Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
This study describes the use of cerebral spinal fluid (CSF) and/or urine as source of DNA for mutation analysis combined with multiple displacement amplification. The findings illustrate the opportunities and pitfalls of these methods in the search for identification of the pathogenic mutations in the case that only scarce material is available such as CSF.
Rosenberg
Efraim H
EH
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center (PK 1 X009), 1081 HV Amsterdam, The Netherlands.
Struys
Eduard A
EA
Hyland
Keith
K
Plecko
Barbara
B
Waters
Paula J
PJ
Mercimek-Mahmutoglu
Saadet
S
Stockler-Ipsiroglu
Sylvia
S
Gallagher
Renata C
RC
Scharer
Gunter
G
Van Hove
Johan L K
JL
Jakobs
Cornelis
C
Salomons
Gajja S
GS
D001483:Base Sequence; D004247:DNA / Q000134:cerebrospinal fluid* / Q000235:genetics / Q000652:urine*; D006801:Humans; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*
D004247:DNA