PMID- 15241798
OWN - NLM
STAT- MEDLINE
DCOM- 20041025
LR  - 20091119
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 24
IP  - 2
DP  - 2004 Aug
TI  - Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe 
      amplification (MLPA) with rapid DNA preparations: comparison with the interphase 
      FISH method.
PG  - 164-71
AB  - Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with 
      liability to pressure palsies (HNPP) are the two most common peripheral 
      neuropathies, with incidences of about 1 in 2,500. Several techniques can be used 
      to detect the typical 1.5-Mb duplication or deletion associated with these 
      respective conditions, but none combines simplicity with high sensitivity. MLPA 
      is a new technique for measuring sequence dosage. We have assessed its 
      performance for the detection of the specific 1.5-Mb duplication/deletion by 
      prospectively testing 50 patients referred with differential diagnoses of CMT or 
      HNPP. Probes were designed to evaluate the TEKT3, PMP22, and COX10 genes within 
      the CMT1A/HNPP region. We have compared the results with our existing 
      fluorescence in situ hybridization (FISH) assay, which was performed in parallel. 
      There was concordance of results for 49 patients. Of note, one patient showed an 
      intermediate multiplex ligation-dependent probe amplification (MLPA) result with 
      an abnormal FISH result, which is consistent with mosaicism. The assay works 
      equally well with either purified DNA or rapid DNA preparations made by direct 
      cell lysis. The use of the latter significantly reduces the cost of the assay. 
      MLPA is a sensitive, specific, robust, and cost-effective technique suitable for 
      fast, high-throughput testing and offers distinct advantages over other testing 
      methods.
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Slater, Howard
AU  - Slater H
AD  - Genetic Health Services Victoria and Murdoch Childrens Research Institute, 
      University of Melbourne Department of Paediatrics, Royal Children's Hospital, 
      Parkville, Australia. howard.slater@ghsv.org.au
FAU - Bruno, Damien
AU  - Bruno D
FAU - Ren, Hua
AU  - Ren H
FAU - La, Phung
AU  - La P
FAU - Burgess, Trent
AU  - Burgess T
FAU - Hills, Louise
AU  - Hills L
FAU - Nouri, Sara
AU  - Nouri S
FAU - Schouten, Jan
AU  - Schouten J
FAU - Choo, K H Andy
AU  - Choo KH
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (CDRT1 protein, human)
RN  - 0 (DNA Probes)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - 0 (Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Charcot-Marie-Tooth Disease/genetics
MH  - DNA/*genetics/*isolation & purification
MH  - DNA Probes/*genetics
MH  - Gene Deletion
MH  - Gene Dosage
MH  - Gene Duplication
MH  - Hereditary Sensory and Motor Neuropathy/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Interphase/*genetics
MH  - Ligase Chain Reaction/*methods
MH  - Myelin Proteins/genetics
MH  - Nucleic Acid Amplification Techniques/*methods
MH  - Prospective Studies
MH  - Proteins/*genetics
EDAT- 2004/07/09 05:00
MHDA- 2004/10/27 09:00
CRDT- 2004/07/09 05:00
PHST- 2004/07/09 05:00 [pubmed]
PHST- 2004/10/27 09:00 [medline]
PHST- 2004/07/09 05:00 [entrez]
AID - 10.1002/humu.20072 [doi]
PST - ppublish
SO  - Hum Mutat. 2004 Aug;24(2):164-71. doi: 10.1002/humu.20072.