Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP)

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Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis

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...

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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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جهش های ژنتیکی جدید در ژن های اصلی سرطان پستان (BRCA1/BRCA2) در زنان ایرانی مبتلا به سرطان پستان زودرس

Background: Breast cancer is the most common female malignancy and the main cause of death in  mid-aged women. Genetic germ line mutations in BRCAI/BRCA2 in Iranian women with breast or  ovarian cancer have not been yet reported. Materials and methods: Clinical data, family history and blood samples were obtained from 83  females aged less than 45 years with primary breast cancer in order to su...

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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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ژورنال

عنوان ژورنال: Human Mutation

سال: 2001

ISSN: 1059-7794,1098-1004

DOI: 10.1002/humu.1195