Population and segregation data on 17 Y-STRs:: results of a GEP-ISFG collaborative study

被引:29
|
作者
Sanchez-Diz, Paula [1 ]
Alves, Cintia [2 ]
Carvalho, Elizeu [3 ]
Carvalho, Monica [4 ]
Espinheira, Rosa [5 ]
Garcia, Oscar [6 ]
Pinheiro, M. Fatima [7 ]
Pontes, Lurdes [7 ]
Porto, M. Joao [4 ]
Santapa, Oscar [8 ]
Silva, Claudia [5 ]
Sumita, Denilce [9 ]
Valente, Sergio [8 ]
Whittle, Martin [9 ]
Yurrebaso, Inaki [6 ]
Carracedo, Angel [1 ]
Amorim, Antonio [2 ,10 ]
Gusmao, Leonor [2 ]
机构
[1] Univ Santiago de Compostela, Inst Med Legale, Santiago De Compostela 15782, A Coruna, Spain
[2] Univ Porto, Inst Mol Pathol & Immunol, IPATIMUP, P-4200465 Oporto, Portugal
[3] Univ Estado Rio de Janeiro, Inst Biol, DNA Diagnost Lab, BR-20550011 Rio De Janeiro, Brazil
[4] Inst Legal Med, Coimbra, Portugal
[5] Univ Lisbon, Fac Med, Inst Nacl Med Legal, Serv Genet Forense, P-1699 Lisbon, Portugal
[6] Area Lab Ertzaintza, Secc Genet Forense, Bizkaia, Spain
[7] Delegacao Porto Inst Nacl Med Legal, Oporto, Portugal
[8] Hosp Dr CG Durand, Banco Nacl Datos Genet, Buenos Aires, DF, Argentina
[9] Genom Engn Mol Ltda, Sao Paulo, Brazil
[10] Univ Porto, Fac Ciencias, P-4100 Oporto, Portugal
关键词
Y-chromosome haplotypes; STRs; AmpFlSTR YFiler kit; mutation rates;
D O I
10.1007/s00414-008-0265-z
中图分类号
DF [法律]; D9 [法律]; R [医药、卫生];
学科分类号
0301 ; 10 ;
摘要
A collaborative work was carried out by the Spanish and Portuguese International Society for Forensic Genetics Working Group in order to extend the existing data on Y-short tandem repeat (STR) mutations at the 17 Y chromosome STR loci included in the AmpFlSTR YFiler kit (Applied Biosystems): DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and GATA H4.1. In a sample of 701 father/son pairs, 26 mutations were observed among 11,917 allele transfers across the 17 loci. After summing previously reported mutation data with our sample, mutation rates varied between 4.25 x 10(-4) (95% CI 0.05 x 10(-3)-1.53 x 10(-3)) at DYS438 and 6.36 x 10(-3) (95% CI 2.75 x 10(-3)-12.49 x 10(-3)) at DYS458. All mutations were single step, and mutations in the same father/son pair were found twice.
引用
收藏
页码:529 / 533
页数:5
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