNA heteroduplex analysis by describing th...

Seventeen different species of Legionella, 12 serogroups of Legionella pneumophila, and 2 Legionella-like amoebal pathogens (LLAP1 and Sarcobium lyticum) were examined by heteroduplex analysis of PCR products of the 5S rRNA gene. Eight different banding patterns were identified, indicating that heteroduplex analysis of this gene can be used to classify these bacteria according to base substitut...

BACKGROUND Establishment of a sensitive, reliable and non-invasive method for the diagnosis of early-stage colorectal cancer is necessary, because colorectal cancer can be cured surgically if diagnosed early. The aim of the present study was to evaluate the feasibility of using PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) analysis of the DNA extracted from the co...

OBJECTIVE To rapidly detect rifampin resistance in Mycobacterium tuberculosis isolates causing meningitis in northeast Iran. METHODS This study presents the results of a polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis for the evaluation of rifampin resistance directly from the CSF of 47 patients strongly suspicious to have tuberculosis meningitis in Emam ...

Single-strand conformation polymorphism (SSCP) analysis of ribosomal DNA (rDNA) was investigated for rapid differentiation of phenotypically similar yeast species. Sensitive tests indicated that some yeast strains with one, most strains with two, and all strains with three or more nucleotide differences in the internal transcribed spacer 1 (ITS1) or ITS2 region could be distinguished by PCR SSC...

The method to internally label PCR products with multiple colored fluorescent dyes was developed and applied to multiple fluorescence-based PCR single-stranded conformational polymorphism (MF-PCR-SSCP) analysis. PCR-amplified fluorescent DNA fragments, which were internally labeled by adding fluorescent dUTPs ([F]dUTPs) to the PCR mixture, were heat-denatured and applied to a nondenaturing poly...

The aim of the study was to develop a reliable and cost-effective method for detection nonsense mutation in APAF1 gene causing lethal effect called HH1 (Holstein Haplotype1) evaluate its prevalence sample Polish Holstein-Friesian bulls. One hundred seventy eight bulls born between 1996 2017 were included analysis. They kept four artificial insemination centers have pedigree known carrier HH1. A...

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...