Length and repeat-sequence variation in 58 STRs and 94 SNPs in two Spanish populations

被引:32
作者
Casals, Ferran [1 ]
Anglada, Roger [1 ]
Bonet, Nuria [1 ]
Rasal, Raquel [1 ]
van der Gaag, Kristiaan J. [2 ]
Hoogenboom, Jerry [2 ]
Sole-Morata, Neus [3 ]
Comas, David [3 ]
Calafell, Francesc [3 ]
机构
[1] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Genom Core Facil, Parc Recerca Biomed Barcelona, Barcelona 08003, Catalonia, Spain
[2] Netherlands Forens Inst, Div Biol Traces, Laan Ypenburg 6, NL-2497 GB The Hague, Netherlands
[3] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Inst Biol Evolut UPF CSIC, Barcelona 08003, Catalonia, Spain
关键词
Massive parallel sequencing; Repeat sequence-based alleles; Roma; Catalans; SIGNATURE PREP KIT; FORENSIC GENOMICS SYSTEM; YAVAPAI NATIVE-AMERICANS; HISTORY; LOCI;
D O I
10.1016/j.fsigen.2017.06.006
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We have genotyped the 58 STRs (27 autosomal, 24 Y-STRs and 7 X-STRs) and 94 autosomal SNPs in Illumina ForenSeq (TM) Primer Mix A in 88 Spanish Roma (Gypsy) samples and 143 Catalans. Since this platform is based in massive parallel sequencing, we have used simple R scripts to uncover the sequence variation in the repeat region. Thus, we have found, across 58 STRs, 541 length-based alleles, which, after considering repeat-sequence variation, became 804 different alleles. All loci in both populations were in Hardy-Weinberg equilibrium. F-ST between both populations was 0.0178 for autosomal SNPs, 0.0146 for autosomal STRs, 0.0101 for X-STRs and 0.1866 for Y-STRs. Combined a priori statistics showed quite large; for instance, pooling all the autosomal loci, the a priori probabilities of discriminating a suspect become 1 - (2.3 x 10(-70)) and 1 - (5.9 x 10(-73)), for Roma and Catalans respectively, and the chances of excluding a false father in a trio are 1 - (2.6 x 10(-20)) and 1 - (2.0 x 10(-21)). (C) 2017 Elsevier B.V. All rights reserved.
引用
收藏
页码:66 / 70
页数:5
相关论文
共 17 条
[1]   An assessment of a massively parallel sequencing approach for the identification of individuals from mass graves of the Spanish Civil War (1936-1939) [J].
Calafell, Francesc ;
Anglada, Roger ;
Bonet, Nuria ;
Gonzalez-Ruiz, Mercedes ;
Prats-Munoz, Gemma ;
Rasal, Raquel ;
Lalueza-Fox, Carles ;
Bertranpetit, Jaume ;
Malgosa, Assumpcio ;
Casals, Ferran .
ELECTROPHORESIS, 2016, 37 (21) :2841-2847
[2]   Evaluation of the Illumina® Beta Version ForenSeq™ DNA Signature Prep Kit for use in genetic profiling [J].
Churchill, Jennifer D. ;
Schmedes, Sarah E. ;
King, Jonathan L. ;
Budowle, Bruce .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2016, 20 :20-29
[3]   Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows [J].
Excoffier, Laurent ;
Lischer, Heidi E. L. .
MOLECULAR ECOLOGY RESOURCES, 2010, 10 (03) :564-567
[4]   Origins and divergence of the Roma (Gypsies) [J].
Gresham, D ;
Morar, B ;
Underhill, PA ;
Passarino, G ;
Lin, AA ;
Wise, C ;
Angelicheva, D ;
Calafell, F ;
Oefner, PJ ;
Shen, PD ;
Tournev, I ;
de Pablo, R ;
Kucinskas, V ;
Perez-Lezaun, A ;
Marushiakova, E ;
Popov, V ;
Kalaydjieva, L .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1314-1331
[5]   A perspective on the history of the Iberian gypsies provided by phylogeographic analysis of Y-chromosome lineages [J].
Gusmao, A. ;
Gusmao, Leonor ;
Gomes, V. ;
Alves, C. ;
Calafell, F. ;
Amorim, A. ;
Prata, M. J. .
ANNALS OF HUMAN GENETICS, 2008, 72 :215-227
[6]   Developmental validation of the MiSeq FGx Forensic Genomics System for Targeted Next Generation Sequencing in Forensic DNA Casework and Database Laboratories [J].
Jager, Anne C. ;
Alvarez, Michelle L. ;
Davis, Carey P. ;
Guzman, Ernesto ;
Han, Yonmee ;
Way, Lisa ;
Walichiewicz, Paulina ;
Silva, David ;
Nguyen Pham ;
Caves, Glorianna ;
Bruand, Jocelyne ;
Schlesinger, Felix ;
Pond, Stephanie J. K. ;
Varlaro, Joe ;
Stephens, Kathryn M. ;
Holt, Cydne L. .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2017, 28 :52-70
[7]   Performance and concordance of the ForenSeq™ system for autosomal and Y chromosome short tandem repeat sequencing of reference-type specimens [J].
Just, Rebecca S. ;
Moreno, Lilliana I. ;
Smerick, Jill B. ;
Irwin, Jodi A. .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2017, 28 :1-9
[8]   Reconstructing the Population History of European Romani from Genome-wide Data [J].
Mendizabal, Isabel ;
Lao, Oscar ;
Marigorta, Urko M. ;
Wollstein, Andreas ;
Gusmao, Leonor ;
Ferak, Vladimir ;
Ioana, Mihai ;
Jordanova, Albena ;
Kaneva, Radka ;
Kouvatsi, Anastasia ;
Kucinskas, Vaidutis ;
Makukh, Halyna ;
Metspalu, Andres ;
Netea, Mihai G. ;
de Pablo, Rosario ;
Pamjav, Horolma ;
Radojkovic, Dragica ;
Rolleston, Sarah J. H. ;
Sertic, Jadranka ;
Macek, Milan, Jr. ;
Comas, David ;
Kayser, Manfred .
CURRENT BIOLOGY, 2012, 22 (24) :2342-2349
[9]   Reconstructing the Indian Origin and Dispersal of the European Roma: A Maternal Genetic Perspective [J].
Mendizabal, Isabel ;
Valente, Cristina ;
Gusmao, Alfredo ;
Alves, Cintia ;
Gomes, Veronica ;
Goios, Ana ;
Parson, Walther ;
Calafell, Francesc ;
Alvarez, Luis ;
Amorim, Antonio ;
Gusmao, Leonor ;
Comas, David ;
Joao Prata, Maria .
PLOS ONE, 2011, 6 (01)
[10]   Characterization of genetic sequence variation of 58 STR loci in four major population groups [J].
Novroski, Nicole M. M. ;
King, Jonathan L. ;
Churchill, Jennifer D. ;
Seah, Lay Hong ;
Budowle, Bruce .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2016, 25 :214-226