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Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX
Author(s) -
Green P. M.,
Mitchell V. E.,
McGraw A.,
Goldman E.,
Giannelli F.
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020207
Subject(s) - missense mutation , haemophilia b , transversion , factor ix , mutation , biology , asparagine , haemophilia a , genetics , gene , haemophilia , microbiology and biotechnology , amino acid
In the course of analysing mutation in the factor IX gene from 200 haemophilia B patients in Sweden and the UK, we have identified one patient with a prepeptide missense mutation He has severe, antigen negative haemophilia, and complete analysis of his coding sequence reveals a single base transversion (A → T) causing substitution of isoleucine by asparagine at position −30. This change disrupts the hydrophobic core of the prepeptide, a feature which is required for secretion. Thus, haemophilia in this patient is caused by a failure to secrete factor IX from the hepatocytes. © 1993 Wiley‐Liss, Inc.