PMID- 16207216
OWN - NLM
STAT- MEDLINE
DCOM- 20051213
LR  - 20091119
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 68
IP  - 5
DP  - 2005 Nov
TI  - Genetic diagnosis of PLP gene duplications/deletions in patients with 
      Pelizaeus-Merzbacher disease.
PG  - 466-7
AB  - Genetic diagnosis of PLP gene duplications/deletions in patients with 
      Pelizaeus-Merzbacher disease.PMD is an X-linked recessive disorder due to a 
      proteolipid protein (PLP) deficiency. Duplications of PLP gene were shown to be 
      the principle cause of the disorder, accounting for an estimated 50-70% of cases. 
      To define a simple and reliable method for genetic diagnosis of PMD, a group of 
      42 patients with clinical manifestation of PMD was analyzed by means of real-time 
      quantitative PCR. Parallel fluorescence in situ hybridization (FISH) analysis was 
      performed on the same group of patients. Real-time PCR found seventeen samples 
      had increased gene dosage, whereas FISH detected sixteen duplicated samples. Both 
      methods identified a sample with PLP gene deletion. Our results indicate that 
      real-time PCR is a sensitive and reliable method for the detection of gene 
      duplications/deletions. We further discussed the advantages and limitations of 
      each method in clinical diagnosis of PMD.
FAU - Gao, Q
AU  - Gao Q
AD  - Department of Medical and Molecular Genetics, Indiana University School of 
      Medicine, Indianapolis, IN, USA. qinggao10@hotmail.com
FAU - Thurston, V C
AU  - Thurston VC
FAU - Vance, G H
AU  - Vance GH
FAU - Dlouhy, S R
AU  - Dlouhy SR
FAU - Hodes, M E
AU  - Hodes ME
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - DNA Mutational Analysis/methods
MH  - *Gene Deletion
MH  - Gene Dosage
MH  - *Gene Duplication
MH  - Genetic Testing/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pelizaeus-Merzbacher Disease/diagnosis/*genetics
MH  - Polymerase Chain Reaction
EDAT- 2005/10/07 09:00
MHDA- 2005/12/15 09:00
CRDT- 2005/10/07 09:00
PHST- 2005/10/07 09:00 [pubmed]
PHST- 2005/12/15 09:00 [medline]
PHST- 2005/10/07 09:00 [entrez]
AID - CGE522 [pii]
AID - 10.1111/j.1399-0004.2005.00522.x [doi]
PST - ppublish
SO  - Clin Genet. 2005 Nov;68(5):466-7. doi: 10.1111/j.1399-0004.2005.00522.x.