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Example Questions
Example Question #95 : Cell Biology, Molecular Biology, And Genetics
75% of a given population test positive for Rhesus (Rh) factor antibodies. Given that blood type Rh+ is a dominant allele, what percentage of this population is homozygous?
We must know the total population size to solve
This question is testing your knowledge of blood types and of the Hardy-Weinberg equations. Let's first evaluate the blood type portion of the question.
Rh-positive individuals will produce Rh factor. This molecule is an antigen. The given percentage refers to the number of individuals that produce antibodies to the Rh antigen. We can conclude that 75% of the population must be Rh-negative, since they produce antibodies against Rh factor; thus, 75% of the population must be homozygous recessive, since Rh-positive is a dominant allele.
Using this information, we can apply the Hardy-Weinberg equations:
We know that 75% of the population is homozygous recessive, which corresponds to the term in the second Hardy-Weinberg equation.
Use this value to solve for the dominant allele frequency.
The total percentage of the population that is homozygous will be given by the sum of the and terms in the Hardy-Weinberg equation.
Example Question #1165 : Mcat Biological Sciences
9% of a population of mice suffer from muscle spasms due to an autosomal recessive disease. What percentage of the population are carriers for the disease?
This question requires application of the two Hardy-Weinberg equations:
We know that the disease is autosomal recessive, which means that affected individuals must be homozygous. The frequency of the homozygous recessive genotype is given by the term in the second Hardy-Weinberg equation. We can use the given genotype frequency to solve for the recessive allele frequency.
Use the first Hardy-Weinberg equation to determine the dominant allele frequency.
The frequency of the heterozygous genotype (carriers) is given by the term of the second Hardy-Weinberg equation. Use the values of the allele frequencies to calculate this term.
Example Question #93 : Genetics
In a population of a particular island, 64% of individuals have a homozygous recessive genotype. Assuming the population correlates with Hardy-Weinberg principles, what percentage of individuals in the next generation will be heterozygous?
Use equations p + q = 1 and p2 + 2pq + q2 = 1.
If 64% is homozygous recessive genotype, then q2 = 0.64.
Then solve for p and q.
q = 0.8 and p = 0.2. The frequency of heterozygous individuals is 2pq or 2(0.2)(0.8) = 0.32
Example Question #94 : Genetics
A certain island-nation with a population of 200,000 has laws which severely restrict travel onto or off the island. There is an absolute prohibition against marrying foreigners, but island natives may marry as they wish. A non-lethal recessive genetic condition affects 2,000 of the people. How many carriers of this condition live on the island?
I. 198,000
II. 96,000
III. 36,000
IV. 12,400
V. 9,600
V
II
I
III
IV
III
The question assumes unusual conditions that must be met for a Hardy-Weinberg genetic equilibrium to exist. The population is large and isolated. The gene is assumed to be stable. Mating is "random," but only within the population. Here, the affected homozygous recessive people number 2,000—one one hundredth of the population.
In Hardy-Weinberg terms, this means q squared is 0.01 and q (the frequency of the recessive allele) is 0.1. Since p + q = 1, then p, the frequency of the dominant allele, must be 0.9. The carriers are denoted by 2pq because p + q = 1, and therefore p2 + 2pq + q2 is also equal to one. Here, 2 (0.9)(0.1) = 0.18, meaning that 18% of the 200,000 population, or 36,000 persons, are heterozygous carriers. The strict conditions for Hardy-Weinberg equilibrium are almost never satisfied in human populations.
Example Question #95 : Genetics
A botanist is reviewing a set of sequenced genomes from the tobacco plants he uses in his lab. He notices frequency of plants that are phenotypically recessive is 0.16. What are the frequencies of heterozygotes and homozygous dominant plants?
Heterozygotes = 0.48
Homozygous dominant = 0.36
Heterozygotes = 0.36
Homozygous dominant = 0.48
Heterozygotes = 0.68
Homozygous dominant = 0.16
Heterozygotes = 0.40
Homozygous dominant = 0.60
Heterozygotes = 0.60
Homozygous dominant = 0.40
Heterozygotes = 0.48
Homozygous dominant = 0.36
We use the formula:
where p and q are the allelic frequencies. We know that is the frequency of homozygous recessive individuals, so q must be 0.4 That means that p must be 0.6, because p and q must add up to 1. From there, we can just plug in 0.4 a 0.6 to get our answer.
