Supplementary Table 1: Summary of published STR loci mutation rates
Numb
Total
Average
Chromosom
Reference
Year
Country
Ethnicity
er of
meiotic
mutation
loci
transfers
rate (×10-4)
Autosomal
9
10844
21.21
22
Autosomal
5
16455
6.68
e location
Caucasoid
No. >1No. 1-step
step
1998
Germany/Austria
2
1999
Finland
3
2002
Brazil
Caucasian
Autosomal
9
24224
4
2006
Germany
Caucasian
Autosomal
21
5
2006
Afghanistan
Afghan
Autosomal
6
2006
China
Han
7
2007
Germany
8
2008
US
9
2008
China
10
2009
11
Comments
rate at locus
locus (×10-4)
mutations
1
Min mutation
Max mutation rate at
1 (4%)
(see legend)
(×10-4)
mutations
68.41 SE33
0 TH01
16
3.04 VWA
0 TPOX
9.49
23
34.99 D10S1237
0 D2S1353
b
191315
12.7
243
25.35 VWA
0 TPOX
c
16
11930
15.93
19
67.48 SE33
0 TH01
Autosomal
15
195060
9.02
176
21.67 FGA
0.75 TPOX
Autosomal
14
488
24.59
12
40.98 various
0 various
Mixed
Autosomal
15
4034873
11.39
4540
21.61 FGA
0.60 TH01
Asian
Autosomal
240
287753
7.47
215
Brazil
Autosomal
14
54105
7.95
43
20.43 D18S51
0 TPOX
2009
Brazil
Autosomal
15
30483
16.4
50
57.00 VWA
0 TH01
12
2009
Nigeria
Black
Autosomal
16
6296
15.88
10
42.92 D2S1338
0 TH01
13
2012
Brazil
Caucasian
Autosomal
13
284934
12.46
348
7 (2%)
23 FGA
0.46 TH01
14
2012
Switzerland/Austria
Caucasoid
Autosomal
23
50796
12.8
61
4 (6%)
37.47 SE33
0 TH01
15
2012
China
Han
Autosomal
23
154584
13
189
6 (3%)
34 D13S325
0 TH01
16
2012
Iceland
Caucasian
Autosomal
~250
465588
10.01
466
1%
This study
2012
China/Brazil
Mixed
Autosomal
15
1623378
9.78
1539
48 (3%)
25.46 D18S51
0.22 TH01
17
2000
Germany/Poland
Y
8
4999
28.01
13
1
85.84 DYS390
0 DYS392
18
2004
Norway
Y
9
15894
15.1
22
2
45.30 DYS390
0 DYS392
56 (1%)
a
b
b
d
b
19
2004
Japan
20
2005
Various
21
2005
UK
22
2007
Germany
23
2007
24
Asian
Y
14
2254
22.18
5
Y
17
27029
19.98
54
Mixed
Y
13
2813
46.21
13
Caucasoid
Y
13
15435
20.73
31
Korea
Y
22
9226
39.02
2008
Various
Y
17
11917
25
2009
US
Mixed
Y
17
49578
26
2011
Mixed
Y
110
1
68.73 DYS439
0 DYS461
16.95 DYS385
0 DYS390
68.16 DYS439
0 DYS392
36
189.70 DYS449
0 DYS448
21.82
26
85.59 DYS439
0 DYS392
20.57
98
54.91 DYS458
0 DYS392
1
4
21.2
Supplementary Table 1 legend
Autosomal and Y chromosome mostly tetranucleotide STR mutation rates published by other workers. Comments are: a: high mutation rate for SE33 inflates overall
rate. b: non-standard STR loci analyzed. c: non-standard STR loci ignored for inclusion in this Table. d: 15 standard and 9 non-standard loci. e: derived from pedigree
and population diversity data.
References
1.
Brinkmann B, Klintschar M, Neuhuber F, Hühne J, Rolf B (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet
62:1408–1415
2.
Sajantila A, Lukka M, Syvänen AC (1999) Experimentally observed germline mutations at human micro- and minisatellite loci. Eur J Hum Genet 7:263–266 350
3.
Leopoldino AM, Pena SD (2003) The mutational spectrum of human autosomal tetranucleotide microsatellites. Hum Mutat 21:71–79
4.
Henke L, Henke B (2006) Supplemented data on mutation rates in 33 autosomal short tandem repeat polymorphisms. J Forensic Sci 51:446–447 356
5.
Hohoff C, Schürenkamp M, Börchers T, Eppink M, Brinkmann B (2006) Meiosis study in a population sample from Afghanistan: allele frequencies and mutation rates of 16 STR loci. Int J
Legal Med 120:300–302
6.
Yan J, Liu Y, Tang H, Zhang Q, Huo Z, Hu S, Yu J (2006) Mutations at 17 STR loci in Chinese population. Forensic Sci Int 162:53–54
7.
Becker D, Bender K, Edelmann J, Gotz F, Henke L, Hering S, Hohoff C, Hoppe K, Klintschar M, Muche M, Rolf B, Szibor R, Weirich V, Jung M, Brabetz W (2007) New alleles and
mutational events at 14 STR loci from different German populations. Forensic Sci Int: Genetics 1:232–237
8.
