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Hemophilia B in a 46,XX female probably caused by non-random X inactivation
C Wadelius1, M Lindstedt, M Pigg
1Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Clinical Genetics
|January 1, 1993
Abstract:
A female whose father had severe hemophilia B was found to have a factor IX activity of about 1%. No chromosomal abnormality could be detected and DNA analysis gave no indications of deletions or mutations of Taq I cleavage sites in the factor IX gene. Analysis of the methylation pattern of locus DXS255 indicates that the expression of hemophilia B in this patient is caused by non-random X inactivation.