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Title: The molecular basis of antithrombin deficiency in Belgian and Dutch families
Authors: Jochmans, K ×
Lissens, W
Seneca, S
Capel, P
Chatelain, B
Meeus, Peter
Osselaer, J C
Peerlinck, Kathelijne
Seghers, J
Slacmeulder, M
Stibbe, J
van de Loo, J
Vermylen, Jozef
Liebaers, I
De Waele, M #
Issue Date: Dec-1998
Series Title: Thrombosis and haemostasis vol:80 issue:3 pages:376-81
Abstract: The molecular basis of hereditary antithrombin (AT) deficiency has been investigated in ten Belgian and three Dutch unrelated kindreds. Eleven of these families had a quantitative or type I AT deficiency, with a history of major venous thromboembolic events in different affected members. In the other two families a qualitative or type II AT deficiency was occasionally diagnosed. DNA studies of the AT gene were performed, using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis, followed by direct sequencing of the seven exons and intron-exon junction regions. Six novel point mutations were identified: four missense, one nonsense mutation and a single nucleotide deletion near the reactive site, causing a frameshift with premature translation termination. In two kindreds the underlying genetic defect was caused by a whole gene deletion, known as a rare cause of AT deficiency. In these cases, Southern blot and polymorphism analysis of different parts of the AT gene proved useful for diagnosis. In another kindred a partial gene deletion spanning 698 basepairs could precisely be determined to a part of intron 3B and exon 4. In two type I and in both type II AT deficient families a previously reported mutation was identified. In all cases, the affected individuals were heterozygous for the genetic defect.
ISSN: 0340-6245
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular and Vascular Biology
Faculty of Medicine - miscellaneous
Medicine Teaching Programs
× corresponding author
# (joint) last author

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