Example Question #101 : Cell Biology, Molecular Biology, And Genetics
The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.
The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.
Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.
A scientist discovers another genetic disease that has similar symptoms to Prader-Willi Syndrome. He discovers that this disease is recessive, and caused not by changes to chromosome 15, but by a point mutation on chromosome 3. He calculates the recessive allele frequency in a population to be .
Assuming the that normal allele, , and recessive allele, , are the only two alleles in this population, what is the percentage of the population that has the disease?
Based on Hardy-Weinberg principles, we can predict the phenotype and genotype frequencies of a given population based on the equation . In this equation, is the recessive allele frequency and is the recessive phenotype frequency, or frequency of homozygous recessive genotypes.
The genotype frequency of , necessary for the development of a recessive disease, is going to be the square of the recessive allele frequency, .
Example Question #21 : Population Genetics And Hardy Weinberg
A rare recessive mutation causes rabbits that are normally white to be pink. If one in a hundred rabbits is pink, what is the frequency of the pink allele?
We know that the pink allele is recessive and that one out of every hundred is pink; thus, one out of every hundred rabbits is homozygous recessive. Using Hardy-Weinberg calculations, we should be able to calculate the allele frequency.
If the pink allele frequency is , then is ; will refer to the frequency of homozygous recessive individuals in a population.
Using this set up, we can solve for the recessive allele frequency.
Example Question #21 : Population Genetics And Hardy Weinberg
The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.
The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.
Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.
A child is diagnosed with a genetic disease, and two years later his parents have another child. The second child also inherited the gene mutation, but does not express the disease. Which of the following is reduced in the second child?
Penetrance
Imprinting
Anticipation
Dominance
Recessivity
Penetrance
The second child has reduced penetrance. Reduced penetrance is found when a given genotype (the presence of the mutation) fails to "penetrate" the phenotype. In other words, even though the second child has the dysfunctional allele, he does not have a clinical disease.
Penetrance refers to the level of dominance. These alleles can still be described as dominant or recessive, but penetrance describes the degree of dominance along a spectrum.
Example Question #21 : Population Genetics And Hardy Weinberg
Researchers are studying a disease that causes neurological deficits in humans. They have identified the disorder as autosomal dominant, but notice that about 20% of people with the dominant disease allele do not express any of the associated neurological impairment. What genetics term explains this phenomenon?
Codominance
Sex-linked interitance
Variable expressivity
Degeneracy of the genetic code
Reduced penetrance
Reduced penetrance
In this example, some individuals with a certain genotype do not express the expected phenotype (symptoms of the disease) at all. The only term that properly describes this effect is reduced penetrance. Penetrance refers to the percent of individuals with a specific genotype who express the associated phenotype. In most common examples given in genetics courses, autosomal dominant diseases are 100% penetrant, meaning that all individuals with one disease allele will show symptoms to some extent. Here, however, the disease appears to show 80% penetrance.
One term often confused with penetrance is expressivity. This refers to the extent that the phenotype is expressed, and is only applicable when penetrance is 100%. If all of the individuals showed symptoms of the disease, but some showed slightly different defects than others, the disease would have variable expressivity. The other answer choices refer to unrelated genetics concepts.
Example Question #101 : Genetics
If forty percent of a Hardy-Weinberg population is phenotypic for an autosomal recessive trait, approximately what percent of the population will be heterozygous?
56%
36%
48%
16%
48%
The phenotype for a Hardy-Weinberg population can be defined as p + q =1, where p and q represent dominant and recessive frequencies. The genotypes for the population can be defined as p2+2pq+q2=1.
In this formula, p2 and q2 represent the homozygous dominant and homozygous recessive genotype frequencies respectively, and 2pq represents the heterozygous genotype frequency in the population.
Since 40% of the population is phenotypic recessive, we know that 60% of the population is phenotypic dominant.
q = 0.4
p + q =1; p = 0.6
p2 and q2 are equal to 0.16 and 0.36 respectively. Solving for 2pq gives us 0.48, so approximately 48% of the population will be heterozygous.
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