κεφαλαιο 2...
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HARDY-WEINBERG
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, . . 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). - . , . , . , . , ,
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... . , , . , . . , . , , .
(fixation frequency): , 1. , 0,95.
2.2 . , . , . , . , , . , , , . .
. , . , , . , , .
(molecular markers). , DNA, , . , , (allozymes) 1 , Drosophila.
. , . , . , , . . , ,
1 (allozymes) . .
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, , , . , , , . , , , . , , , , . . , .
, DNA, , . . .
, . , , . , , .
DNA. DNA , ( , ), ( 2.1). DNA ( ) . ( , ), . DNA DNA DNA .
, . , DNA, , (PCR), . , PCR . , [ (genotyping) ] . , . , , . , , DNA . DNA , , .
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2.1. . . . , DNA . PCR. 1 , 2, 12. . . .
(SNPs). ( 2.2). . , ( transcriptome exome) . . , SNPs, . DNA (probes), . , . .
2.3 , . , . . .
, .
, [
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(, )]. , . 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!").
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. , .
, . , . . .
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
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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!
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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.
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, , , 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!)!.
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, 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 . , . ,
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, . . , .
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 . , . , , . .
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, .
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 .
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, . , . . ( 2.3). . 2.3 . 0,5. . , .
2.2 . , , . , 0,5, 0,01 0,99, . . 2pq, 0,5. 0,0198.
2.3 .
, , .
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, . 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.