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Frontiers in Biology

ISSN 1674-7984

ISSN 1674-7992(Online)

CN 11-5892/Q

Front. Biol.    2010, Vol. 5 Issue (4) : 348-353    https://doi.org/10.1007/s11515-010-0580-x
Research articles
The Hardy-Weinberg principle and its applications in modern population genetics
John J. CHEN,
Department of Preventive Medicine, State University of New York at Stony Brook, Stony Brook, NY 11794-8036, USA;
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Abstract The discovery of the Hardy-Weinberg principle marked the beginning of the field of population genetics. Over the past hundred years, it has provided a starting point for many population genetic investigations. In this review, the Hardy-Weinberg principle, its statistical testing, and several of its applications in various modern population genetic research areas, including allelic variability and selection in the human leukocyte antigen region, microsatellite genotyping error detection, and accuracy of haplotype estimation, are discussed.
Keywords the Hardy-Weinberg principle      statistical testing      population genetics      human leukocyte antigens      microsatellite genotyping      haplotype estimation      
Issue Date: 01 August 2010
 Cite this article:   
John J. CHEN. The Hardy-Weinberg principle and its applications in modern population genetics[J]. Front. Biol., 2010, 5(4): 348-353.
 URL:  
https://academic.hep.com.cn/fib/EN/10.1007/s11515-010-0580-x
https://academic.hep.com.cn/fib/EN/Y2010/V5/I4/348
Chen J J, Duan T, Single R, Mather K, Thomson G(2005). Hardy-Weinbergtesting of a single homozygous genotype. Genetics, 170(3): 1439―1442

doi: 10.1534/genetics.105.043190
Chen J J, Hollenbach J A, Trachtenberg E A, Just J J, Carrington M, R?nningen K S, Begovich A, King M C, McWeeney S, Mack S J, Erlich H A, Thomson G(1999). Hardy-Weinberg testing for HLA class II (DRB1, DQA1,DQB1, and DPB1) loci in 26 human ethnic groups. Tissue Antigens, 54(6): 533―542

doi: 10.1034/j.1399-0039.1999.540601.x
Chen J J, Thomson G(1999). The variancefor the disequilibrium coefficient in the individual Hardy-Weinbergtest. Biometrics, 55(4): 1269―1272

doi: 10.1111/j.0006-341X.1999.01269.x
Crow J F(1988). Eighty years ago: the beginnings of population genetics. Genetics, 119(3): 473―476
Demers D B, Curry E T, Egholm M, Sozer A C(1995). Enhanced PCR amplification of VNTR locus D1S80 using peptide nucleicacid (PNA). Nucl Acids Res, 23(15): 3050―3055

doi: 10.1093/nar/23.15.3050
Dempster A P, Laird N M, Rubin D B(1977). Maximum likelihood from incompletedata via EM algorithm. J R Stat Soc, B, 39: 1―38
Ellegren H(2000). Heterogeneous mutation processes in human microsatelliteDNA sequences. Nat Genet, 24(4): 400―402

doi: 10.1038/74249
Ellegren H(2004). Microsatellites: simple sequences with complex evolution. Nat Rev Genet, 5(6): 435―445

doi: 10.1038/nrg1348
Elston R C, Forthofer R(1977). Testingfor Hardy-Weinberg equilibrium in small samples. Biometrics, 33(3): 536―542

doi: 10.2307/2529370
Emigh T H(1980). A comparison of tests for Hardy-Weinberg equilibrium. Biometrics, 36(4): 627―642

doi: 10.2307/2556115
Epstein M P, Satten G A(2003). Inferenceon haplotype effects in case-control studies using unphased genotypedata. Am J Hum Genet, 73(6): 1316―1329

doi: 10.1086/380204
Excoffier L, Laval G, Schneider S(2005). Arlequin (version 3.0): an integratedsoftware package for population genetics data analysis. Evol Bioinform Online, 1: 47―50
Excoffier L, Slatkin M(1995). Maximum-likelihoodestimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol, 12(5): 921―927
Fallin D, Schork N J(2000). Accuracyof haplotype frequency estimation for biallelic loci, via the expectation-maximizationalgorithm for unphased diploid genotype data. Am J Hum Genet, 67(4): 947―959

doi: 10.1086/303069
Gomes I, Collins A, Lonjou C, Thomas N S, Wilkinson J, Watson M, Morton N(1999). Hardy-Weinberg quality control. Ann Hum Genet, 63(Pt 6): 535―538

doi: 10.1046/j.1469-1809.1999.6360535.x
Guo S W, Thompson E A(1992). Performingthe exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics, 48(2): 361―372

doi: 10.2307/2532296
Hardy G H(1908). Mendelian proportions in a mixed population. Science, 28(706): 49―50

doi: 10.1126/science.28.706.49
Hearne C M, Ghosh S, Todd J A(1992). Microsatellites for linkage analysisof genetic traits. Trends Genet, 8(8): 288―294

