Complex variability of intron 40 of the von Willebrand factor (vWF) gene.
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Complex variability of intron 40 of the von Willebrand factor (vWF) gene. / Hering, Sandra; Augustin, Christa; Edelmann, Jeanett; Heidel, Micaela; Chamaon, Kathrin; Dressler, Jan; Szibor, Reinhard.
In: INT J LEGAL MED, Vol. 122, No. 1, 1, 2008, p. 67-71.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Complex variability of intron 40 of the von Willebrand factor (vWF) gene.
AU - Hering, Sandra
AU - Augustin, Christa
AU - Edelmann, Jeanett
AU - Heidel, Micaela
AU - Chamaon, Kathrin
AU - Dressler, Jan
AU - Szibor, Reinhard
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 122
SP - 67
EP - 71
JO - INT J LEGAL MED
JF - INT J LEGAL MED
SN - 0937-9827
IS - 1
M1 - 1
ER -