The Molecular Genetic Analysis of Hemophilia A : A Directed Search Strategy for the Detection of Point Mutations in the Human Factor VI 11 Gene
نویسندگان
چکیده
A directed-search strategy for point mutations in the factor Vlll gene causing hemophilia A was used to screen eight potentially hypermutable CpG dinucleotides occurring at sites deemed to be of functional importance. Polymerase chain reaction-amplified DNA samples from 793 unrelated individuals with hemophilia A were screened by discriminant oligonucleotide hybridization. Point mutations were identified in 16 patients that were consistent with a model of 5-methylcytosine (5mC) deamination. Four new examples of recurrent mutation were demonstrated at the following codons: 336 (CGA TGA), 372 (CGC TGC), 372 (CGC CAC). and 1689 (CGC TGC).
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A directed-search strategy for point mutations in the factor VIII gene causing hemophilia A was used to screen eight potentially hypermutable CpG dinucleotides occurring at sites deemed to be of functional importance. Polymerase chain reaction-amplified DNA samples from 793 unrelated individuals with hemophilia A were screened by discriminant oligonucleotide hybridization. Point mutations were ...
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