Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques.
Haematologica
; 92(4): 550-3, 2007 Apr.
Article
in En
| MEDLINE
| ID: mdl-17488667
Two versions of conformation sensitive gel electrophoresis, fluorescent (F-CSGE) and manual (M-CSGE) techniques, were compared for mutation analysis of the von Willebrand factor gene. 56 PCRs were used to amplify all 52 exons of the gene in seven type 1 von Willebrand disease cases, plus a healthy control. One hundred and ninety-two samples were analyzed on each F-CSGE gel, compared with 40 on M-CSGE. 125 amplicons revealed bandshifts using F-CSGE, but only 101 by M-CSGE. Five mutations were detected by both techniques. F-CSGE detected 45 different polymorphisms whereas M-CSGE detected only 39. F-CSGE is high-throughput and more sensitive than M-CSGE.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Von Willebrand Diseases
/
DNA
/
Von Willebrand Factor
/
DNA Mutational Analysis
/
Heteroduplex Analysis
/
Electrophoresis, Polyacrylamide Gel
/
Nucleic Acid Conformation
Type of study:
Diagnostic_studies
/
Evaluation_studies
Limits:
Humans
Language:
En
Journal:
Haematologica
Year:
2007
Document type:
Article
Country of publication:
Italy