Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease

Qing Gao, V. C. Thurston, G. H. Vance, S. R. Dlouhy, Marion E. Hodes

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)466-467
Number of pages2
JournalClinical Genetics
Volume68
Issue number5
DOIs
StatePublished - Nov 1 2005

Keywords

  • Gene duplication
  • PCR
  • PMD
  • Real-time

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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