GENEALOGY-DNA-L Archives

Archiver > GENEALOGY-DNA > 2002-11 > 1036504010


From: Patrick Guinness <>
Subject: [DNA] Observed mutation rates / Porto Conference
Date: Tue, 5 Nov 2002 13:46:50 +0000


This is maybe the most useful paper to be presented this week.

PG


O22
Mutations at Y-STR loci: a study of 1767 father-son pairs of Norwegian origin
B. Myhre Dupuy, M. Stenersen, A.G. Flønes and B. Olaisen
Rettsmedisinsk Institutt, Rikshospitalet A2-1001, Gaustadalleen 20,
0027 Oslo, Norway
We present findings of individual mutation rates in 9 Y-STR loci
(DYS19, DYS385, DYS388,
DYS389 I, DYS389 II, DYS390, DYS391, DYS392 and DYS393) in a total of
15 903 male germline
transmissions from father/son pairs of confirmed paternity at five
minisatellite loci which are
commonly applied for paternity testing. A total of 37 mutations were
identified. There was an inter-locus
heterogeneity in mutation rates ranging from 5.7 x 10
-4
to 5.1 x 10
-3
. The overall average mutation
rate was 2.3 x 10
-3
. In one father/son pair, mutations at two Y-STR loci were observed. Of 37
mutations 23 were gains (22 single-step mutations and 1 double-step
mutation) and 12 were single-step
losses. Two mutations in the complex DYS389I/II locus (which consists
of four repeat motifs)
involved changes in two and three motifs respectively. Sequencing
results will be presented and several
potential factors which may contribute to the observed differences in
the evolutionary dynamics of
theses microsatellites will be discussed.

This thread: