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Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome

✍ Scribed by Chan, Vivian; Chan, V. Wan Yin; Yip, Ben; Chim, C. S.; Chan, T. K.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 234 KB
Volume: 58
Category: Article
ISSN: 0361-8609
DOI: 10.1002/(sici)1096-8652(199805)58:1<72::aid-ajh13>3.0.co;2-7

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✦ Synopsis

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.

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## Communicated by William S. Sly Hunter disease is an X-linked recessive mucopolysaccharide storage disorder caused by iduronate-2sulfatase deficiency and is rare in females. We describe here findings in a girl with Hunter disease of the severe type. She had a normal karyotype but a marked defici