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Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion
Author(s) -
Ljung R.,
Green P.,
Sjörin E.,
Giannelli F.,
Nilsson I. M.
Publication year - 1992
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1992.tb00049.x
Subject(s) - haemophilia b , exon , haemophilia a , microbiology and biotechnology , haemophilia , gene , genetics , prenatal diagnosis , mutation , biology , medicine , pregnancy , fetus
Carrier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8‐base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp band of the haemophilia B gene could be separated by electrophoresis of the fragments. The comprehensive data collection at the Haemophilia Centre is of vital importance in the genetic counselling of haemophilia families, and was a crucial step for the successful diagnoses in these sisters.