INSTABILITY OF REPEATS OF THE VON-WILLEBRAND FACTOR GENE VARIABLE NUMBER TANDEM REPEAT SEQUENCE IN INTRON-40

Authors
EIKENBOOM JCJ REITSMA PH VANDERVELDEN PA BRIET E
Citation
Jcj. Eikenboom et al., INSTABILITY OF REPEATS OF THE VON-WILLEBRAND FACTOR GENE VARIABLE NUMBER TANDEM REPEAT SEQUENCE IN INTRON-40, British Journal of Haematology, 84(3), 1993, pp. 533-535
Citations number
13
Categorie Soggetti
Hematology
Journal title
British Journal of Haematology → ACNP
ISSN journal
00071048
Volume
84
Issue
3
Year of publication
1993
Pages
533 - 535
Database
ISI
SICI code
0007-1048(1993)84:3<533:IOROTV>2.0.ZU;2-N
Abstract
The von Willebrand factor gene contains a highly polymorphic variable number tandem repeat sequence (VNTR) in intron 40. We observed the spo ntaneous mutation to a new length allele. Sequence analysis revealed t hat the change in length corresponds to one tetranucleotide repeat uni t. This observation emphasizes the risk of errors in family studies an d prenatal diagnosis due to VNTR instability.