Indel markers: Genetic diversity of 38 polymorphisms in Brazilian populations and application in a paternity investigation with post mortem material

被引:27
作者
Manta, Fernanda [1 ]
Caiafa, Alexandre [1 ]
Pereira, Rui [2 ]
Silva, Dayse [1 ]
Amorim, Antonio [2 ,3 ]
Carvalho, Elizeu F. [1 ]
Gusmao, Leonor [2 ]
机构
[1] Univ Estado Rio De Janeiro, Inst Biol, DNA Diagnost Lab, BR-21550013 Rio De Janeiro, RJ, Brazil
[2] Univ Porto, IPATIMUP, Inst Pathol & Mol Immunol, P-4100 Oporto, Portugal
[3] Univ Porto, Fac Sci, P-4100 Oporto, Portugal
关键词
Indel; Human identification; Post-mortem material; Brazil; Rio de Janeiro; Terena; MULTIPLEX; INSERTION;
D O I
10.1016/j.fsigen.2011.12.008
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Aiming to evaluate the usefulness of 38 non-coding bi-allelic autosomal indels in genetic identification and kinship testing, three Brazilian population samples were studied: two from Rio de Janeiro (including a sample of individuals with self-declared African ancestry) and one Native American population of Terena from Mato Grosso do Sul. Based on the observed allele frequencies, parameters of forensic relevance were calculated. The combined power of discrimination of the 38 indels was high in all studied groups (PD >= 0.9999999999997), although slightly lower in Native Americans. Genetic distance analysis showed significant differences between the allele frequencies in the Rio de Janeiro population and those previously reported for Europeans, Africans and Asians explained by its intermediate position between Europeans and Africans. As expected, the Terena sample was significantly different from all the other populations: Brazilians from Rio de Janeiro general population and with self-declared African ancestry, Europeans, Africans and East Asians. Finally, the performance of the 38-indel multiplex assay was tested in post-mortem material with positive results, supporting the use of short amplicon bi-allelic markers as an additional tool to STR analysis when DNA molecules are degraded. (C) 2012 Published by Elsevier Ireland Ltd.
引用
收藏
页码:658 / 661
页数:4
相关论文
共 17 条
[1]   POSTMORTEM STABILITY OF DNA [J].
BAR, W ;
KRATZER, A ;
MACHLER, M ;
SCHMID, W .
FORENSIC SCIENCE INTERNATIONAL, 1988, 39 (01) :59-70
[2]   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
[3]  
Butler JM, 2003, J FORENSIC SCI, V48, P1054
[4]   Publication of population data for forensic purposes [J].
Carracedo, Angel ;
Butler, John M. ;
Gusmao, Leonor ;
Parson, Walther ;
Roewer, Lutz ;
Schneider, Peter M. .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2010, 4 (03) :145-147
[5]   Arlequin (version 3.0): An integrated software package for population genetics data analysis [J].
Excoffier, Laurent ;
Laval, Guillaume ;
Schneider, Stefan .
EVOLUTIONARY BIOINFORMATICS, 2005, 1 :47-50
[6]   X-linked insertion/deletion polymorphisms: forensic applications of a 33-markers panel [J].
Freitas, Natalle S. C. ;
Resque, Rafael L. ;
Ribeiro-Rodrigues, Elzemar M. ;
Guerreiro, Joao F. ;
Santos, Ney P. C. ;
Ribeiro-dos-Santos, Andrea ;
Santos, Sidney .
INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2010, 124 (06) :589-593
[7]   Role of short tandem repeat DNA in forensic casework in the UK - Past, present, and future perspectives [J].
Gill, P .
BIOTECHNIQUES, 2002, 32 (02) :366-+
[8]   An initial map of insertion and deletion (INDEL) variation in the human genome [J].
Mills, Ryan E. ;
Luttig, Christopher T. ;
Larkins, Christine E. ;
Beauchamp, Adam ;
Tsui, Circe ;
Pittard, W. Stephen ;
Devine, Scott E. .
GENOME RESEARCH, 2006, 16 (09) :1182-1190
[9]   Natural genetic variation caused by small insertions and deletions in the human genome [J].
Mills, Ryan E. ;
Pittard, W. Stephen ;
Mullaney, Julienne M. ;
Farooq, Umar ;
Creasy, Todd H. ;
Mahurkar, Anup A. ;
Kemeza, David M. ;
Strassler, Daniel S. ;
Ponting, Chris P. ;
Webber, Caleb ;
Devine, Scott E. .
GENOME RESEARCH, 2011, 21 (06) :830-839
[10]   Quantification of Epigenetic and Genetic 2nd Hits in CDH1 During Hereditary Diffuse Gastric Cancer Syndrome Progression [J].
Oliveira, Carla ;
Sousa, Sonia ;
Pinheiro, Hugo ;
Karam, Rachid ;
Bordeira-Carrico, Renata ;
Senz, Janine ;
Kaurah, Pardeep ;
Carvalho, Joana ;
Pereira, Rui ;
Gusmao, Leonor ;
Wen, Xiaogang ;
Cipriano, Maria Augusta ;
Yokota, Jun ;
Carneiro, Fatima ;
Huntsman, David ;
Seruca, Raquel .
GASTROENTEROLOGY, 2009, 136 (07) :2137-2148