Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, 7505, South Africa The ability to detect mutations in individuals and the subsequent DNA diagnosis of genetic diseases are becoming increasingly important for the researcher and diagnostician. Single-base substitutions (80-90%) can be detected by single-strand conformation polymorphism (SSCP) (1) or hetero...

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...

Single-stranded conformational polymorphism (SSCP) analysis is useful for mutation detection and polymorphism identification. To realize high-throughput SSCP analysis using a high-intensity electric field, the gel temperature must be well-controlled. We have developed an electrophoretic system having a pair of glass plates with an efficient temperature-controlling apparatus on each side of the ...

The genetic improvement of production traits can be made through marker assisted selection using a candidategene approach. Bone morphogenetic proteins (BMPs) are multifunctional growth factors that belong to thetransforming factor b (TGF-b) superfamily. This study aimed detect the polymorphism BMP-4in different goat breeds by polymerase chain reaction-single strand confirmational (PCR-SSCP) and...

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...

We present the first optimization of linear polyacrylamide (LPA)-based DNA separation matrixes for an automated tandem microchannel single-strand conformation polymorphism (SSCP)/heteroduplex analysis (HA) method, implemented in capillary arrays dynamically coated with poly(N-hydroxyethylacrylamide) (polyDuramide). An optimized protocol for sample preparation allowed both SSCP and HA species to...

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...

The purposes of this study were to investigate single strand conformation polymorphisms (SSCP) in the D-loop region of pig mitochondrial DNA (mtDNA) and to determinate their association with the reproductive traits of meishan pigs. A total of four types of band patterns, designed SSCP band pattern A, B, C and D, were identified. A type of SSCP band pattern was present in all European-American b...

Single strand conformation polymorphism (SSCP) and heteroduplex analysis (HDA) are two of the most popular electrophoresis-based mutation detection methods. Coupled to DNA amplification of the sequence to be analyzed, these techniques have become the methods of choice for a number of molecular diagnostic laboratories. This can be explained mainly by the numerous advantages, namely their technic...

The Nramp1 (Natural resistances macrophage protein1) gene or recently renamed Slc11a1 (solute carrier family 11 member1) is a member of a large family of genes coding for metal ion-transporting proteins. Nramp1 gene plays a critical role in innate immunity favoring bacterial killing by macrophages in addition to its influence on adaptative immunity. The aim of the present investigation was to i...