Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B

A method using multiplex PCR followed by cycle-sequencing has been developed to detect mutations in the FIX gene. The procedure was evaluated in 45 severe or mild haemophilia B patients from 45 unrelated families. At least one deleterious mutation was identified in every haemophiliac demonstrating t...

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Bibliographic Details
Published inThrombosis and haemostasis Vol. 83; no. 2; p. 244
Main Authors Costa, J M, Ernault, P, Vidaud, D, Vidaud, M, Meyer, D, Lavergne, J M
Format Journal Article
LanguageEnglish
Published Germany 01.02.2000
Subjects
Codon, Nonsense
DNA Mutational Analysis - economics
DNA Mutational Analysis - instrumentation
DNA Mutational Analysis - methods
Factor IX - genetics
Frameshift Mutation
Gene Deletion
Genetic Testing - economics
Genetic Testing - instrumentation
Genetic Testing - methods
Hemophilia B - genetics
Humans
Mutation, Missense
Point Mutation
Polymerase Chain Reaction - instrumentation
Polymerase Chain Reaction - methods
Polymerase Chain Reaction - standards
Polymorphism, Genetic
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Summary:A method using multiplex PCR followed by cycle-sequencing has been developed to detect mutations in the FIX gene. The procedure was evaluated in 45 severe or mild haemophilia B patients from 45 unrelated families. At least one deleterious mutation was identified in every haemophiliac demonstrating the efficiency of the method. Furthermore the described procedure offers many advantages compared to other screening detection methods: it is fast (less than 48 h), simple (partly automated) and of relatively low cost (it requires only one PCR).
ISSN:0340-6245
DOI:10.1055/s-0037-1613794