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Hemophilia B in a female carrier due to skewed inactivation of the normal X‐chromosome
Author(s) -
Chan Vivian,
Chan V. Wan Yin,
Yip Ben,
Chim C. S.,
Chan T. K.
Publication year - 1998
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(199805)58:1<72::aid-ajh13>3.0.co;2-7
Subject(s) - missense mutation , skewed x inactivation , x inactivation , genetics , x chromosome , gene , phenotype , mutation , allele , biology , microbiology and biotechnology
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. Am. J. Hematol. 58:72–76, 1998. © 1998 Wiley‐Liss, Inc.