Skip to main content
Top
Published in: International Journal of Legal Medicine 3/2007

01-05-2007 | Short Communication

Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci

Authors: Patricia Mariana Domingues, Leonor Gusmão, Dayse Aparecida da Silva, António Amorim, Rinaldo W. Pereira, Elizeu F. de Carvalho

Published in: International Journal of Legal Medicine | Issue 3/2007

Login to get access

Abstract

A male sample of 135 African descendents from the Rio de Janeiro population were typed for the 12 Y-chromosome short tandem repeat (STR) loci included in the PowerPlex Y System. A high haplotype diversity was observed (0.9971), with 91% of haplotypes being unique, demonstrating the usefulness and informative power of this Y-STR set in male lineage identification. Samples with shared haplotypes were additionally typed with the Yfiler kit, which includes five extra markers. The haplotype diversity when using the 17-Yfiler loci increased to (0.9998) with 97% unique haplotypes. The same set of Y-STRs was also typed in 135 father/son pairs and three single-step mutations were observed: one at DYS19 and two at DYS385. Genetic distance analysis showed highly significant differences in all pairwise comparisons between this sample of African descendents and the general population from Rio de Janeiro, as well as with Iberian and African samples from Portugal, Mozambique, Angola and Equatorial Guinea. Comparisons with samples from other regions in Brazil showed that heterogeneity does exist, indicating that a Y-haplotype database for the whole country should take into account the population sub-structure. Moreover, a strong European influence was detected, and thus, a Y-chromosome STR profile proves a rather poor indicator for the ethnic origin of an individual in Rio de Janeiro.
Appendix
Available only for authorised users
Literature
1.
go back to reference Alves C, Gusmão L, Barbosa J, Amorim A (2003) Evaluating the informative power of Y-STRs: a comparative study using European and new African haplotype data. Forensic Sci Int 134:126–133PubMedCrossRef Alves C, Gusmão L, Barbosa J, Amorim A (2003) Evaluating the informative power of Y-STRs: a comparative study using European and new African haplotype data. Forensic Sci Int 134:126–133PubMedCrossRef
2.
go back to reference Arroyo-Pardo E, Gusmão L, López-Parra AM, Baeza C, Mesa MS, Amorim A (2005) Genetic variability of 16 Y-chromosome STRs in a sample from Equatorial Guinea (Central Africa). Forensic Sci Int 149:109–113PubMedCrossRef Arroyo-Pardo E, Gusmão L, López-Parra AM, Baeza C, Mesa MS, Amorim A (2005) Genetic variability of 16 Y-chromosome STRs in a sample from Equatorial Guinea (Central Africa). Forensic Sci Int 149:109–113PubMedCrossRef
3.
go back to reference Ballard DJ, Phillips C, Thacker CR, Robson C, Revoir AP, Syndercombe Court D (2005) A study of mutation rates and the characterization of intermediate, null and duplicated alleles for 13 Y chromosome STRs. Forensic Sci Int 155:65–70PubMedCrossRef Ballard DJ, Phillips C, Thacker CR, Robson C, Revoir AP, Syndercombe Court D (2005) A study of mutation rates and the characterization of intermediate, null and duplicated alleles for 13 Y chromosome STRs. Forensic Sci Int 155:65–70PubMedCrossRef
4.
go back to reference Beleza S (2005) Phylogenetic and demographic history of two human populations revealed by the analysis of two non-recombining segments of the genome: Y-chromosome and mitochondrial DNA. PhD thesis, University of Santiago de Compostela, Spain Beleza S (2005) Phylogenetic and demographic history of two human populations revealed by the analysis of two non-recombining segments of the genome: Y-chromosome and mitochondrial DNA. PhD thesis, University of Santiago de Compostela, Spain
