TY - JOUR
T1 - Mutation rates at Y chromosome short tandem repeats in Texas populations
AU - Ge, Jianye
AU - Budowle, Bruce
AU - Aranda, Xavier G.
AU - Planz, John V.
AU - Eisenberg, Arthur J.
AU - Chakraborty, Ranajit
N1 - Funding Information:
Data analysis of this study was partially funded by US Public Health Service Research Grant GM41399 from the National Institutes of Health.
PY - 2009/6
Y1 - 2009/6
N2 - Father-son pairs from three populations (African American, Caucasian, and Hispanic) of Texas were typed for the 17 Y STR markers DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS456, DYS458, DYS635, DYS448, and Y GATA H4 using the AmpFlSTR® YfilerTM kit. With 49,578 allele transfers, 102 mutations were detected. One three-step and four two-step mutations were found, and all others (95.1%) were one-step mutations. The number of gains (48) and losses (54) of repeats were nearly similar. The average mutation rate in the total population is 2.1 × 10-3 per locus (95% CI (1.7-2.5) × 10-3). African Americans showed a higher mutation rate (3.0 × 10-3; 95% CI (2.4-4.0) × 10-3) than the Caucasians (1.7 × 10-3; 95% CI (1.1-2.5) × 10-3) and Hispanics (1.5 × 10-3; 95% CI (1.0-2.2) × 10-3), but grouped by repeat-lengths, such differences were not significant. Mutation is correlated with relative length of alleles, i.e., longer alleles are more likely to mutate compared with the shorter ones at the same locus. Mutation rates are also correlated with the absolute number of repeats, namely, alleles with higher number of repeats are more likely to mutate than the shorter ones (p-value = 0.030). Finally, occurrences of none, one, and two mutations over the father-son transmission of alleles were consistent with the assumption of independence of mutation rates across loci.
AB - Father-son pairs from three populations (African American, Caucasian, and Hispanic) of Texas were typed for the 17 Y STR markers DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS456, DYS458, DYS635, DYS448, and Y GATA H4 using the AmpFlSTR® YfilerTM kit. With 49,578 allele transfers, 102 mutations were detected. One three-step and four two-step mutations were found, and all others (95.1%) were one-step mutations. The number of gains (48) and losses (54) of repeats were nearly similar. The average mutation rate in the total population is 2.1 × 10-3 per locus (95% CI (1.7-2.5) × 10-3). African Americans showed a higher mutation rate (3.0 × 10-3; 95% CI (2.4-4.0) × 10-3) than the Caucasians (1.7 × 10-3; 95% CI (1.1-2.5) × 10-3) and Hispanics (1.5 × 10-3; 95% CI (1.0-2.2) × 10-3), but grouped by repeat-lengths, such differences were not significant. Mutation is correlated with relative length of alleles, i.e., longer alleles are more likely to mutate compared with the shorter ones at the same locus. Mutation rates are also correlated with the absolute number of repeats, namely, alleles with higher number of repeats are more likely to mutate than the shorter ones (p-value = 0.030). Finally, occurrences of none, one, and two mutations over the father-son transmission of alleles were consistent with the assumption of independence of mutation rates across loci.
KW - DNA forensics
KW - DNA typing
KW - Mutation rate
KW - Short tandem repeat (STR)
KW - Y chromosome
UR - http://www.scopus.com/inward/record.url?scp=67349226460&partnerID=8YFLogxK
U2 - 10.1016/j.fsigen.2009.01.007
DO - 10.1016/j.fsigen.2009.01.007
M3 - Article
C2 - 19414166
AN - SCOPUS:67349226460
SN - 1872-4973
VL - 3
SP - 179
EP - 184
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
IS - 3
ER -