Genotypic frequencies - General recipe: fAA NAA

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Genotypic frequencies - General formula:f(AA) = NAA/N - > 50/100 = 0.5f(Aa) = NAa/N - > 30/100 = 0.3 f(aa) = Naa/N - > 20/100 = 0.2. Allele Frequencies: AA = 50, Aa = 30, aa = 20Note, each individual conveys two duplicates of thegene therefore, the aggregate number of alleles is 2N.p = recurrence of

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Slide 1

Area 3 Characterizing Genetic Diversity: Single Loci Gene with 2 alleles assigned "An" and "a". Three genotypes: AA, Aa, aa Population of 100 people with the accompanying Genotypes: AA = 50, Aa = 30, aa = 20

Slide 2

Genotypic frequencies - General recipe: f (AA) = N AA/N - > 50/100 = 0.5 f (Aa) = N Aa/N - > 30/100 = 0.3 f (aa) = N aa/N - > 20/100 = 0.2

Slide 3

Allele Frequencies: AA = 50, Aa = 30, aa = 20 Note, each individual conveys two duplicates of the quality in this way, the aggregate number of alleles is 2N. p = recurrence of "An" and q = recurrence of "a". The recurrence of "An" is: p = (50 + 50 + 30)/200 = 0.65

Slide 4

Frequency of "an" is: q = (20 + 20 + 30)/200 = 0.35 Note: p + q = 1 in this manner, a proportional recipe is: p = f (AA) + 0.5 f (Aa) and q = 0.5 f (Aa) + f (aa)

Slide 5

Hardy-Weinberg Equilibrium: under specific conditions, allele and genotypic frequencies will stay consistent in a populace starting with one era then onto the next. Presumptions of Hardy-Weinberg Equilibrium: Organism being referred to is diploid Reproduction is sexual Generations are non-covering Panmixia Population size is boundlessly vast, or if nothing else large enough to maintain a strategic distance from stochastic mistakes

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Migration (movement/displacement) is immaterial No change Natural choice does NOT influence the quality under thought Hardy-Weinberg balance is straightforward yet gives the premise to identifying deviations from irregular mating, testing for determination, displaying the impacts of inbreeding and choice, and evaluating allele frequencies.

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Single autosomal locus in a diploid creature with discrete eras. At first consider a locus with just two alleles " A " and " a " with introductory frequencies " p " and " q ". Assign frequencies of genotypes AA , Aa , and aa as P , H , and Q , individually. Irregular Union of Gametes : Many marine spineless creatures discharge their gametes into the ocean and the gametes discover each other and consolidate indiscriminately.

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Sperm a q A p Allele Frequency Aa pq AA p 2 A p E G aa q 2 Aa pq a q Note: p 2 + 2pq + q 2 = (p + q) 2 = 1

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Testing for deviations from H.W.E fills in as an invalid theory and discloses to us what's in store if nothing fascinating is going on. On the off chance that we test a populace and find that the expectations of H.W.E are not met, then we can reason that at least one of the suspicions is abused.

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Chi-square trial of "Decency of Fit"  2 =  (watched - expected) 2/expected Example : You are concentrate a populace of African elephants and measure the whole populace (N = 260) for the ADH locus and find that the populace contains just two alleles (F and f) with the accompanying genotypic numbers: FF = 65, Ff = 125, ff = 70

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Step 1: Determine allele frequencies: p = F = (65 + 65 + 125)/520 = 0.4904 q = f = 1 - p = 1 - 0.4904 = 0.5096 Step 2: Calculate Expected genotypic freq.: P = p2 = (0.4904) 2 = 0.2405 H = 2pq = 2(0.4904)(0.5096) = 0.4998 Q = q2 = (0.5096) 2 = 0.2597

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Step 3: Calculate chi-square measurement: O E (O-E) 2/E P 65 0.2405 X 260 = 62.53 0.098 H 125 0.4998 X 260 = 129.95 0.189 Q 70 0.2597 X 260 = 67.52 0.091  2 = 0.378 Step 4: Compare computed  2 with tabled  2 : Degrees of flexibility 3 (# of genotypes ) - 1( steady ) - 1( # parameters ) = 1

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Look up basic qualities for 2 measurement: Level of Significance D.f. 0.05 0.01 0.001 1 3.84 6.64 10.83 2 5.99 9.21 13.82 3 7.82 11.34 16.27 Calculated  2 ( 0.378 ) is not as much as tabled esteem along these lines we neglect to dismiss the invalid theory.

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Cautionary notes about testing for deviations from H.W.E: Caution 1 : If we discover a populace does not stray from Hardy-Weinberg Equilibrium, we can't presume that no transformative strengths are working. Alert 2 : The capacity of the chi-square test to recognize noteworthy deviations from Hardy-Weinberg balances is extremely feeble.

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Caution 3 : Deviations from Hardy-Weinberg desires gives us not data about the sorts or headings of the transformative powers working.

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Deviations from H.W.E There are two sorts of non-irregular mating, those Where mate decision depends on parentage (inbreeding and crossbreeding) and those whose Choice is based upon genotypes at a specific Locus (assortative and disassortative mating).

