Detection by denaturing gradient gel electrophoresis of an Arg1689Cys mutation in a Chinese patient with mild hemophilia A.
Chin Med J (Engl)
; 110(2): 96-9, 1997 Feb.
Article
in En
| MEDLINE
| ID: mdl-9594277
ABSTRACT
OBJECTIVE:
To detect gene defects of factor VIII (F VIII) in Chinese hemophilia A patients.METHODS:
3' end of exon 14 of F VIII gene from a mild hemophilia A patient of Chinese origin was amplified by polymerase chain reaction (PCR) and identified mutations by denaturing gradient gel electrophoresis (DGGE) combining with direct sequencing.RESULTS:
An upward shift band was detected by DGGE in W381. Direct sequencing demonstrated a C to T transition resulting in substitution of Arg1689Cys within a thrombin activation site of mature F VIII protein, which created a unique a thrombin activation site of mature F VIII protein, which created a unique PstI site in amplified fragment of F VIII.CONCLUSIONS:
The association of PCR and DGGE can detect a single base substitution; the Arg1689Cys mutation that inhibited activation of F VIII by thrombin is a molecular defect associated with hemophilia A in W381.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Arginine
/
Factor VIII
/
Point Mutation
/
Cysteine
/
Hemophilia A
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
Chin Med J (Engl)
Year:
1997
Document type:
Article
Affiliation country:
China