BMC cancer · 2005
Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Mihalatos Markos, Apessos Angela, Dauwerse Hans, Velissariou Voula, Psychias Aristidis, Koliopanos Alexander, Petropoulos Konstantinos, Triantafillidis John K, Danielidis Ioannis, Fountzilas George, Agnantis Niki J, Nasioulas Georgios
Аннотация
BACKGROUND: Familial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations are point mutations or small insertions/deletions which lead to truncated protein products. Splicing mutations or gross genomic rearrangements are less common inactivating events of the APC gene.
METHODS: In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography), sequencing, MLPA (Multiplex Ligation - dependent Probe Amplification), Karyotyping, FISH (Fluorescence In Situ Hybridization) and RT-PCR (Reverse Transcription - Polymerase Chain Reaction).
RESULTS: A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA) and a nonsense mutation (C1690T) were identified in the rest of the patients.
CONCLUSION: Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations.
METHODS: In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography), sequencing, MLPA (Multiplex Ligation - dependent Probe Amplification), Karyotyping, FISH (Fluorescence In Situ Hybridization) and RT-PCR (Reverse Transcription - Polymerase Chain Reaction).
RESULTS: A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA) and a nonsense mutation (C1690T) were identified in the rest of the patients.
CONCLUSION: Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations.
Предметные рубрики MeSH
Adenomatous Polyposis ColiAdultAlternative SplicingChromatography, High Pressure LiquidCodon, NonsenseExonsFamily HealthFemaleFrameshift MutationGene DeletionGene RearrangementGenes, APCGenetic Predisposition to DiseaseGenomeGerm-Line MutationGreeceHumansIn Situ Hybridization, FluorescenceKaryotypingMaleMiddle AgedMutationPedigreePhenotypePoint MutationReverse Transcriptase Polymerase Chain ReactionSequence Analysis, DNA