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Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus–Merzbacher disease *
Author(s) -
Gao Q,
Thurston VC,
Vance GH,
Dlouhy SR,
Hodes ME
Publication year - 2005
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00522.x
Subject(s) - gene duplication , gene , genetics , biology , fluorescence in situ hybridization , gene dosage , proteolipid protein 1 , genetic disorder , microbiology and biotechnology , gene expression , myelin , chromosome , myelin basic protein , neuroscience , central nervous system
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.