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Heteroduplex analysis in hemophilia B: Detection of two novel factor IX gene mutations

✍ Scribed by Driscoll, M. Catherine; Chu, Agnes; Hilgartner, Margaret W.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 256 KB
Volume: 51
Category: Article
ISSN: 0361-8609
DOI: 10.1002/(sici)1096-8652(199604)51:4<324::aid-ajh13>3.0.co;2-e

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✦ Synopsis

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 ldentifled 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.

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