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H.J. Muller. T. Dobzhansky Mutation Rates at Human STR Loci, Measured in Paternity Tests STR SystemMaternal Meioses (%)Paternal Meioses (%) TH015/42100.

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Presentation on theme: "H.J. Muller. T. Dobzhansky Mutation Rates at Human STR Loci, Measured in Paternity Tests STR SystemMaternal Meioses (%)Paternal Meioses (%) TH015/42100."— Presentation transcript:

1 H.J. Muller

2 T. Dobzhansky

3 Mutation Rates at Human STR Loci, Measured in Paternity Tests STR SystemMaternal Meioses (%)Paternal Meioses (%) TH015/42100 (0.01)12/74426 (0.02) TPOX2/28766 (0.01)10/45374 (0.02) VWA20/58839 (0.03)851/250131 (0.34) D3S13580/4889 (<0.02)9/8029 (0.11) D8S11795/6672 (0.07)29/10952 (0.26) D13S31733/59500 (0.06)106/69598 (0.15)

4 Population (N)195198201204207210213216Het Bantu (78)0.170.310.170.350.010.00 0.724 Mende (46)0.090.220.330.370.00 0.698 Temne (36)0.110.140.330.390.030.00 0.706 Ga (46)0.300.170.300.200.020.00 0.751 Tunisian (58)0.120.620.09 0.000.090.00 0.577 Lebanese (43)0.160.630.020.070.000.090.000.020.564 Cypriot (33)0.060.730.060.00 0.120.000.030.445 Allele Allele frequencies at an STR locus near G6PD in African and Mediterranean populations from Tishkoff et al. Science 293:455-462, 2001

5 Genes and SNPs on the human X chromosome (from http://www.hapmap.org)http://www.hapmap.org G6PD

6 SNPs within and near the human G6PD gene (from http://www.hapmap.org)http://www.hapmap.org

7 from SNPs to haplotypes (from http://www.hapmap.org)http://www.hapmap.org

8 (from http://www.hapmap.org)http://www.hapmap.org from haplotypes to LD blocks

9

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11 Evans et al. J Med Genet 17:102-105 (1980) extensive metabolizers poor metabolizers

12 Sachse et al. Am J Hum Genet 60:284-295 (1997) individual value mean & 95% c.i.

13 Recurrence Risk in Relatives of an Affected Proband Trait Category of RelativeSchizophreniaMed School Attendance Parents14.1%11.1% Siblings21.9%10.6% Uncles, Aunts2.1%2.5% Unrelated0.8%0.2%

14 Disease Susceptibility in Monozygotic and Dizygotic Twins Concordance Disease“Population”MZDZ TuberculosisGermany6525 USA6218 UK3214 LeprosyIndia5222 H. pyloriSweden8163 PoliomyelitisUSA366 Hepatitis BTaiwan354

15 Three SNPs define a haplotype associated with disease risk

16 CAPN10 Haplotype Frequencies in Human Populations HaplotypeMexAmFinlandGermanCh.Am.Jp.Am.PimaZapoteca A G - 3x - C0.320.290.420.560.560.360.17 B G - 2x - T0.230.030.030.310.250.290.24 C A - 3x - C0.270.320.290.060.040.220.52


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