Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study.
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.
Sánchez-Diz
Paula
P
University of Santiago de Compostela, C/San Francisco, A Coruña, Spain. paulaiml@usc.es
Alves
Cíntia
C
Carvalho
Elizeu
E
Carvalho
Mónica
M
Espinheira
Rosa
R
García
Oscar
O
Pinheiro
M Fátima
MF
Pontes
Lurdes
L
Porto
M João
MJ
Santapa
Oscar
O
Silva
Cláudia
C
Sumita
Denilce
D
Valente
Sérgio
S
Whittle
Martin
M
Yurrebaso
Iñaki
I
Carracedo
Angel
A
Amorim
António
A
Gusmão
Leonor
L
D000293:Adolescent; D000328:Adult; D000368:Aged; D001118:Argentina; D001938:Brazil; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007391:International Cooperation; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010334:Paternity; D016133:Polymerase Chain Reaction; D011174:Portugal; D013030:Spain; D020080:Tandem Repeat Sequences; D055815:Young Adult