doi: 10.1016/0168-9525(92)90256-4
Hernández J L, Weir B S(1989). A disequilibriumcoefficient approach to Hardy-Weinberg testing. Biometrics, 45(1): 53―70

doi: 10.2307/2532034
Hosking L, Lumsden S, Lewis K, Yeo A, McCarthy L, Bansal A, Riley J, Purvis I, Xu C F(2004). Detection of genotyping errors by Hardy-Weinberg equilibrium testing. Eur J Hum Genet, 12(5): 395―399

doi: 10.1038/sj.ejhg.5201164
Lancaster A K, Single R M, Solberg O D, Nelson M P, Thomson G(2007). PyPopupdate—a software pipeline for large-scale multilocus populationgenomics. Tissue Antigens, 69(Suppl 1): 192―197

doi: 10.1111/j.1399-0039.2006.00769.x
Li C C(1955). Population Genetics. Chicago: University of Chicago Press
Louis E J, Dempster E R(1987). An exacttest for Hardy-Weinberg and multiple alleles. Biometrics, 43(4): 805―811

doi: 10.2307/2531534
Meng X L, Rubin D B(1993). Mximum-likelihoodestimation via the ECM algorithm – a general framework. Biometrika, 80(2): 267―278

doi: 10.1093/biomet/80.2.267
Miller K M, Kaukinen K H, Beacham T D, Withler R E(2001). Geographic heterogeneity in natural selection on anMHC locus in sockeye salmon. Genetica, 111(1―3): 237―257

doi: 10.1023/A:1013716020351
Morin P A, Leduc R G, Archer F I, Martien K K, Huebinger R, Bickham J W, Taylor B L(2009). Significant deviations from Hardy–Weinberg equilibriumcaused by low levels of microsatellite genotyping errors. Molecular Ecology Resources, 9(2): 498―504
Parham P(2005). MHC class I molecules and KIRs in human history, healthand survival. Nat Rev Immunol, 5(3): 201―214

doi: 10.1038/nri1570
Robinson J, Waller M J, Fail S C, McWilliam H, Lopez R, Parham P, Marsh S G E(2009). The IMGT/HLA database. NuclAcids Res, 37 (SI): D1013―D1017
Rodríguez S, Visedo G, Zapata C(2001). Detection of errors in dinucleotiderepeat typing by nondenaturing electrophoresis. Electrophoresis, 22(13): 2656―2664

doi: 10.1002/1522-2683(200108)22:13<2656::AID-ELPS2656>3.0.CO;2-6
Rousset F, Raymond M(1995). Testingheterozygote excess and deficiency. Genetics, 140(4): 1413―1419
Schaid D J(2004). Evaluating associations of haplotypes with traits. Genet Epidemiol, 27(4): 348―364

doi: 10.1002/gepi.20037
Shoemaker J, Painter I, Weir B S(1998). A Bayesian characterization of Hardy-Weinbergdisequilibrium. Genetics, 149(4): 2079―2088
Single R M, Meyer D, Hollenbach J, Nelson M, Noble J A, Erlich H A, Thomson G(2002). Haplotype frequency estimation in patient populations:an example from the HLA region. Genet Epidemiol, 22: 186―195

doi: 10.1002/gepi.0163
Smith C A B(1986). Chi-squared tests with small numbers. Ann Hum Genet, 50(Pt 2): 163―167

doi: 10.1111/j.1469-1809.1986.tb01035.x
Solberg O D, Mack S J, Lancaster A K, Single R M, Tsai Y, Sanchez-Mazas A, Thomson G(2008). Balancing selection and heterogeneity across the classicalhuman leukocyte antigen loci: a meta-analytic review of 497 populationstudies. Hum Immunol, 69(7): 443―464

doi: 10.1016/j.humimm.2008.05.001
Takahata N, Satta Y, Klein J(1992). Polymorphism and balancing selectionat major histocompatibility complex loci. Genetics, 130(4): 925―938
Trachtenberg E, Korber B, Sollars C, Kepler T B, Hraber P T, Hayes E, Funkhouser R, Fugate M, Theiler J, Hsu Y S, Kunstman K, Wu S, Phair J, Erlich H, Wolinsky S(2003). Advantage of rare HLA supertype in HIV disease progression. Nat Med, 9(7): 928―935

doi: 10.1038/nm893
Traherne J A(2008). Human MHC architecture and evolution: implications fordisease association studies. Int J Immunogenet, 35(3): 179―192

doi: 10.1111/j.1744-313X.2008.00765.x
Weinberg W(1908). über den Nachweis der Vererbung beim Menschen. Jahresh. Ver. Vaterl. Naturkd. Württemb, 64: 369―382. On the demonstrationof heredity in man (Translated by S.H. Boyer, 1963)
Westfall P H, Young S S(1993). Resampling-basedmultiple testing. New York: Wiley
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