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Example Questions
Example Question #21 : Cell Biology, Molecular Biology, And Genetics
Consider the pedigree of a recessive trait. Is the trait autosomal or sex-linked?
The mode of inheritance cannot be determined
X-linked
Y-linked
Autosomal
X-linked
This trait is X-linked, which can be determined by considering individual 4. This individual has a 50% chance of receiving an affected maternal chromosome (she is a carrier) and a 0% chance of receiving an affected paternal chromosome (he is unaffected), and yet he has the defect. We know that the son inherits the Y-chromosome from his father, and a singular X-chromosome from his mother; thus, we can assume he inherits the affected chromosome from his mother. He has no dominant X-chromosome to veil the trail, thus he expresses the trait despite it being recessive. This pattern indicates that the trait resides on the X-chromosome.
Example Question #3 : Inheritance Patterns, Pedigrees, And Genetic Disorders
Consider the pedigree. What is the probability of individual 22 being affected?
Individual 22 is male, and the trait it X-linked recessive. We know he will inherit the Y-chromosome from the unknown father, and a singular X-chromosome from the affected mother. Because the mother is affected, we know she must have two affected X-chromosomes. No matter which chromosome is passed to individual 22, he will inherit the trait.
Example Question #11 : Mendel And Inheritance Patterns
Consider the pedigree. What is the probabilty of individual 18 being affected?
We can tell from the pedigree that the trait is X-linked recessive. Individual 18 is female; her mother is a carrier, and her father is affected. She will receive one affected paternal X-chromosome (100%) and has a 50% chance of received an affected maternal copy. The probability of her being affected is given by the calculation.
Example Question #22 : Genetics
Consider the pedigree. What is the probability of individaul 18 being a carrier?
We can tell from the pedigree that the trait is X-linked recessive. Individual 18 is female; her mother is a carrier, and her father is affected. She will receive one affected paternal X-chromosome (100%) and has a 50% chance of received an affected maternal copy. The probability of her being a carrier is given by the calculation.
Example Question #21 : Genetics
Consider the pedigree. What is the probability of individual 18 being neither affected nor a carrier?
We can tell from the pedigree that the trait is X-linked recessive. Individual 18 is female; her mother is a carrier, and her father is affected. She will receive one affected paternal X-chromosome (100%) and has a 50% chance of received an affected maternal copy. Because we know there is a 100% probability of her receiving at least one affected chromosome (from the father), there is a 0% chance that she will be unaffected. She must be either affected or a carrier.
Example Question #26 : Genetics
Consider the pedigree. If individuals 12 and 17 have a son, what is the probability of him being affected?
We can tell from the pedigree that the trait is X-linked recessive. Individual 12 is a female carrier, meaning she must have the genotype , where is the affected allele. Individual 17 is an unaffected male, meaning he must have genotype . If this couple has a son, there is a 100% chance he will inherit the Y-chromosome from his father, and a 50% chance of receiving the affected allele from the mother; thus, there is a 50% chance that the son will be affected.
Example Question #23 : Genetics
Consider the pedigree. If individual 20 is not affected, what is the probability individual 21 will be a carrier?
We can tell from the pedigree that the trait is X-linked recessive. The mother, individual 20, will have the genotype , where represents the recessive trait. If individual 20 is unaffected, then he has the genotype . The daughter, individual 21, will receive the unaffected paternal X-chromosome and an affected maternal X-chromosome; thus, there is a 100% probability that she will be a carrier.
Example Question #22 : Genetics
When a gene is found on a sex chromosome, it is said to be sex-linked. Because males and females have different combinations of sex chromosomes, the ratio of inheritance for a sex-linked gene can be different between men and women. In mammals, females are homogametic, which means they have two copies of the same chromosome (the X-chromosome). Males are heterogametic, having only one copy of the X-chromosome.
Which of the following scenarios gives both sons and daughters the SAME probability of being born with a disease?
The disease is X-linked recessive. A heterozygous mother is crossed with a healthy father.
The disease is X-linked recessive. A mother with the disease is crossed with a healthy father.
The disease is X-linked dominant. A heterozygous mother is crossed with a father with the disease.
The disease is X-linked dominant. A heterozygous mother is crossed with a healthy father.
The disease is X-linked dominant. A heterozygous mother is crossed with a healthy father.
When a disease is X-linked dominant, a heterozygous mother crossing with a healthy father will result in four different progeny possibilities: a healthy or sick daughter, or a healthy or sick son. In this scenario, sons and daughters both have a 50% probability of having the disease.
Suppose X is a healthy allele and XA is an affected allele.
Heterozygous mother crossed with healthy father: XXA x XY
Child 1: XX (daughter, healthy)
Child 2: XXA (daughter, affected)
Child 3: XY (son, healthy)
Child 4: XAY (son, affected)
Example Question #24 : Cell Biology, Molecular Biology, And Genetics
When a gene is found on a sex chromosome, it is said to be sex-linked. Because males and females have different combinations of sex chromosomes, the ratio of inheritance for a sex-linked gene can be different between men and women. In mammals, females are homogametic, which means they have two copies of the same chromosome (the X-chromosome). Males are heterogametic, having only one copy of the X-chromosome.
Hemophilia is a sex-linked recessive disease. A mother that is a carrier for the disease mates with a healthy male. Which of the following statements is true?
50% of the sons will have hemophilia
50% of the daughters will have hemophilia
The daughters are just as likely to be hemophilic as the sons
None of the children will have hemophilia, because the mother is only a carrier
50% of the sons will have hemophilia
In order for the offspring to be hemophilic, they must not possess the dominant allele, either from the father or the mother. The cross can be given as XHX x XY, where XH is the affected allele and X is the healthy allele. Sons necessarily inherit the Y chromosome from the father, giving the sons possible genotypes of XHY or XY; the sons have a 50% chance of being affected. Daughters necessarily inherit the unaffected X chromosome from the father, giving them the possible genotypes of XHX or XX; the daughters cannot be affected, but have a 50% chance of being carriers.
Example Question #28 : Genetics
Some inherited diseases of the liver, including Wilson's Disease, are primarily or entirely genetically determined. Wilson's Disease results when a defect in a copper transporter in the small intestine occurs, leading to copper build up in gastrointestinal enterocytes. If Wilson's Disease is a Mendelian disease with autosomal recessive inheritance, what are the chances that a child of two carriers will be affected?
Autosomal recessive inheritance means that in order for the Wilson's Disease phenotype to display, the person must have two copies of the mutated gene. If we represent the dominant, wild type allele as , and the mutant, recessive allele as , we can calculate the chance that a child of two carriers (each ) will have Wilson's Disease ().
Using a Punnett square, we can predict the offspring of the two carrier parents.
Child 1: ; wild type
Child 2: ; wild type
Child 3: ; wild type
Child 4: ; Wilson's disease
The chance of a child being affected is one in four. The 1:2:1 genotypic ratio should be familiar to students for heterozygous crosses.
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