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Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.

Gille JJ, Hogervorst FB, Pals G, Wijnen JT, van Schooten RJ, Dommering CJ, Meijer GA, Craanen ME, Nederlof PM, de Jong D, McElgunn CJ, Schouten JP, Menko FH - Br. J. Cancer (2002)

Bottom Line: Thirty-eight germline mutations were detected in 37 (29.4%) of these kindreds, 31 of which have a predicted pathogenic effect.A complete deletion of the MLH1 gene was detected in two families.In addition, it reveals alterations that might escape detection using conventional diagnostic techniques.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Genetics and Human Genetics, Cancer Family Clinic, VU University Medical Center, 1007 MB Amsterdam, The Netherlands. jjp.gille@vumc.nl

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(A) Multiplex Ligation-dependent Probe Amplification (MLPA). Denatured genomic DNA (50–500 ng) is hybridised with a mixture of 42 probes. Each MLPA probe consists of two oligonucleotides. The two parts of each probe hybridise to adjacent target sequences and are ligated by a thermostable ligase. All probe ligation products are amplified simultaneously by PCR using a single primer pair. The amplification product of each probe has a unique length (130–472 bp). Amplification products are separated by capillary electrophoresis (ABI model 310 or ABI 3700). Relative amounts of probe amplification products reflect the relative copy number of target sequences. (B) Deletion of the entire MLH1 gene detected by MLPA. Normalised MLPA peak pattern from the index patient of family C149 (red) and from control DNA (blue) plotted in one figure for easy comparison. MLH1 peaks are labelled with their exon numbers. Unlabelled peaks represent MSH2 exons and control genes.
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fig1: (A) Multiplex Ligation-dependent Probe Amplification (MLPA). Denatured genomic DNA (50–500 ng) is hybridised with a mixture of 42 probes. Each MLPA probe consists of two oligonucleotides. The two parts of each probe hybridise to adjacent target sequences and are ligated by a thermostable ligase. All probe ligation products are amplified simultaneously by PCR using a single primer pair. The amplification product of each probe has a unique length (130–472 bp). Amplification products are separated by capillary electrophoresis (ABI model 310 or ABI 3700). Relative amounts of probe amplification products reflect the relative copy number of target sequences. (B) Deletion of the entire MLH1 gene detected by MLPA. Normalised MLPA peak pattern from the index patient of family C149 (red) and from control DNA (blue) plotted in one figure for easy comparison. MLH1 peaks are labelled with their exon numbers. Unlabelled peaks represent MSH2 exons and control genes.

Mentions: In MLPA, illustrated in Figure 1AFigure 1


Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.

Gille JJ, Hogervorst FB, Pals G, Wijnen JT, van Schooten RJ, Dommering CJ, Meijer GA, Craanen ME, Nederlof PM, de Jong D, McElgunn CJ, Schouten JP, Menko FH - Br. J. Cancer (2002)

(A) Multiplex Ligation-dependent Probe Amplification (MLPA). Denatured genomic DNA (50–500 ng) is hybridised with a mixture of 42 probes. Each MLPA probe consists of two oligonucleotides. The two parts of each probe hybridise to adjacent target sequences and are ligated by a thermostable ligase. All probe ligation products are amplified simultaneously by PCR using a single primer pair. The amplification product of each probe has a unique length (130–472 bp). Amplification products are separated by capillary electrophoresis (ABI model 310 or ABI 3700). Relative amounts of probe amplification products reflect the relative copy number of target sequences. (B) Deletion of the entire MLH1 gene detected by MLPA. Normalised MLPA peak pattern from the index patient of family C149 (red) and from control DNA (blue) plotted in one figure for easy comparison. MLH1 peaks are labelled with their exon numbers. Unlabelled peaks represent MSH2 exons and control genes.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2376172&req=5

fig1: (A) Multiplex Ligation-dependent Probe Amplification (MLPA). Denatured genomic DNA (50–500 ng) is hybridised with a mixture of 42 probes. Each MLPA probe consists of two oligonucleotides. The two parts of each probe hybridise to adjacent target sequences and are ligated by a thermostable ligase. All probe ligation products are amplified simultaneously by PCR using a single primer pair. The amplification product of each probe has a unique length (130–472 bp). Amplification products are separated by capillary electrophoresis (ABI model 310 or ABI 3700). Relative amounts of probe amplification products reflect the relative copy number of target sequences. (B) Deletion of the entire MLH1 gene detected by MLPA. Normalised MLPA peak pattern from the index patient of family C149 (red) and from control DNA (blue) plotted in one figure for easy comparison. MLH1 peaks are labelled with their exon numbers. Unlabelled peaks represent MSH2 exons and control genes.
Mentions: In MLPA, illustrated in Figure 1AFigure 1

Bottom Line: Thirty-eight germline mutations were detected in 37 (29.4%) of these kindreds, 31 of which have a predicted pathogenic effect.A complete deletion of the MLH1 gene was detected in two families.In addition, it reveals alterations that might escape detection using conventional diagnostic techniques.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Genetics and Human Genetics, Cancer Family Clinic, VU University Medical Center, 1007 MB Amsterdam, The Netherlands. jjp.gille@vumc.nl

Show MeSH
Related in: MedlinePlus