Complex variability of intron 40 of the von Willebrand factor (vWF) gene

Intron 40 of the von Willebrand factor (vWF) gene exhibits a highly variable region of about 0.65 kb, which contains 5 juxtaposed STRs. We sequenced 0.65 kb amplicons from 68 chromosomes and found 2 frequent indel polymorphisms and 5 SNPs. The 68 chromosomes investigated here presented a total of 47...

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Bibliographic Details
Published in:International journal of legal medicine 2008, Vol.122 (1), p.67-71
Main Authors: Hering, Sandra, Augustin, Christa, Edelmann, Jeanett, Heidel, Micaela, Chamaon, Kathrin, Dressler, Jan, Szibor, Reinhard
Format: Article
Language:English
Subjects:
Chromosomes
Forensic Medicine
Genetic testing
Genomes
Haplotypes
Humans
Introns - genetics
Medical Law
Medicine
Medicine & Public Health
Polymerase Chain Reaction
Polymorphism
Polymorphism, Genetic
Sequence Analysis, DNA
Software
Tandem Repeat Sequences
Technical Note
von Willebrand Factor - genetics
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Summary:Intron 40 of the von Willebrand factor (vWF) gene exhibits a highly variable region of about 0.65 kb, which contains 5 juxtaposed STRs. We sequenced 0.65 kb amplicons from 68 chromosomes and found 2 frequent indel polymorphisms and 5 SNPs. The 68 chromosomes investigated here presented a total of 47 different haplotypes. Regarding the SNP allele distribution in our sample, we arranged our results of the vWF intron 40 into a system of 3 haplotypes, i.e. haplotypes a, b and c. Our review may be valuable in further optimising vWF typing in forensic applications and in avoiding pitfalls. Further attempts to develop sophisticated techniques may soon enable haplotyping using autosomale STR clusters.
ISSN:0937-9827
1437-1596
DOI:10.1007/s00414-006-0149-z