5.
go back to reference Beleza S, Alves C, González-Neira A, Lareu M, Amorim A, Carracedo A, Gusmão L (2003) Extending STR markers in Y chromosome haplotypes. Int J Leg Med 117:27–33 Beleza S, Alves C, González-Neira A, Lareu M, Amorim A, Carracedo A, Gusmão L (2003) Extending STR markers in Y chromosome haplotypes. Int J Leg Med 117:27–33
6.
go back to reference Bianchi NO, Catanesi CI, Bailliet G et al (1998) Characterization of ancestral and derived Y-chromosome haplotypes of New World native populations. Am J Hum Genet 63:1862–1871PubMedCrossRef Bianchi NO, Catanesi CI, Bailliet G et al (1998) Characterization of ancestral and derived Y-chromosome haplotypes of New World native populations. Am J Hum Genet 63:1862–1871PubMedCrossRef
7.
go back to reference Budowle B, Adamowicz M, Aranda XG et al (2005) Twelve short tandem repeat loci Y chromosome haplotypes: genetic analysis on populations residing in North America. Forensic Sci Int 150:1–15PubMedCrossRef Budowle B, Adamowicz M, Aranda XG et al (2005) Twelve short tandem repeat loci Y chromosome haplotypes: genetic analysis on populations residing in North America. Forensic Sci Int 150:1–15PubMedCrossRef
8.
go back to reference Cainé L, Corte-Real F, Vieira DN, Carvalho M, Serra A, Lopes V, Vide MC (2005) Allele frequencies and haplotypes of 8 Y-chromosomal STRs in the Santa Catarina population of southern Brazil. Forensic Sci Int 148:75–79PubMedCrossRef Cainé L, Corte-Real F, Vieira DN, Carvalho M, Serra A, Lopes V, Vide MC (2005) Allele frequencies and haplotypes of 8 Y-chromosomal STRs in the Santa Catarina population of southern Brazil. Forensic Sci Int 148:75–79PubMedCrossRef
9.
go back to reference Dettlaff-Kakol A, Pawlowski R (2002) First Polish DNA “manhunt”—an application of Y-chromosome STRs. Int J Leg Med 116:289–291 Dettlaff-Kakol A, Pawlowski R (2002) First Polish DNA “manhunt”—an application of Y-chromosome STRs. Int J Leg Med 116:289–291
10.
go back to reference Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Human Mutat 23:117–124CrossRef Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Human Mutat 23:117–124CrossRef
11.
go back to reference Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50 Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50
12.
go back to reference Góes ACS, Carvalho EF, Gomes I, da Silva DA, Gil EHF, Amorim A, Gusmão L (2005) Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). Int J Legal Med 119:70–76CrossRef Góes ACS, Carvalho EF, Gomes I, da Silva DA, Gil EHF, Amorim A, Gusmão L (2005) Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). Int J Legal Med 119:70–76CrossRef
13.
go back to reference Grattapaglia D, Kalupniek S, Guimarães CS, Ribeiro MA, Diener PS, Soares CN (2005) Y-chromosome STR haplotype diversity in Brazilian populations. Forensic Sci Int 149:99–107PubMedCrossRef Grattapaglia D, Kalupniek S, Guimarães CS, Ribeiro MA, Diener PS, Soares CN (2005) Y-chromosome STR haplotype diversity in Brazilian populations. Forensic Sci Int 149:99–107PubMedCrossRef
14.
go back to reference Gusmão L, Sánchez-Diz P, Calafell F et al (2005) Mutation rates at Y chromosome specific microsatellites. Human Mutat 26:520–528CrossRef Gusmão L, Sánchez-Diz P, Calafell F et al (2005) Mutation rates at Y chromosome specific microsatellites. Human Mutat 26:520–528CrossRef
15.
go back to reference Gusmão L, Butler JM, Carracedo A et al (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120:191–200PubMedCrossRef Gusmão L, Butler JM, Carracedo A et al (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120:191–200PubMedCrossRef
16.
