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

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• 作者：C. Romanini^a ; ^{carolacorreo@hotmail.com} ; M.L. Catelli^a ; ^{malaucatelli@yahoo.com.ar} ; A. Borosky^b ; ^{aliboros@yahoo.com} ; R. Pereira^d ; ^{rpereira@ipatimup.pt} ; M. Romero^a ; ^{magdalenaromero@ymail.com} ; M. Salado Puerto^c ; ^{msaladopuerto@gmail.com} ; C. Phillips^e ; ^{lgusmao@ipatimup.pt} ; M. Fondevila^e ; ^{mafondevila@hotmail.com} ; A. Freire^e ; ^{carla.arcanjo.santos@gmail.com} ; C. Santos^e ; ^{ana.freire3@hotmail.com} ; A. Carracedo^e ; ^{angel.carracedo@usc.es} ; M.V. Lareu^e ; ^{mvictoria.lareu@usc.es} ; L. Gusmao^d ; C.M. Vullo^a ; ^b ; ^{cvullo@yahoo.com.ar}
• 关键词：SNPs ; Indels ; STR ; Degraded ; DNA ; Human remains
• 刊名：Forensic Science International ; Genetics
• 出版年：2012
• 期刊代码：18_18724973
• 类别：bio
• 出版时间：July, 2012
• 卷：6
• 期：4
• 页码：469-476
• 文件大小：717 K

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 鈥減ost-mortem鈥? 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.