AABB. http://www.aabb.org/sa/facilities/Documents/rtannrpt08.pdf. Accessed 7 February 2013
9.
Amos W, Flint J, Xu X (2008) Heterozygosity increases microsatellite mutation rate, linking it to demographic history. BMC Genet 9:72
e
10.
Andrade ES, Gomes AV, Raposo G, Mauricio-da-Silva L, dos Santos SR (2009) Mutation rates at 14 STR loci in the population from Pernambuco, northeast Brazil. Forensic Sci Int:
Genetics 3:e141–e143
11.
Chula FG, Rodenbusch R, Schumacher S, Grandi T, Michelon CT, Gastaldo AZ, Costi C, Carvalho B, da Silva CM (2009) 15 STR loci frequencies withmutation rates in the population from
Rio Grande do Sul, southern Brazil. Forensic Sci Int: Genetics 3:e35–e38
12.
Hohoff C, Schürenkamp M, Brinkmann B (2009) Meiosis study in a population sample from Nigeria: allele frequencies and mutation rates of 16 STR loci. Int J Legal Med 123:259–261
13.
Mardini AC, Rodenbusch R, Schumacher S, Chula FG, Michelon CT, Gastaldo AZ, Maciel LP, Almeida SE, da Silva CM (2012) Mutation rate estimates for 13 STR loci in a large population
from Rio Grande do Sul, southern Brazil. Int J Legal Med 6:e55–e57
14.
Dauber EM, Kratzer A, Neuhuber F, Parson W, Klintschar M, Bar W, Mayr WR (2012) Germline mutations of STR-alleles include multi-step mutations as defined by sequencing of repeat
and flanking regions. Forensic Sci Int: Genetics 6:381–386
15.
Lu D, Liu Q, Wu W, Zhao H (2012) Mutation analysis of 24 short tandem repeats in Chinese Han population. Int J Legal Med 126:331–335
16.
Sun JX, Helgason A, Masson G, Ebenesersdóttir SS, Li H, Mallick S, Gnerre S, Patterson N, Kong A, Reich D, Stefansson K (2012) A direct characterization of human mutation based on
microsatellites. Nat Genet 44:1161–1165
17.
Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Kruger C, Krawczak M, Nagy M, Dobosz T, Szibor R, De Knijff P, Stoneking M, Sajantila A (2000) Characteristics and
frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 66:1580–1588
18.
Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Hum Mutat 23:117–124
19.
Kurihara R, Yamamoto T, Uchihi R, Li SL, Yoshimoto T, Ohtaki H, Kamiyama K, Katsumata Y (2004) Mutations in 14 Y-STR loci among Japanese father–son haplotypes. Int J Legal Med
118:125–131
20.
Gusmão L, Sánchez-Diz P, Calafell F, Martin P, Alonso CA, Alvarez-Fernandez F, Alves C, Borjas-Fajardo L, Bozzo WR, Bravo ML, Builes JJ, Capilla J, Carvalho M, Castillo C, Catanesi CI,
Corach D, di Lonardo AM, Espinheira R, de Carvalho EF, Farfan MJ, Figueiredo HP, Gomes I, Lojo MM, Marino M, Pinheiro MF, Pontes ML, Prieto V, Ramos-Luis E, Riancho JÁ, Souza
Góes AC, Santapa AO, Sumita DR, Vallejo G, Vidal-Rioja LB, Vide MC, da Silva CI V, Whittle MR, Zabala W, Zarrabeitia MT, Alonso A, Carracedo A, Amorim A (2005) Mutation rates at Y
chromosome specific microsatellites. Hum Mutat 26:520–526
21.
Ballard DJ, Phillips C, Wright CR, Thacker CR, Robson C, Revoir AP, Syndercombe-Court D (2005) A study of mutation rates and the characterisation of intermediate, null and duplicated
alleles for 13 Y chromosome STRs. Forensic Sci Int 155:65–70
22.
Hohoff C, Dewa K, Sibbing U, Hoppe K, Forster P, Brinkmann B (2007) Y-chromosomal microsatellite mutation rates in a population sample from northwestern Germany. Int J Legal Med
121:359–363
23.
Lee HY, Park MJ, Chung U, Lee HY, Yang WI, Cho SH, Shin KJ (2007) Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father–son pairs. Int J Legal Med 121:128–
135
24.
Sánchez-Diz P, Alves C, Carvalho E, Carvalho M, Espinheira R, Garcia O, Pinheiro MF, Pontes L, Porto MJ, Santapa O, Silva C, Sumita D, Valente S, Whittle M, Yurrebaso I, Carracedo A,
Amorim A, Gusmão L (2008) Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study. Int J Legal Med 122:529–533
25.
Ge J, Budowle B, Aranda XG, Planz JV, Eisenberg AJ, Chakraborty R (2009) Mutation rates at Y chromosome short tandem repeats in Texas populations. Forensic Sci Int: Genetics 3:179–
184
26.
Bulgarella C, Navascués M (2011) Mutation rate estimates for 110 Y-chromosome STRs combining population and father–son pair data. Eur J Hum Genet 19:70–75