| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-68 |
Sentence |
denotes |
Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH. |
| T2 |
69-80 |
Sentence |
denotes |
BACKGROUND: |
| T3 |
81-284 |
Sentence |
denotes |
Exonic 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. |
| T4 |
285-290 |
Sentence |
denotes |
AIMS: |
| T5 |
291-467 |
Sentence |
denotes |
We 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. |
| T6 |
468-476 |
Sentence |
denotes |
METHODS: |
| T7 |
477-703 |
Sentence |
denotes |
We 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. |
| T8 |
704-712 |
Sentence |
denotes |
RESULTS: |
| T9 |
713-884 |
Sentence |
denotes |
We 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. |
| T10 |
885-1081 |
Sentence |
denotes |
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. |
| T11 |
1082-1182 |
Sentence |
denotes |
CONCLUSIONS: MAPH can detect exonic copy number changes in MLH1 and MSH2 in DNA from HNPCC patients. |
| T12 |
1183-1378 |
Sentence |
denotes |
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. |
