Prenatal diagnosis of Pelizaeus-Merzbacher disease: Detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

Prenatal Diagnosis

Volumn 21, Issue 8, 2001, Pages 668-671

  Regis, Stefano ^a   Filocamo, Mirella ^a   Mazzotti, Raffaella ^a   Cusano, Roberto ^a   Corsolini, Fabio ^a   Bonuccelli, Gloria ^a   Stroppiano, Marina ^a   Gatti, Rosanna ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

Multiplex PCR; Pelizaeus Merzbacher disease; Prenatal diagnosis

Indexed keywords

PROTEOLIPID PROTEIN;

ARTICLE; BLOOD; CHORION VILLUS; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; DNA POLYMORPHISM; FEMALE; GENE AMPLIFICATION; GENE DUPLICATION; GENE SEGREGATION; HUMAN; HUMAN CELL; MALE; PELIZAEUS MERZBACHER DISEASE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CASE-CONTROL STUDIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENE DUPLICATION; HUMANS; MALE; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS;

EID: 0034849594     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.112     Document Type: Article

References (9)

1. The molecular pathogenesis of Pelizaeus-Merzbacher disease
2. Genetics of Pelizaeus-Merzbacher disease
3. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR
4. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
5. Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene
6. Novel nonsense proteolipid protein gene mutation as a case of X-linked spastic paraplegia in twin males
7. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
8. Pelizaeus-Merzbacher disease: Identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH
9. Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of the PLP gene