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Instability of repeats of the von Willebrand factor gene variable number tandem repeat sequence in intron 40
Author(s) -
Eikenboom Jeroen C. J.,
Reitsma Pieter H.,
Velden Pieter A.,
Briët Ernest
Publication year - 1993
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1993.tb03114.x
Subject(s) - intron , genetics , variable number tandem repeat , tandem repeat , sequence (biology) , gene , biology , von willebrand factor , computational biology , genotype , immunology , genome , platelet
Summary. The von Willebrand factor gene contains a highly polymorphic variable number tandem repeat sequence (VNTR) in intron 40. We observed the spontaneous mutation to a new length allele. Sequence analysis revealed that the change in length corresponds to one tetranucleotide repeat unit. This observation emphasizes the risk of errors in family studies and prenatal diagnosis due to VNTR instability.