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Question

In a genetic study, $80$ people were found to have alleles for polydactyly. Only $36$ of them were polydactylous. What is the extent of penetrance percentage? _______________

Understanding Genetic Penetrance Percentage

Penetrance measures how often a gene variant leads to a specific trait. In this genetic study, we calculate the penetrance percentage for polydactyly.

Calculating Penetrance

The penetrance percentage is calculated using the formula:

$ \text{Penetrance Percentage} = \left( \frac{\text{Number of individuals showing the trait}}{\text{Number of individuals with the allele}} \right) \times 100 $

Applying the Formula

Given:

  • Number of individuals with alleles for polydactyly = 80
  • Number of individuals who were polydactylous (showing the trait) = 36

Substitute the values into the formula:

$ \text{Penetrance Percentage} = \left( \frac{36}{80} \right) \times 100 $

First, calculate the fraction:

$ \frac{36}{80} = 0.45 $

Now, multiply by 100 to get the percentage:

$ 0.45 \times 100 = 45\% $

The penetrance percentage is 45%. This means that 45% of the individuals carrying the allele for polydactyly actually exhibited the trait.

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Important Questions from Population Genetics and Epigenetics

  1. Which of the following conditions will contribute to the stability of a gene pool in a natural population? 

    P. Large population 

    Q. No net mutation 

    R. Non-random mating 

    S. No selection

  2. In a random mating population, $Y$ and $y$ are dominant and recessive alleles, respectively. If the frequency of $Y$ allele in both sperm and egg is $0.70$, then the frequency of $Y/y$ heterozygotes (rounded off to two decimal places) is ________
  3. An isolated population on an island has the following genotypic frequencies:
    GenotypeAAAaaa
    Frequency0.30.40.3
    Assuming that there are only two alleles (A and a) for the gene, the genotypic frequency of AA in the next generation will be ________
  4. If an unbiased coin is tossed 10 times, the probability that all outcomes are same will be _________ $x10^{-5}$
  5. Consider a population of $10,000$ individuals, of which $2500$ are homozygotes (PP) and $3000$ are heterozygotes (Pp) genotype. The frequency of allele p in the population is _________.
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