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)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)

Population (N) 195 198 201 204 207 210 213 216 Het

Bantu (78) 0.17 0.31 0.17 0.35 0.01 0.00 0.00 0.00 0.724

Mende (46) 0.09 0.22 0.33 0.37 0.00 0.00 0.00 0.00 0.698

Temne (36) 0.11 0.14 0.33 0.39 0.03 0.00 0.00 0.00 0.706

Ga (46) 0.30 0.17 0.30 0.20 0.02 0.00 0.00 0.00 0.751

Tunisian (58) 0.12 0.62 0.09 0.09 0.00 0.09 0.00 0.00 0.577

Lebanese (43) 0.16 0.63 0.02 0.07 0.00 0.09 0.00 0.02 0.564

Cypriot (33) 0.06 0.73 0.06 0.00 0.00 0.12 0.00 0.03 0.445

Allele

Allele frequencies at an STR locus near G6PD in Africanand Mediterranean populations

from Tishkoff et al. Science 293:455-462, 2001

Genes and SNPs on the human X chromosome

(from http://www.hapmap.org)

G6PD

http://www.hapmap.org/

SNPs within and near the human G6PD gene



from SNPs to haplotypes




from haplotypes to LD blocks


Evans et al. J Med Genet 17:102-105 (1980)

extensive metabolizers

poor metabolizers

Sachse et al. Am J Hum Genet 60:284-295 (1997)

individual value

mean & 95% c.i.

Recurrence Risk in Relatives of an Affected Proband

Trait

Category of Relative Schizophrenia Med School Attendance

Parents 14.1% 11.1%

Siblings 21.9% 10.6%

Uncles, Aunts 2.1% 2.5%

Unrelated 0.8% 0.2%

Disease Susceptibility in Monozygotic and Dizygotic Twins

Concordance

Disease “Population” MZ DZ

Tuberculosis Germany 65 25USA 62 18UK 32 14

Leprosy India 52 22

H. pylori Sweden 81 63

Poliomyelitis USA 36 6

Hepatitis B Taiwan 35 4

Three SNPs define a haplotype associated with disease risk

CAPN10 Haplotype Frequencies in Human Populations

Haplotype MexAm Finland German Ch.Am. Jp.Am. Pima ZapotecaA G - 3x - C 0.32 0.29 0.42 0.56 0.56 0.36 0.17B G - 2x - T 0.23 0.03 0.03 0.31 0.25 0.29 0.24C A - 3x - C 0.27 0.32 0.29 0.06 0.04 0.22 0.52

H.J. Muller

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