go back to reference Heyer E, Puymirat J, Dieltjes P, Bakker E, de Knijff P (1997) Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet 6:799–803PubMedCrossRef Heyer E, Puymirat J, Dieltjes P, Bakker E, de Knijff P (1997) Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet 6:799–803PubMedCrossRef
17.
go back to reference Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Leg Med 110:118–124CrossRef Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Leg Med 110:118–124CrossRef
18.
go back to reference Kayser M, Caglià A, Corach D et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Leg Med 110:125–149CrossRef Kayser M, Caglià A, Corach D et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Leg Med 110:125–149CrossRef
19.
go back to reference Kayser M, Roewer L, Hedman M et al (2000) Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 66:1580–1588PubMedCrossRef Kayser M, Roewer L, Hedman M et al (2000) Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 66:1580–1588PubMedCrossRef
20.
go back to reference Kurihara R, Yamamoto T, Uchihi R et al (2004) Mutations in 14 Y-STR loci among Japanese father-son haplotypes. Int J Leg Med 118:125–131CrossRef Kurihara R, Yamamoto T, Uchihi R et al (2004) Mutations in 14 Y-STR loci among Japanese father-son haplotypes. Int J Leg Med 118:125–131CrossRef
21.
go back to reference Miller SA, Dykes DD, Polesky HF (1988) A single salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215PubMedCrossRef Miller SA, Dykes DD, Polesky HF (1988) A single salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215PubMedCrossRef
22.
go back to reference Mulero JJ, Budowle B, Butler JM, Gusmão L (2006) Nomenclature and allele repeat structure update for the Y-STR locus GATA H4. J Forensic Sci 51:694PubMedCrossRef Mulero JJ, Budowle B, Butler JM, Gusmão L (2006) Nomenclature and allele repeat structure update for the Y-STR locus GATA H4. J Forensic Sci 51:694PubMedCrossRef
23.
go back to reference Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York
24.
go back to reference Page RDM (1996) TREEVIEW: an application to display phylogenetic trees on personal computers. Comput Appl Biosci 12:357–358PubMed Page RDM (1996) TREEVIEW: an application to display phylogenetic trees on personal computers. Comput Appl Biosci 12:357–358PubMed
25.
go back to reference Slatkin M (1995) A measure of population subdivision based on microsatellite allele frequencies. Genetics 139:457–462PubMed Slatkin M (1995) A measure of population subdivision based on microsatellite allele frequencies. Genetics 139:457–462PubMed
26.
go back to reference Turrina S, Atzei R, de Leo D (2006) Y-chromosomal STR haplotypes in a northeast Italian population sample using 17plex loci PCR assay. Int J Leg Med 120:56–59CrossRef Turrina S, Atzei R, de Leo D (2006) Y-chromosomal STR haplotypes in a northeast Italian population sample using 17plex loci PCR assay. Int J Leg Med 120:56–59CrossRef
27.
go back to reference Vallinoto AC, Cayres-Vallinoto IM, Ribeiro dos Santos AKA, Zago MA, Santos SE, Guerreiro JF (1999) Heterogeneity of Y chromosome markers among Brazilian Amerindians. Am J Human Biol 11:481–487PubMedCrossRef Vallinoto AC, Cayres-Vallinoto IM, Ribeiro dos Santos AKA, Zago MA, Santos SE, Guerreiro JF (1999) Heterogeneity of Y chromosome markers among Brazilian Amerindians. Am J Human Biol 11:481–487PubMedCrossRef
Metadata
Title
Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci
Authors
Patricia Mariana Domingues
Leonor Gusmão
Dayse Aparecida da Silva
António Amorim
Rinaldo W. Pereira
Elizeu F. de Carvalho
Publication date
01-05-2007
Publisher
Springer-Verlag
Published in
International Journal of Legal Medicine / Issue 3/2007
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-007-0154-x

Other articles of this Issue 3/2007

International Journal of Legal Medicine 3/2007 Go to the issue