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H.J. Muller

H.J. Muller. T. Dobzhansky. Mutation Rates at Human STR Loci, Measured in Paternity Tests STR System Maternal Meioses (%) Paternal Meioses (%) TH01 5/42100 (0.01) 12/74426 (0.02) TPOX 2/28766 (0.01) 10/45374 (0.02) VWA 20/58839 (0.03) 851/250131 (0.34)

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H.J. Muller

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  1. H.J. Muller

  2. T. Dobzhansky

  3. Mutation Rates at Human STR Loci, Measured in Paternity Tests STR SystemMaternal Meioses (%)Paternal Meioses (%) TH01 5/42100 (0.01) 12/74426 (0.02) TPOX 2/28766 (0.01) 10/45374 (0.02) VWA 20/58839 (0.03) 851/250131 (0.34) D3S1358 0/4889 (<0.02) 9/8029 (0.11) D8S1179 5/6672 (0.07) 29/10952 (0.26) D13S317 33/59500 (0.06) 106/69598 (0.15)

  4. Allele frequencies at an STR locus near G6PD in African and Mediterranean populations Allele from Tishkoff et al. Science 293:455-462, 2001

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

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

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

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

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

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

  11. Recurrence Risk in Relatives of an Affected Proband Trait Category of RelativeSchizophreniaMed School Attendance Parents 14.1% 11.1% Siblings 21.9% 10.6% Uncles, Aunts 2.1% 2.5% Unrelated 0.8% 0.2%

  12. Disease Susceptibility in Monozygotic and Dizygotic Twins Concordance Disease “Population”MZDZ Tuberculosis Germany 65 25 USA 62 18 UK 32 14 Leprosy India 52 22 H. pylori Sweden 81 63 Poliomyelitis USA 36 6 Hepatitis B Taiwan 35 4

  13. Three SNPs define a haplotype associated with disease risk

  14. CAPN10 Haplotype Frequencies in Human Populations HaplotypeMexAmFinlandGermanCh.Am.Jp.Am.PimaZapoteca A G - 3x - C 0.32 0.29 0.42 0.56 0.56 0.36 0.17 B G - 2x - T 0.23 0.03 0.03 0.31 0.25 0.29 0.24 C A - 3x - C 0.27 0.32 0.29 0.06 0.04 0.22 0.52

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