PMID- 18428396
OWN - NLM
STAT- MEDLINE
DCOM- 20080605
LR  - 20220317
IS  - 1934-8258 (Electronic)
IS  - 1934-8258 (Linking)
VI  - Chapter 7
DP  - 2006 Nov
TI  - MLPA and MAPH: sensitive detection of deletions and duplications.
PG  - Unit 7.14
LID - 10.1002/0471142905.hg0714s51 [doi]
AB  - The detection of quantitative changes in genomic DNA, i.e., deletions and 
      duplications or so called Copy Number Variants (CNV), is an important element of 
      a complete mutation screening strategy. However, because of practical 
      difficulties, screening for quantitative changes in genomic DNA is often ignored. 
      Hitherto, the techniques available were technically challenging and laborious and 
      thus too costly to be applied on a routine basis. The development of MAPH 
      (Multiplex Amplifiable Probe Hybridization) and more recently MLPA (Multiplex 
      Ligation-dependent Probe Amplification) have revived interest in the detection of 
      deletions and duplications, primarily due to the simplicity and flexibility of 
      these two approaches. Compared to previous technologies, e.g., Southern blotting, 
      fluorescence in situ hybridization (FISH), quantitative PCR (qPCR), and 
      breakpoint PCR, they have some clear advantages, including high resolution, high 
      throughput, amenability to multiplexing, and simplicity.
FAU - den Dunnen, Johan T
AU  - den Dunnen JT
AD  - Human and Clinical Genetics, Leiden University Medical Center, Leiden, The 
      Netherlands.
FAU - White, Stefan J
AU  - White SJ
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Curr Protoc Hum Genet
JT  - Current protocols in human genetics
JID - 101287858
RN  - 0 (DNA Probes)
SB  - IM
MH  - *Chromosome Deletion
MH  - *DNA Probes
MH  - *Gene Deletion
MH  - *Gene Duplication
MH  - Humans
MH  - *Molecular Probe Techniques
MH  - Nucleic Acid Amplification Techniques/*methods
MH  - Nucleic Acid Hybridization/*methods
RF  - 30
EDAT- 2008/04/23 09:00
MHDA- 2008/06/06 09:00
CRDT- 2008/04/23 09:00
PHST- 2008/04/23 09:00 [pubmed]
PHST- 2008/06/06 09:00 [medline]
PHST- 2008/04/23 09:00 [entrez]
AID - 10.1002/0471142905.hg0714s51 [doi]
PST - ppublish
SO  - Curr Protoc Hum Genet. 2006 Nov;Chapter 7:Unit 7.14. doi: 
      10.1002/0471142905.hg0714s51.