ArticleFamilial cancer2005
Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH.
Article in Familial cancer, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 11 citations in OpenAlex.
- Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.Experimental & molecular medicine · 2010Article
- Quadruplex MAPH: improvement of throughput in high-resolution copy number screening.BMC genomics · 2009Article
- DNA mismatch repair and Lynch syndrome.Journal of molecular histology · 2006Review
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7 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundExonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening methods.
aimsWe aimed to develop methods for screening copy number changes in all the exons of the MLH1 and MSH2 genes using a single multiplex amplifiable probe hybridisation (MAPH) assay.
methodsWe developed a probe set consisting of probes from the 19 exons of MLH1 and 16 exons of MSH2, and 3 control probes, and applied it to screening for deletions and duplications using fluorescent detection of amplified fragments.
resultsWe tested 73 DNA samples from controls and 50 from HNPCC patients in whom no point mutations had been found, and detected 10 copy number changes among the patient samples. A deletion of about 1.4 kb including exon 3 of MSH2 was confirmed by amplification of a junction fragment, and was shown to be the result of an unequal recombination between intronic Alu elements.
conclusionsMAPH can detect exonic copy number changes in MLH1 and MSH2 in DNA from HNPCC patients. Since finding an exonic deletion or duplication makes full sequence analysis unnecessary, it may be most cost-effective to pre-screen samples by MAPH or MLPA before screening for point mutations.
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