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  • 1

    2

    HARDY-WEINBERG

  • 2

    , . . Hardy-Weinberg, , . .

    2.1 , , . . , .

    (genetic locus, . genetic loci): . . , . , adh ( ) In(2L)t Drosophila 2 - , . T/C, 477 DNA.

    (gene): , , tRNA rRNA. , .

    (alleles): . , . , A, G, . , , Drosophila, . ( -locus) , (monomorphic), , (polymorphic).

    (mutation): . , . . .

    (population): . , . , , . (species). - . , . , . , . , ,

  • 3

    ... . , , . , . . , . , , .

    (fixation frequency): , 1. , 0,95.

    2.2 . , . , . , . , , . , , , . .

    . , . , , . , , .

    (molecular markers). , DNA, , . , , (allozymes) 1 , Drosophila.

    . , . , . , , . . , ,

    1 (allozymes) . .

  • 4

    , , , . , , , . , , , . , , , , . . , .

    , DNA, , . . .

    , . , , . , , .

    DNA. DNA , ( , ), ( 2.1). DNA ( ) . ( , ), . DNA DNA DNA .

    , . , DNA, , (PCR), . , PCR . , [ (genotyping) ] . , . , , . , , DNA . DNA , , .

  • 5

    2.1. . . . , DNA . PCR. 1 , 2, 12. . . .

    (SNPs). ( 2.2). . , ( transcriptome exome) . . , SNPs, . DNA (probes), . , . .

    2.3 , . , . . .

    , .

    , [

  • 6

    (, )]. , . nAA , nA n . : n!! + n!" + n!! = .

    D : D = !!!!

    . H = !!"

    !,

    R R = !!!!

    . D, H R : D+H+R=1.

    2.2. (SNP) . . 1 G, 3 , 2 G/A.

    , . p q , :

    p = !!!!!!!"!"

    q = !!!!!!!"!"

    . , . , 2.

    : p = D + !

    ! q = R + !

    ! 2.1

    1.1. . . p! i x!" iAj. ij. n 1. :

    !!!+!!! + !!! ++ !!! + !!"+ !!" ++ !(!!!)! = 1 :

    !! !!"

    !

    !!!

    !

    !!!

    = 1

    n . :

    !! = !!! +12! !!"

    !!!

    !!!

    +12! !!"

    !

    !!!!!

    3 (p!) n=4 . , p! :

    p! = x!! +12(x!" + x!") +

    12(x!").

  • 7

    . , .

    , . , . . .

    2.4 Hardy-Weinberg 20 ( ) , . Karl Pearson , p q, p=q=0,5, . 1908 G. H. Hardy W. Weinberg , , , . Pearson . , , , Hardy-Weinberg (Hardy-Weinberg Equilibrium-HWE).

    2.1 (p q ) , ( ), .

    ,

    p q, . . , , , . , ( 2.1).

    : : p2, A: 2pq, : q2. 1.

    (p+q)2, . Hardy-Weinberg .

    2.5 Hardy-Weinberg , Hardy-Weinberg.

    1 2. D 11, 12 R 22. p q

  • 8

    1 2, , ! = ! +!!

    ! = ! + !!

    . , . 2.2

    2.2, 2.3

    .

    2.2 .

    2.3, 11 x 12 ( 2). 2 11 12, 22.

    , 11 D 11 . :

    D = D!x1 + 2DH x !! + H! x !

    ! = (D + !

    !)! = p!.

    :

    H = 2DH x12+ 2DRx1 + 2RH x

    12 + H! x

    12

    H! = 2DR + DH + RH +H!

    2

    H! = 2 D +H2

    R +H2

    = 2pq

    : R! = q! , : D! =

    p!, H! = 2pq, R! = q! . , .

    1.2 Hardy-Weinberg . 1, 2 3 p, q z, : 11: p2, 12: 2pq, 13: 2pz, 22: q2, 23: 2qz, 33: z2, (p+q+z)2=1. n x1, x2, .. xn:

    (x1+ x2+ ..+ xn)2=1. , m , : (x1+ x2+ ..+ xn)m=1. 1 2 p q, : (p+q)3=1.

  • 9

    , , , Hardy-Weinberg.

    2.3 , .

    2.4 2.5 :

    , Hardy-Weinberg. Hardy-Weinberg .

    2.6 Hardy-Weinberg: Hardy-Weinberg, .

    2.6.1 1, 2 3, p1, p2 p3, Hardy-Weinberg, 2.4. 2.4 ( , ). ( ).

    2.4 : 11: p12 12: 2p1p2 13: 2p1p3 22: p22 23: 2p2p3 33: p32 (p! + p! + p!)! ( 2.2). , Hardy-Weinberg

    n p1, p2 . pn. (p! + p! ++ p!)!.

    . m , : (p! + p! ++ p!)!.

  • 10

    , 1 2, p1 p2, (p! + p!)!:

    111: p!! 122: 3p!p!! 112: 3p!!p! 222: p!!

    2.6.2 Hardy-Weinberg . , p q. , 2.5.

    2.5. .

    : AA: p2 A: 2pq : q2 : A: p : q

    2.6 .

    , . , (q2) (q). , , , . 2.6 0,1, 10 , 0,0001, 10.000 . , . ,

  • 11

    , . . , .

    2.7 Hardy-Weinberg , Hardy-Weinberg;

    1 2, p q , 1 2. 11, 12 22 D, H R . , 2.7.

    2.7 .

    , 11, 12 22 D! = p!,

    H! = 2pq R! = q!. . 1 2 p q. 1 11, p2 ( 1) 1. , 1 12, 2pq 1. , :

    p! = p!x1 + 2pqx12 p! = p p + q = p

    , q! = q. , Hardy-Weinberg,

    , . Hardy-Weinberg (Hardy-Weinberg equilibrium, HWE).

    2.8 Hardy-Weinberg Hardy-Weinberg . . , , . , , 0,49, 0,42 0,09, , , 0,49, 0,42 0,09 . . H . , . , , . .

  • 12

    , .

    Hardy-Weinberg . . , . , .

    Hardy-Weinberg . , , , . , .

    , , , .

    Hardy-Weinberg , . , . , . , ... Hardy-Weinberg . . .

    2.9 (heterozygosity)

    . . Hardy-Weinberg, . 1 2, p q, H = 2pq. 1, 2 3 p1, p2 p3, :

    H = 2!!!! + 2!!!! + 2!!!! . H = 1 (!!! + !!! + !!!) . n p1, p2 . pn, :

    H = 1 !!!!!!! 2.2 , 1 (-

    homozygosity). , . ( q)

    (2pq) (q2) ( 2.8). () () .

    2.8 .

  • 13

    , . , . . ( 2.3). . 2.3 . 0,5. . , .

    2.2 . , , . , 0,5, 0,01 0,99, . . 2pq, 0,5. 0,0198.

    2.3 .

    , , .

  • 14

    , . 2001. . . . Avise, J. C. 2004. Molecular markers, natural history, and evolution. Sunderland, Mass.,

    Sinauer Associates. Barton, N. H., Briggs, D. E. G., Eisen, J. A., Goldstein, D. B. & Patel, N. H. 2007. . : . . UTOPIA. . Freeman, S. & Herron, J. C. 2007. Evolutionary analysis. Harlow, Prentice Hall. Futuyma, D. J. 2009. Evolution. Sunderland, Mass. Basingstoke, Sinauer Associates,

    Palgrave. Hartl, D. L. & Clark, A. G. 2007. Principles of population genetics. Sunderland, Mass.,

    Sinauer Associates. Hedrick, P. W. 2005. Genetics of populations. Boston, Jones and Bartlett Publishers.