Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B
نویسندگان
چکیده
منابع مشابه
Carrier Determination in a Hemophilia B Family Using Single Strand Conformation Polymorphism (SSCP) and Sequencing
متن کامل
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...
متن کاملF-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...
متن کاملnon-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 ...
متن کاملSingle-strand conformation polymorphism (SSCP) assays for major histocompatibility complex B genotyping in chickens.
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...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1993
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.1380020506