MLPA mutation detection in Argentine HNPCC and FAP families

Autor: Laura C Gomez, Gabriela De Marchi, Diego M. Marzese, Bart Mol, Diego Bertani, Jorge Ibarra, Ivonne Johanna Vos, María Roqué, Jose Adi
Rok vydání: 2008
Předmět:
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
Zdroj: Familial Cancer, 8(1), 67-73. SPRINGER
ISSN: 1573-7292
1389-9600
DOI: 10.1007/s10689-008-9200-1
Popis: 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
Databáze: OpenAIRE
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