Abstract
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.
Keywords
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Article info
Publication history
Published online: February 17, 2009
Accepted:
January 6,
2009
Received in revised form:
December 23,
2008
Received:
July 30,
2008
Identification
Copyright
© 2009 Published by Elsevier Inc.
