Abstract:
:We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out of 44 (66%) similar individuals. Family studies were carried out on 11 kindreds with von Willebrand disease (vWD). Ten of these families were found to be informative for one or other of the VNTRs or for a combination of data from both VNTRs. This method can be used for antenatal diagnosis and for carrier diagnosis in recessive forms of vWD. It is also useful for tracking the gene associated with vWD in type I families where there may be one or more individuals with a phenotypically uncertain diagnosis.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Cumming AM,Armstrong JG,Pendry K,Burn AM,Wensley RTdoi
10.1007/BF00217122keywords:
subject
Has Abstractpub_date
1992-05-01 00:00:00pages
194-8issue
2eissn
0340-6717issn
1432-1203journal_volume
89pub_type
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