PMID- 15940694
OWN - NLM
STAT- MEDLINE
DCOM- 20050914
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 136
IP  - 2
DP  - 2005 Jul 15
TI  - Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients 
      with inherited peripheral neuropathies associated with 17p11.2 rearrangements.
PG  - 136-9
AB  - Large genomic duplications and deletions are increasingly recognized as a cause 
      of human disease. Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy 
      with liability to pressure palsy (HNPP) result, respectively, from a duplication 
      or deletion of a 1.5 Mb genomic region in 17p11.2-12, containing the PMP22 gene. 
      In routine diagnostic analysis, CMT1A status is inferred from the detection of an 
      imbalanced dosage of two alleles or the presence of three alleles of a 
      polymorphic marker flanking the PMP22 gene. HNPP is suspected if only one allele 
      is seen, but hemizygosity must be confirmed by analyzing allele segregation in 
      the family or by other techniques such as Southern blotting or fluorescence in 
      situ hybridization (FISH). PCR-based methodologies have also been developed that 
      allow single-step determination of the PMP22 gene copy number, wherein amplicons 
      are typically labeled and/or separated by gel electrophoresis. We describe here a 
      fast and reliable PCR-based method for the diagnosis of CMT1A and HNPP in which 
      the PMP22 gene is co-amplified with a reference gene, and the amplicons are 
      separated according to their size and quantified by DHPLC. Our results suggest 
      that this method for quantifying gene dosage could be applied to other genomic 
      rearrangements.
CI  - Copyright 2005 Wiley-Liss, Inc.
FAU - Naimi, Mourad
AU  - Naimi M
AD  - Departement de Genetique, Cytogenetique et Embryologie, Hopital 
      Pitie-Salpetriere, AP-HP, Paris, France. naimi@unice.fr
FAU - Tardieu, Sandrine
AU  - Tardieu S
FAU - Depienne, Christel
AU  - Depienne C
FAU - Ruberg, Merle
AU  - Ruberg M
FAU - Brice, Alexis
AU  - Brice A
FAU - Dubourg, Odile
AU  - Dubourg O
FAU - Leguern, Eric
AU  - Leguern E
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Charcot-Marie-Tooth Disease/genetics/pathology
MH  - Chromatography, High Pressure Liquid/*methods
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 17/genetics
MH  - DNA/genetics
MH  - Gene Dosage
MH  - Hereditary Sensory and Motor Neuropathy/genetics/pathology
MH  - Humans
MH  - Myelin Proteins/genetics
MH  - Paralysis/genetics/pathology
MH  - Polymerase Chain Reaction
MH  - Prospective Studies
MH  - Reproducibility of Results
EDAT- 2005/06/09 09:00
MHDA- 2005/09/15 09:00
CRDT- 2005/06/09 09:00
PHST- 2005/06/09 09:00 [pubmed]
PHST- 2005/09/15 09:00 [medline]
PHST- 2005/06/09 09:00 [entrez]
AID - 10.1002/ajmg.a.30790 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Jul 15;136(2):136-9. doi: 10.1002/ajmg.a.30790.