DNA/CMT 1A Genetic Research from the UK

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1: Expert Rev Mol Diagn 2002 Jul;2(4):370-8

DNA copy number analysis by MAPH: molecular diagnostic applications.

Hollox EJ, Akrami SM, Armour JA.

Institute of Genetics, Queen's Medical Centre, University of Nottingham,

NG7 2UH, UK.

ABSTRACT:

DNA copy number variation is an important cause of genetic disease.

There are several techniques available to detect copy number changes of

various sizes, each with their limitations in resolution and cost. Here

we outline the development of multiplex amplifiable probe hybridization

(MAPH) into a high-throughput diagnostic technique for detecting copy

number variation of almost any size. Its application in testing for

genetic mutations causing diseases, such as familial breast cancer,

Charcot-Marie-Tooth disease Type 1A, Duchenne/Becker muscular dystrophy

and familial colorectal cancer is described, as well as its use in

identifying chromosomal changes in some individuals with mental

retardation. The analysis of the data produced by MAPH is also

considered, along with its potential for automation and development of

microarray-based MAPH.