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Heteroduplex analysis in hemophilia B: Detection of two novel factor IX gene mutations
Author(s) -
Driscoll M. Catherine,
Chu Agnes,
Hilgartner Margaret W.
Publication year - 1996
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199604)51:4<324::aid-ajh13>3.0.co;2-e
Subject(s) - heteroduplex , factor ix , genetics , gene , mutation , medicine , biology
Heteroduplex analysis of polymerase chain reaction (PCR)‐amplified factor IX (FIX) sequences in eight hemophilia B pedigrees localized the causative hemophilia mutation to a single exon in each case. Subsequent PCR‐based direct DNA sequence analysis identified two novel FIX mutations and six recurrent mutations. Three of the eight pedigrees represent sporadic hemophilia B, and direct mutation analysis facilitated hemophilia carrier diagnosis in each case. © 1996 Wiley‐Liss, Inc.