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

来源：

INTERNATIONAL JOURNAL OF LEGAL MEDICINE | 2008年 / 122卷 / 06期

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

页码：529 / 533

页数：5

共 41 条

[41] The projected increase in glaucoma due to the aging population in Austria from 2001 to 2031: Results based on data of the Salzburg-Moorfields Collaborative Glaucoma Study
Hitzl, W.
Bunce, C.
Reitsamer, H. A.
Grabner, G.
Hornykewycz, K.
EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2007, 17 (01) : 45 - 52

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