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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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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PCR-based Single-strand Conformation Polymorphism (SSCP) Analysis to Clone Nine Aquaporin Genes in Cucumber

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non-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 ...

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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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عنوان ژورنال

دوره 2  شماره 2

صفحات  132- 135

تاریخ انتشار 2004-04-01

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