Typing short amplicon binary polymorphisms: Supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains

被引：58

作者：

Romanini, C. ^{[1
]}

Catelli, M. L. ^{[1
]}

Borosky, A. ^{[2
]}

Pereira, R. ^{[4
]}

Romero, M. ^{[1
]}

Salado Puerto, M. ^{[3
]}

Phillips, C. ^{[5
]}

Fondevila, M. ^{[5
]}

Freire, A. ^{[5
]}

Santos, C. ^{[5
]}

Carracedo, A. ^{[5
]}

Lareu, M. V. ^{[5
]}

Gusmao, L. ^{[4
]}

Vullo, C. M. ^{[1
,2
]}

机构：

[1] Forens DNA EAAF Lab, RA-5000 Cordoba, Argentina

[2] Lab Inmunogenet & Diagnost Mol, LIDMO, RA-5000 Cordoba, Argentina

[3] Argentine Forens Anthropol Team, EAAF, Buenos Aires, DF, Argentina

[4] Univ Porto, Inst Mol Pathol & Immunol, IPATIMUP, P-4200465 Oporto, Portugal

[5] Univ Santiago de Compostela, Inst Ciencias Forenses Luis Concheiro, Forens Genet Unit, Santiago De Compostela, Spain

来源：

FORENSIC SCIENCE INTERNATIONAL-GENETICS | 2012年 / 6卷 / 04期

关键词：

SNPs; Indels; STR; Degraded; DNA; Human remains; TANDEM REPEAT LOCI; HUMAN IDENTIFICATION; AUTOSOMAL SNPS; STR AMPLICONS; DNA; MULTIPLEX; AMPLIFICATION; VALIDATION; SYSTEM; LESS;

D O I：

10.1016/j.fsigen.2011.10.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two sets of short amplicon binary markers (SABs): 50 single nucleotide polymorphisms (SNPs) and 38 insertion/deletion polymorphisms (Indels) were used to genotype bones of 35 years "post-mortem". Typing results of these binary markers were compared with those obtained for standard commercial STR and mini-STR DNA typing kits. We observed SAB marker performance to be better compared with conventional STR and mini-STR genotyping in degraded bone sample analysis. Furthermore, additional genetic information provided by these 88 binary markers, 50 SNPs and 38 Indels, combined with classical markers gave very high discrimination power even in severely degraded specimens, with all tested bone samples showing Random Match Probabilities (RMPs) higher than 1019. Missing person and disaster victim identification by kinship analysis is considerably strengthened by the addition of SAB markers since they can be successfully typed on degraded bone samples while adding considerable extra genetic data when poor or incomplete information is available from conventional forensic markers for the analysis of family pedigrees. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

引用

页码：469 / 476

页数：8

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