MLPA and MAPH: sensitive detection of deletions and duplications

Current Protocols in Human Genetics
J T den Dunnen, Stefan J White

Abstract

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.

References

Nov 26, 1998·Neuromuscular Disorders : NMD·C RosenbergJ T Den Dunnen
Dec 22, 1999·Nucleic Acids Research·J A ArmourG Cross
Jan 9, 2004·Expert Review of Molecular Diagnostics·Shuji Ogino, Robert B Wilson
Jul 13, 2004·Nature Genetics·David FredmanAnthony J Brookes
Aug 3, 2004·Nature Genetics·A John IafrateCharles Lee
Dec 14, 2004·Proceedings of the National Academy of Sciences of the United States of America·Michael T BarrettStephen Laderman
May 17, 2005·Nature Genetics·Eray TuzunEvan E Eichler
Jul 21, 2005·European Journal of Human Genetics : EJHG·Tanja LalicJohan T den Dunnen
Oct 26, 2005·Human Molecular Genetics·Lisenka E L M VissersHan G Brunner
Oct 28, 2005·American Journal of Human Genetics·Howard R SlaterGiulia C Kennedy
Aug 19, 2006·Human Mutation·S J WhiteJ T den Dunnen
Sep 29, 2007·Cytogenetic and Genome Research·S J WhiteJ A Veltman

❮ Previous
Next ❯

Citations

Oct 13, 2012·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Lisa M SullivanJaclyn A Biegel
Jul 1, 2009·Genetics and Molecular Biology·Ingrid Petroni EwaldPatricia Ashton-Prolla
Feb 6, 2013·Human Mutation·Malgorzata Marcinkowska-SwojakPiotr Kozlowski
Jan 24, 2015·Molecular Genetics & Genomic Medicine·Christina DiVincenzoJoseph J Higgins
Oct 21, 2009·Annals of Human Genetics·Chia-Cheng HungYi-Ning Su
May 28, 2010·Human Mutation·Tojo NakayamaKazuhiro Yamakawa
May 8, 2018·Current Genetic Medicine Reports·Tamim H Shaikh
Dec 8, 2009·The Journal of Clinical Endocrinology and Metabolism·Sumito DatekiTsutomu Ogata
Jan 3, 2016·Current Protocols in Human Genetics·Thomas W Prior, Narasimhan Nagan
May 6, 2021·International Journal of Molecular Sciences·Vincenza Ylenia CusenzaRaffaele Frazzi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.