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

International Journal of Legal Medicine

Volumn 122, Issue 1, 2008, Pages 67-71

  Hering, Sandra ^a   Augustin, Christa ^b   Edelmann, Jeanett ^c   Heidel, Micaela ^a   Chamaon, Kathrin ^d   Dressler, Jan ^a   Szibor, Reinhard ^d  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY OF LEIPZIG   (Germany)

^d OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

Indel polymorphisms; Intron 40; Kinship testing; Short tandem repeats; SNPs; vWF

Indexed keywords

VON WILLEBRAND FACTOR;

AMPLICON; ARTICLE; CHROMOSOME; FORENSIC IDENTIFICATION; GENE; GENE SEQUENCE; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; HUMAN TISSUE; INTRON; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VON WILLEBRAND FACTOR GENE;

HAPLOTYPES; HUMANS; INTRONS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA; TANDEM REPEAT SEQUENCES; VON WILLEBRAND FACTOR;

EID: 37249042237     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-006-0149-z     Document Type: Article

References (28)

1. Alves C, Amorim A, Gusmao L, Pereira L (2001) VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits. Int J Legal Med 115:97-99
2. van Amstel HK, Reitsma PH (1990) Tetranucleotide repeat polymorphism in the vWF gene. Nucleic Acids Res 18:4957
3. Bär W, Brinkmann B, Budowle B et al (1997) DNA Commission of the ISFH DNA recommendations-further report of the DNA Commission of the ISFH regarding the use of short tandem repeat systems. Int J Legal Med 110:175-176
4. Dewa K (1996) Haplotype analysis using two tetrameric loci within the vWF gene: its frequency in Japanese and application in forensic medicine. Nippon Hoigaku Zasshi 50:349-356
5. Foster EA, Jobling MA, Taylor PG, Donnelly P, de Knijff P, Mieremet R, Zerjal T, Tyler-Smith C (1998) Jefferson fathered slave's last child. Nature 396:27-28
6. Haddad AP, Sparrow RL (1997) Instability in the ATCT variable number tandem repeat locus VWF.VNTR I in intron 40 of von Willebrand factor gene. Br J Haematol 98:662-664
7. Haddad AP, Sparrow RL (2001) The short tandem repeat locus VWF2 in intron 40 of the von Willebrand factor gene consists of two polymorphic sub-loci. Forensic Sci Int 119:299-304
8. Hendrickson BC, Leclair B, Forrest S et al (2004) Accurate STR allele designations at the FGA and MA loci despite primer site polymorphisms. J Forensic Sci 49:250-254
9. Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Legal Med 110:118-124
10. Kimpton C, Walton A, Gill P (1992) A further tetranucleotide repeat polymorphism in the vWF gene. Hum Mol Genet 1:287
11. Lazaruk K, Wallin J, Holt C, Nguyen T, Walsh PS (2001) Sequence variation in humans and other primates at six short tandem repeat loci used in forensic identity testing. Forensic Sci Int 119:1-10
12. Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, Alevy YG, Sadler JE (1989) Structure of the gene for human von Willebrand factor. J Biol Chem 264:19514-19527
13. Meissner C, Bruse P, Mueller E, Oehmichen M (2006) A new sensitive short pentaplex (ShoP) PCR for typing of degraded DNA. Forensic Sci Int DOI 10.1016/j.forsciint.2006.04.014
14. Mercier B, Gaucher C, Mazurier C (1991) Characterization of 98 alleles in 105 unrelated individuals in the F8VWF gene. Nucleic Acids Res 19:4800
15. Minaguchi K, Takenaka O (2000) Structural variations of the VWA locus in humans and comparison with non-human primates. Forensic Sci Int 113:9-16
16. Möller A, Meyer E, Brinkmann B (1994) Different types of structural variation in STRs: HumFES/FPS, HumVWA and HumD21S11. Int J Legal Med 106:319-323
17. Peake IR, Bowen D, Bignell P, Liddell MB, Sadler JE, Standen G, Bloom AL (1990) Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene. Blood 76:555-561
18. Pena SD, de Souza KT, de Andrade M, Chakraborty R (1994) Allelic associations of two polymorphic microsatellites in intron 40 of the human von Willebrand factor gene. Proc Natl Acad Sci USA 91:723-727
19. Schmidtke J, Kuhnau W, Wand D, Edelmann J, Szibor R, Krawczak M (2004) Prenatal exclusion without involving the putative fathers of an incestuous father-daughter parenthood. Prenat Diagn 24:662-664
20. Szibor R, Plate I, Krause D (1997) Heteroduplex analysis is a rapid method for detection of suballeles caused by mixed length and sequence variability in STR systems. Adv Forensic Haemog 6:346-348
21. Szibor R, Krawczak M, Hering S, Edelmann J, Kuhlisch E, Krause D (2003) Use of X-linked markers for forensic purposes. Int J Legal Med 117:67-74
22. Szibor R, Hering S, Kuhlisch E, Plate I, Demberger S, Krawczak M, Edelmann J (2005) Haplotyping of STR cluster DXS6801-DXS6809-DXS6789 on Xq21 provides a powerful tool for kinship testing. Int J Legal Med 119:363-369
23. Tamura A, Tsuji H, Nishio H, Suzuki K (1999) Haplotype analysis of a de novo allele at a vWF STR locus using flanking STR loci. Leg Med (Tokyo) 1:188-192
24. Walsh S (1998) Commentary on Kline MC, Jenkins B, Rogers S. Non-amplification of a vWA allele. J Forensic Sci 43:1103-1104
25. Weber JL, David D, Heil J, Fan Y, Zhao C, Marth G (2002) Human diallelic insertion/deletion polymorphisms. Am J Hum Genet 71:854-862
26. Wiegand P, Meyer E, Brinkmann B (2000) Microsatellite structures in the context of human evolution. Electrophoresis 21:889-895
27. Wiegand P, Klein R, Braunschweiger G, Hohoff C, Brinkmann B (2006) Short amplicon STR multiplex for stain typing. Int J Legal Med 120:160-164
28. Yuasa I, Umetsu K, Watanabe G, Nakamura H, Endoh M, Irizawa Y (2004) MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for caucasoids. Int J Legal Med 118:364-366