A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

Publication: 2009- : London : Nature Pub. Group
Original Publication: Tokyo : Springer-Verlag, c1998-

Gene Dosage*; Chromatography, High Pressure Liquid/*methods ; Myelin Proteins/*genetics; Base Sequence ; DNA Primers ; Electrophoresis, Capillary ; Humans ; Reproducibility of Results

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are caused by a 1.5-Mb duplication and a deletion at chromosome 17p11.2-12 encompassing the peripheral myelin protein 22 gene (PMP22), respectively. We developed a rapid and reliable detection system for duplications/deletions of the PMP22 gene based on measurement of gene copy number. The method involves amplification of a test locus with unknown copy number and a reference locus of known copy number by multiplex PCR (MP), followed by denaturing high-performance liquid chromatography (DHPLC) or capillary electrophoresis detection to identify single copy changes. Thirty-two patients with CMT1A, 17 patients with HNPP, and 61 unaffected individuals were analyzed. Using the same competitive MP protocol, the measured PMP22 gene dosage revealed concordant results between DHPLC and capillary electrophoresis analysis. The results of the MP/DHPLC or the MP/capillary electrophoresis assay were all confirmed by PCR-restriction fragment length polymorphism analysis. We concluded that the MP/DHPLC assay is an efficient, accurate, and reliable technique for gene dosage determination of the PMP22 gene for CMT1A duplication and HNPP deletion. This technique further extends the application of DHPLC as an alternative method for the measurement of gene amplifications and heterozygous deletions in different genetic diseases.

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0 (DNA Primers)
0 (Myelin Proteins)
0 (PMP22 protein, human)

Date Created: 20060208 Date Completed: 20060424 Latest Revision: 20200209

20240829

10.1007/s10038-005-0350-9

16463004