PMID- 15727247
OWN - NLM
STAT- MEDLINE
DCOM- 20050401
LR  - 20061115
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 8
IP  - 3
DP  - 2004 Fall
TI  - Identification of genomic deletions of the APC gene in familial adenomatous 
      polyposis by two independent quantitative techniques.
PG  - 248-56
AB  - Large deletions in the APC (adenomatous polyposis coli) gene, causing familial 
      adenomatous polyposis (FAP), cannot easily be detected by conventional 
      mutation-detection techniques. Therefore, we have developed two independent 
      quantitative methods for the detection of large deletions, encompassing one or 
      more exons, of APC. Multiplex ligation-dependent probe amplification (MLPA) is 
      performed in one reaction for the initial quantification of all APC exon copy 
      numbers. Subsequently, quantitative real-time PCR (QRT-PCR) is used to verify the 
      results obtained in the MLPA reaction. The identification of a deletion of the 
      whole APC gene in a patient with classical FAP is described. The mutation was 
      detected with the two quantitative methods and further verified on chromosomal 
      level by the use of FISH (fluorescence in situ hybridization) on metaphase 
      spreads. Furthermore, a large deletion covering exons 11-13 of the APC gene was 
      detected in two apparently unrelated families. This deletion was further verified 
      and characterized with long-range PCR. The MLPA test ensures a sensitive 
      high-throughput screening for large deletions of the APC gene and can easily be 
      implemented in the diagnostic testing for FAP.
FAU - Meuller, Johan
AU  - Meuller J
AD  - Department of Clinical Genetics, Goteborg University, Sahlgrenska University 
      Hospital/Ostra, Goteborg, Sweden.
FAU - Kanter-Smoler, Gunilla
AU  - Kanter-Smoler G
FAU - Nygren, Anders O H
AU  - Nygren AO
FAU - Errami, Abdellatif
AU  - Errami A
FAU - Gronberg, Henrik
AU  - Gronberg H
FAU - Holmberg, Eva
AU  - Holmberg E
FAU - Bjork, Jan
AU  - Bjork J
FAU - Wahlstrom, Jan
AU  - Wahlstrom J
FAU - Nordling, Margareta
AU  - Nordling M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
RN  - 0 (Adenomatous Polyposis Coli Protein)
SB  - IM
MH  - Adenomatous Polyposis Coli/*diagnosis/genetics
MH  - Adenomatous Polyposis Coli Protein/genetics
MH  - Adult
MH  - DNA Mutational Analysis/*methods
MH  - Exons/genetics
MH  - Female
MH  - *Gene Deletion
MH  - Gene Dosage
MH  - *Genes, APC
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Polymerase Chain Reaction
EDAT- 2005/02/25 09:00
MHDA- 2005/04/02 09:00
CRDT- 2005/02/25 09:00
PHST- 2005/02/25 09:00 [pubmed]
PHST- 2005/04/02 09:00 [medline]
PHST- 2005/02/25 09:00 [entrez]
AID - 10.1089/gte.2004.8.248 [doi]
PST - ppublish
SO  - Genet Test. 2004 Fall;8(3):248-56. doi: 10.1089/gte.2004.8.248.