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Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease
Author(s) -
Inoue Ken,
Kanai Makoto,
Tanabe Yuzo,
Kubota Takeo,
Kashork Catherine D.,
Wakui Keiko,
Fukushima Yoshimitsu,
Lupski James R.,
Shaffer Lisa G.
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.186
Subject(s) - gene duplication , interphase , prenatal diagnosis , biology , fluorescence in situ hybridization , genetics , fetus , gene , pregnancy , chromosome
A submicroscopic genomic duplication in Xq22.2 that contains the entire proteolipid protein 1 gene ( PLP1 ) is responsible for the majority of Pelizaeus–Merzbacher disease (PMD) patients. We previously developed an interphase FISH assay to screen for PLP1 duplications in PMD patients using peripheral blood and lymphoblastoid cell lines. This assay has been utilized as a clinical diagnostic test in our cytogenetics laboratory. To expand usage of the interphase FISH assay to prenatal diagnosis of PLP1 duplications, we examined three PMD families with PLP1 duplications utilizing aminiotic fluid samples. In two families the FISH assay revealed fetuses with PLP1 duplications, whereas the other fetus showed a normal copy number of PLP1 . Haplotype analyses, as well as an additional FISH analysis using postnatal blood samples, confirmed the results of the prenatal analyses. Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD. Copyright © 2001 John Wiley & Sons, Ltd.