Kinship Analysis with Diallelic SNPs - Experiences with the SNPforID Multiplex in an ISO17025 Accreditated Laboratory

被引:22
作者
Borsting, Claus [1 ]
Mikkelsen, Martin [1 ]
Morling, Niels [1 ]
机构
[1] Univ Copenhagen, Sect Forens Genet, Dept Forens Med, Fac Hlth Sci, DK-2100 Copenhagen, Denmark
关键词
SNP; SNPforID; Forensic genetics; Relationship testing; DNA mixtures; AUTOSOMAL SNPS; PATERNITY ANALYSIS; VALIDATION; ASSAY;
D O I
10.1159/000338957
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background: The mutation rate of single nucleotide polymorphisms (SNPs) is estimated to be 100,000 times lower than that of short tandem repeats (STRs), which makes SNPs very suitable for relationship testing. The SNPforID multiplex assay was the first SNP typing assay that was a real alternative to the commonly used STR kits in kinship and crime case work and the first SNP assay to be validated in a forensic laboratory accredited according to the ISO17025 standard. Methods: A total of 54 crime case samples were typed with the SNPforID multiplex assay. 30 samples from relationship cases were sequenced in selected SNP loci. Results: It was demonstrated that mixtures were easily detected with the SNPforID assay by analyzing the signal strengths of the detected alleles. Unusual imbalances in signal strengths that were observed in a few individuals could be explained by unexpected SNPs in one of the primer binding sites. A complicated relationship case with four closely related individuals is presented. Conclusion: Mixtures can be detected with bi-allelic SNPs. The SNPforID assay is a very useful supplement to the STR kits in relationship testing.
引用
收藏
页码:195 / 201
页数:7
相关论文
共 31 条
[1]   The SNPforID browser:: an online tool for query and display of frequency data from the SNPforID project [J].
Amigo, Jorge ;
Phillips, Christopher ;
Lareu, Maviky ;
Carracedo, Angel .
INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2008, 122 (05) :435-440
[2]   Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications [J].
Ballantyne, Kaye N. ;
Goedbloed, Miriam ;
Fang, Rixun ;
Schaap, Onno ;
Lao, Oscar ;
Wollstein, Andreas ;
Choi, Ying ;
van Duijn, Kate ;
Vermeulen, Mark ;
Brauer, Silke ;
Decorte, Ronny ;
Poetsch, Micaela ;
von Wurmb-Schwark, Nicole ;
de Knijff, Peter ;
Labuda, Damian ;
Vezina, Helene ;
Knoblauch, Hans ;
Lessig, Ruediger ;
Roewer, Lutz ;
Ploski, Rafal ;
Dobosz, Tadeusz ;
Henke, Lotte ;
Henke, Juegen ;
Furtado, Manohar R. ;
Kayser, Manfred .
AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (03) :341-353
[3]  
Borsting C., 2007, PCR METHOD EXPRESS S, P123
[4]   Validation of a single nucleotide polymorphism (SNP) typing assay with 49 SNPs for forensic genetic testing in a laboratory accredited according to the ISO 17025 standard [J].
Borsting, Claus ;
Rockenbauer, Eszter ;
Morling, Niels .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2009, 4 (01) :34-42
[5]   Reinvestigations of six unusual paternity cases by typing of autosomal single-nucleotide polymorphisms [J].
Borsting, Claus ;
Morling, Niels .
TRANSFUSION, 2012, 52 (02) :425-430
[6]   Mutations and/or close relatives? Six case work examples where 49 autosomal SNPs were used as supplementary markers [J].
Borsting, Claus ;
Morling, Niels .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2011, 5 (03) :236-241
[7]   Performance of the SNPforID 52 SNP-plex assay in paternity testing [J].
Borsting, Claus ;
Sanchez, Juan J. ;
Hansen, Hanna E. ;
Hansen, Anders J. ;
Bruun, Hanne Q. ;
Morling, Niels .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2008, 2 (04) :292-300
[8]   Forensically relevant SNP classes [J].
Budowle, Bruce ;
van Daal, Angela .
BIOTECHNIQUES, 2008, 44 (05) :603-+
[9]   STRs vs. SNPs: Thoughts on the future of forensic DNA testing [J].
Butler J.M. ;
Coble M.D. ;
Vallone P.M. .
Forensic Science, Medicine, and Pathology, 2007, 3 (3) :200-205
[10]   Analysis and interpretation of mixed forensic stains using DNA STR profiling [J].
Clayton, TM ;
Whitaker, JP ;
Sparkes, R ;
Gill, P .
FORENSIC SCIENCE INTERNATIONAL, 1998, 91 (01) :55-70