Multiplex Ligation-Dependent Probe Amplification for Rapid Detection of Proteolipid Protein 1 Gene Duplications and Deletions in Affected Males and Carrier Females with Pelizaeus–Merzbacher Disease | Zendy

Ilka Warshawsky | Zendy; Olga Chernova | Zendy; Christian A. Hübner | Zendy; Reinhard Stindl | Zendy; Marco Henneke | Zendy; Andreas Gal | Zendy; Marvin R. Natowicz | Zendy

Open Access

Multiplex Ligation-Dependent Probe Amplification for Rapid Detection of Proteolipid Protein 1 Gene Duplications and Deletions in Affected Males and Carrier Females with Pelizaeus–Merzbacher Disease

Author(s) -

Ilka Warshawsky,

Olga Chernova,

Christian A. Hübner,

Reinhard Stindl,

Marco Henneke,

Andreas Gal,

Marvin R. Natowicz

Publication year - 2006

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2006.067967

Subject(s) - multiplex ligation dependent probe amplification , gene duplication , biology , exon , genetics , gene , gene dosage , multiplex , microbiology and biotechnology , tandem exon duplication , gene expression

Pelizaeus-Merzbacher disease is a rare X-linked neurodegenerative disorder caused by sequence variations in the proteolipid protein 1 gene (PLP1). PLP1 gene duplications account for approximately 50%-75% of cases and point variations for approximately 15%-20% of cases; deletions and insertions occur infrequently. We used multiplex ligation-dependent probe amplification (MLPA) to detect PLP1 gene alterations, especially gene duplications and deletions.

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