h.j. muller. t. dobzhansky mutation rates at human str loci, measured in paternity tests str...
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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
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