title: Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B.
abstract: 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).
authors.affiliation: Molecular Biology Laboratory, American Hospital of Paris, Neully, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Costa
authors.forename: P
authors.initials: P
authors.lastname: Ernault
authors.forename: D
authors.initials: D
authors.lastname: Vidaud
authors.forename: M
authors.initials: M
authors.lastname: Vidaud
authors.forename: D
authors.initials: D
authors.lastname: Meyer
authors.forename: J M
authors.initials: JM
authors.lastname: Lavergne
mesh_terms: D018389:Codon, Nonsense; D004252:DNA Mutational Analysis / Q000191:economics / Q000295:instrumentation / Q000379:methods; D005164:Factor IX / Q000235:genetics; D016368:Frameshift Mutation; D017353:Gene Deletion; D005820:Genetic Testing / Q000191:economics / Q000295:instrumentation / Q000379:methods*; D002836:Hemophilia B / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000295:instrumentation / Q000379:methods* / Q000592:standards; D011110:Polymorphism, Genetic
chemical_list: D018389:Codon, Nonsense; D005164:Factor IX