Slide 17

Inbreeding : Is of real significance in protection hereditary qualities as it prompts to decreased conceptive wellness. At the point when related people mate at a rate more prominent then expected by irregular mating, the recurrence of heterozygotes is decreased in respect to H.W.E. Shirking of inbreeding and cross-rearing can prompt to higher than anticipated heterozygosities.

Slide 18

Assortative and Disassortative Mating : the particular mating of like-with-like genotype is called "assortative" mating. The mating of dissimilar to genotypes is alluded to as "disassortative" mating. As a rule, assortative mating prompts to expanded homozygosity, while disassortative mating builds heterozygosity, with respect to H.W. desires.

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Fragmented populaces : Allele frequencies separate in secluded populaces because of shot and determination. This outcomes in a general lack of heterozygotes, notwithstanding when singular populaces are themselves in H.W.E

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Linkage Disequilibrium : In vast, haphazardly mating populaces at balance, alleles at various loci are required to be arbitrarily related. Look at loci As an and B with alleles A 1 , A 2 , and B 1 , B 2 , and frequencies p A , q A , p B , q B , individually. These loci and alleles shape gametes A 1 B 1 , A 1 B 2 , A 2 B 1 , and A 2 B 2 . Under irregular mating and autonomous variety, These gametes will have frequencies that are the Product of their allele frequencies, A 1 B 2 = p A q B .

Slide 21

Random relationship of alleles at various loci is alluded to as " Linkage Equilibrium ". Non-irregular relationship of alleles among loci is alluded to as " Linkage Disequilibrium ". Chance occasions in little populaces, populace bottlenecks, late blending of various populaces, and determination all may bring about non-arbitrary relationship among loci.

Slide 22

Loci that show deviations from linkage harmony in huge arbitrarily mating populaces are regularly subject to solid powers of characteristic choice. In little populaces, nonpartisan alleles that have no specific contrasts between genotypes may carry on as though they are under choice because of non-irregular relationship with alleles at close-by loci that are by and large emphatically chose.

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Linkage disequilibrium is of significance in populaces of preservation worry as : Linkage disequilibrium will be regular in undermined species as their populace sizes are little. Populace bottlenecks often cause linkage disequilibrium. Transformative procedures are modified when there is linkage disequilibrium.

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Functionally vital quality groups showing linkage disequilibrium, (for example, MHC) are of real significance to the diligence of debilitated species. Linkage disequilibrium is one of the signs that can be utilized to recognize admixture of separated populaces. Linkage disequilibrium can be utilized to evaluate hereditarily successful populace sizes.

Slide 25

Consider a case where two diverse monomorphic populaces with genotypes A 1 A 1 B 1 B 1 and A 2 A 2 B 2 B 2 are joined and permitted to mate indiscriminately. Each autosomal locus is relied upon to achieve individual H.W.E. in one era. In any case, alleles at various loci don't accomplish linkage balance frequencies in one era, they just approach is asymptotically at a rate reliant on the recombination recurrence between the two loci.

Slide 26

In this case of the pooled populace, accept: 70% of pooled populace is A 1 A 1 B 1 B 1 30% of pooled populace is A 2 A 2 B 2 B 2 equal number of females & guys of both genotypes. Just two gametic sorts are created: A 1 B 1 , A 2 B 2 Next era: A 1 A 1 B 1 B 1 , A 1 A 2 B 1 B 2 , A 2 A 2 B 2 B 2 These loci are unmistakably in linkage disequilibrium.

Slide 27

In resulting eras, two other conceivable gametic sorts A 1 B 2 and A 2 B 1 are created by recombination in the increase heterozygous genotype. For instance, A 1 B 1/A 2 B 2 heterozygotes deliver recombinant gametes A 1 B 2 and A 2 B 1 at frequencies of 1/2c , where c is the rate of recombination and non-recombinant A 1 B 1 , A 2 B 2 gametes in frequencies 0.5(1-c). In the long run, each of the 9 conceivable genotypes will be framed and achieved at balance frequencies.

Slide 28

Until balance is achieved, genotypes will veer off from their normal frequencies. Linkage disequilibrium is the deviation of gametic frequencies from their harmony frequencies. The measure of linkage disequilibrium D is the contrast between the result of the frequencies of the A 1 B 1 and A 2 B 2 gametes (alluded to as r and u ) and the result of the frequencies of the A 1 B 2 and A 2 B 1 gametes ( s and t ): D = ru - st

Slide 29

Actual freq. r s t u 1.0 Equil. freq. p A q A p A q B q A p B q A q B 1.0 Disequilibrium: D = ru - st Numerical Example: p A = 0.70, q A = 0.30, p B = 0.70, q B = 0.30 Actual freq. 0.70 0.00 0.00 0.30 Equil. freq. 0.7X0.7 0.7X0.3 0.3X0.7 0.3X0.3 0.49 0.21 0.09 Disequilibrium D = (0.7 X 0.3) - (0.0 X 0.0) = 0.21

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D max = 0.25 and happens when: r = 0.5, s = 0.0, t = 0.0, u = 0.5 D min = - 0.25 and happens when: r = 0.0, s = 0.5, t = 0.5, u = 0.0 Under harmony, ru = st and D = 0.

Slide 31

Many diverse measures of disequilibrium. Lewontin (1964) recommended D' , which is: D' = D/D max Where, D max is the most extreme D

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