Carrier Determination in a Hemophilia B Family Using Single Strand Conformation Polymorphism (SSCP) and Sequencing
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Carrier determination in a Hemophilia B family using single strand conformation polymorphism (SSCP) and sequencing
Hemophilia B is an X-linked recessive bleeding disorder caused by heterogeneous mutations in factor IX gene. In about one-third of cases it arises by a new mutation in germ-line cells. In this study carrier testing was performed for females of a family with only one affected individual by single strand conformation polymorphism (SSCP). Results indicated that the SSCP band shift in the propositu...
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We have developed a DNA-based method for defining MHC B system genotypes in chickens. Genotyping by this method requires neither prior determination of allele-specific differences in nucleotide sequence nor the preparation of haplotype-specific alloantisera. Allelic differences at chicken B-F (class I) and B-L (class II) loci are detected in PCR single-strand conformation polymorphism (SSCP) as...
full textF-SSCP: fluorescence-based polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis.
A fluorescence-based method for polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis, F-SSCP, was developed in which the target sequence is amplified by the PCR using fluorescent primers. The amplified products are then heat-denatured and applied to a water-jacket controlled gel in an automated DNA sequencer. The separated strands are detected as laser-excited f...
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Combining the use of PCR and single-strand conformation polymorphisms (SSCP), nine sequences from the cucumber genome were successfully identified and cloned that encoded two well-conserved asparagine-proline-alanine (NPA) domain homologues to aquaporin genes. The sensitivity and detection efficiency of SSCP and restriction enzyme analysis for detecting DNA sequence variation were evaluated usi...
full textnon-radioactive single-strand conformation polymorphism (sscp) analysis of relatively long pcr products
the sscp technique is based on the appearance of new “refolding” conformations during electro-phoresis due to mutation. in order to develop a simple, non-radioactive sscp analysis method so that it can reliably detect single nucleotide changes in pcr products up to 500 bp in length, extensive optimisation trials were performed . the best separation of sscp bands of pcr products up to 500 bp in ...
full textScreening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP.
Single-strand conformation polymorphism (SSCP) is a simple method for detecting the presence of mutations in a segment of DNA, but the fraction of all mutations detected is unclear. We have evaluated SSCP for the detection of single-base mutations in the factor IX gene. Multiple conditions were examined including electrophoresis temperature, electrophoresis buffer concentration, acrylamide to b...
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Journal title
volume 2 issue 2
pages 132- 135
publication date 2004-04-01
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