Pros and cons in the use of SNPs in forensic kinship investigation: a comparative analysis with STRs

被引:91
作者
Amorim, A
Pereira, L
机构
[1] Univ Porto, Inst Patol & Imunol Mol, IPATIMUP, P-4200465 Oporto, Portugal
[2] Univ Porto, Fac Ciencias, P-4099002 Oporto, Portugal
关键词
STR; SNP; kinship; mutation; null allele;
D O I
10.1016/j.forsciint.2004.06.018
中图分类号
DF [法律]; D9 [法律]; R [医药、卫生];
学科分类号
0301 ; 10 ;
摘要
Recent advances in single nucleotide polymorphisms (SNPs) research have raised the possibility that these markers could replace the forensically established short tandem repeats (STRs). In this work, we compare STRs and SNPs applicability for kinship investigation in terms of expected informative content and probability of occurrence of "difficult cases" (when isolated Mendelian incompatibilities between alleged father and child are found). Since SNPs have a much lower mutation rate than STRs, these difficulties were expected to occur less frequently if SNPs were used instead of STRs. The purpose of this paper is to make some simulations allowing the estimation of how often such difficult cases are expected to occur using both types of markers and how serious can be their impact in routine work. Our results demonstrate that a battery based exclusively on SNPs matching the informative power of current STR kits would be prone, if applied to routine paternity investigation, to the occurrence of cases where the statistical evidence would be inconclusive. We infer that the introduction of a SNP based strategy, as a substitute to the now classical STR approach poses statistical problems that must be carefully evaluated. © 2004 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码:17 / 21
页数:5
相关论文
共 12 条
[1]   VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits [J].
Alves, C ;
Amorim, A ;
Gusmao, L ;
Pereira, L .
INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2001, 115 (02) :97-99
[2]  
*AM ASS BLOOD BANK, 2002, ANN REP TEST 2001
[3]  
Amorim A., 1988, ADV FORENSIC HAEMOGE, V2, P603
[4]  
BAUR MP, 1986, AM J HUM GENET, V39, P528
[5]   Mutation rate in human microsatellites:: Influence of the structure and length of the tandem repeat [J].
Brinkmann, B ;
Klintschar, M ;
Neuhuber, F ;
Hühne, J ;
Rolf, B .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (06) :1408-1415
[6]   Validation of the AMPFlSTR® SGM Plus™ system for use in forensic casework [J].
Cotton, EA ;
Allsop, RF ;
Guest, JL ;
Frazier, RRE ;
Koumi, P ;
Callow, IP ;
Seager, A ;
Sparkes, RL .
FORENSIC SCIENCE INTERNATIONAL, 2000, 112 (2-3) :151-161
[7]   An assessment of the utility of single nucleotide polymorphisms (SNPs) for forensic purposes [J].
Gill, P .
INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2001, 114 (4-5) :204-210
[8]   Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases [J].
Kondrashov, AS .
HUMAN MUTATION, 2003, 21 (01) :12-27
[9]   Identification of a D8S1179 primer binding site mutation and the validation of a primer designed to recover null alleles [J].
Leibelt, C ;
Budowle, B ;
Collins, P ;
Daoudi, Y ;
Moretti, T ;
Nunn, G ;
Reeder, D ;
Roby, R .
FORENSIC SCIENCE INTERNATIONAL, 2003, 133 (03) :220-227
[10]   Human SNP variability and mutation rate are higher in regions of high recombination [J].
Lercher, MJ ;
Hurst, LD .
TRENDS IN GENETICS, 2002, 18 (07) :337-340