1. MLPA mutation detection in Argentine HNPCC and FAP families
- Author
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Laura C Gomez, Gabriela De Marchi, Diego M. Marzese, Bart Mol, Diego Bertani, Jorge Ibarra, Ivonne Johanna Vos, María Roqué, and Jose Adi
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Cancer Research ,APC GENE ,Colorectal cancer ,DNA Mutational Analysis ,Argentina ,Mutation, Missense ,HNPCC ,Biology ,MLH1 ,Polymerase Chain Reaction ,COLORECTAL-CANCER ,Familial adenomatous polyposis ,Genetics ,medicine ,Humans ,Multiplex ligation-dependent probe amplification ,Genetics (clinical) ,MMR genes ,Adaptor Proteins, Signal Transducing ,RISK ,Base Sequence ,Gene Amplification ,Duplications ,FAP ,Nuclear Proteins ,Single-strand conformation polymorphism ,medicine.disease ,Colorectal Neoplasms, Hereditary Nonpolyposis ,Human genetics ,MLPA ,Pedigree ,DELETIONS ,Adenomatous Polyposis Coli ,Oncology ,MISMATCH-REPAIR GENES ,DNA mismatch repair ,Restriction fragment length polymorphism ,Missence mutation ,MutL Protein Homolog 1 ,NONPOLYPOSIS COLON-CANCER ,Nucleic Acid Amplification Techniques ,Polymorphism, Restriction Fragment Length ,Software - Abstract
Colorectal cancer (CC) is the secondary cause of death in the Western countries of which approximately 15% are considered to be hereditary. The hereditary forms are Familial Adenomatous Polyposis (FAP) and Hereditary Non Polyposis Colorectal Cancer (HNPCC) which is the commonest form. The detection of mutations in the MMR and apc related genes, allows the development of health prevention strategies. Different molecular diagnostic strategies are available for the detection of mutations in these genes, i.e. DGGE, SSCP and direct sequencing. However, deletions and duplications of one or more consecutive exons, which account for around 50% of the total alterations in MMR genes, cannot be detected by PCR based methodologies due to the non quantitative nature of these techniques. The aim of our work has been the standardization of a methodology, called Multiplex Ligation-Dependent Probe Amplification, which allows the detection of genomic deletions and duplications as primary analysis in HNPCC and FAP patients in Argentina. In this case, we inform that the application of MLPA allowed the detection of a missence mutation, without the need for direct sequencing of the complete genes involved. A PCR/RFLP strategy was afterwards designed to detect the C
- Published
- 2008
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