Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome.
A novel missense mutation (codon 351, GCT (Ala) --> CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B. She is heterozygous for the FIX mutation inherited from her carrier mother. Analysis of the methyl-sensitive Hpa II sites at the 5' end of the hypoxanthine phosphoribosyltransferase gene showed that skewed inactivation of the X chromosome carrying her normal FIX gene accounted for the hemophilia phenotype.
Chan
V
V
University Department of Medicine, Queen Mary Hospital, Hong Kong.
Chan
V W
VW
Yip
B
B
Chim
C S
CS
Chan
T K
TK
D000328:Adult; D004303:Dosage Compensation, Genetic; D005164:Factor IX / Q000235:genetics; D005260:Female; D002836:Hemophilia B / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D010735:Phosphoglycerate Kinase / Q000235:genetics
D005164:Factor IX; D007041:Hypoxanthine Phosphoribosyltransferase; D010735:Phosphoglycerate Kinase