Genetics : Inheritance Patterns, Pedigrees, and Genetic Disorders

Study concepts, example questions & explanations for Genetics

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Example Questions

Example Question #11 : Inheritance Patterns, Pedigrees, And Genetic Disorders

A human with the genotype XX is __________.

Possible Answers:

A dwarf

Female

An example of chromosomes failing to separate during meiosis

Male

Correct answer:

Female

Explanation:

Humans with the genotype XX are female, as females get two X chromosomes (one from the mother, one from the father). On the other hand, humans with the genotype XY are male, as males get a Y chromosome from the father and an X chromosome from the mother.

Example Question #12 : Inheritance Patterns, Pedigrees, And Genetic Disorders

If a disease is sex-linked, which chromosome is it carried on? Which gender is more affected by sex-linked diseases?

Possible Answers:

Y-chromosome, female

Y-chromosome, male

XX-chromosome, male

X-chromosome, male

X-chromosome, female

Correct answer:

X-chromosome, male

Explanation:

Sex linked disorders are carried mutations on the X-chromosome. Men are more likely to be affected by sex-linked disorders because of their genetic makeup. Men contain one X-chromosome and one Y-chromosome. Therefore, if there is a mutation on the X-chromosome, it is likely to be passed to the male and expressed. On the other hand, women have two X-chromosomes. They are less likely to express the mutated X-chromosome because they have two copies.

Example Question #13 : Inheritance Patterns, Pedigrees, And Genetic Disorders

What is a Barr body?

Possible Answers:

An inactivated X-chromosome found in males

A type of protein found exclusively in flies

An inactivated Y-chromosome found in females

An inactivated X-chromosome found in females

An inactivated Y-chromosome found in males

Correct answer:

An inactivated X-chromosome found in females

Explanation:

A Barr body is an inactivated X-chromosome found in females. Females have two X chromosomes (XX) while males have one X-chromosome and one Y-chromosome (XY). Only one X-chromosome is expressed in females, and the other is "unexpressed". The inactivated X-chromosome in females is termed a Barr body.

Example Question #11 : Inheritance Patterns, Pedigrees, And Genetic Disorders

Red-green colorblindness is an X-linked recessive disorder. Which of the following scenarios is not a possible method by which this disorder can be inherited?

Possible Answers:

A genotypically normal mother and a colorblind father have a son who is also colorblind.

A carrier mother and a normal father have a son who is colorblind.

A carrier mother and a colorblind father have a daughter who is colorblind.

A colorblind mother and normal father have a daughter who is a carrier for the condition.

Correct answer:

A genotypically normal mother and a colorblind father have a son who is also colorblind.

Explanation:

X-linked disorders are inherited when a parent passes on his or her X-chromosome. Since females have two X-chromosomes, they are less likely to exhibit symptoms of a recessive disorder than males, who have only one. Females are capable of carrying a recessive X-linked trait without expressing it, while males are not. A male must inherit his Y-chromosome from the father and an X-chromosome from the mother, while a female must inherit X-chromosomes from both parents.

If a genotypically healthy mother and a colorblind father have a son, then this child must inherit an X-chromosome from the mother and a Y-chromosome from the father. The mother's chromosome are both genotypically normal, and do not possess the colorblind allele. This means that the son cannot possibly inherit a colorblind allele if the mother is genotypically normal.

All other presented answer represent scenarios that are possible.

Example Question #15 : Inheritance Patterns, Pedigrees, And Genetic Disorders

Females have two X chromosomes, while males have only one. Most of the genes on the X chromosome, however, are expressed at the same level in both females and males. Which of the following statements regarding X chromosomes is correct?

Possible Answers:

Female homozygotes are mosaics.

Calico cats are almost always males.

XIST RNA coats one copy of the X chromosome in females

The nuclei of cells in males contain Barr bodies.

Correct answer:

XIST RNA coats one copy of the X chromosome in females

Explanation:

XIST stands for X-inactivation specific transcript, which acts in the inactivation process in females since only one X will be active. The nuclei of cells in females contain the barr body. Female heterozygotes are mosaics. Calico cats are almost always female.

Example Question #16 : Inheritance Patterns, Pedigrees, And Genetic Disorders

Achondroplasia is an autosomal dominant disease where there is a mutation in the FGF3 gene, causing a constitutively active receptor, leading to severely shortened bones. What form of inheritance is this?

Possible Answers:

abnormal multimeric complex

porphyria

gain of function

loss of function

Correct answer:

gain of function

Explanation:

Achondroplasia is a gain of function, because the gene is always active, therefore you are gaining more than you normally would. In loss of function, you are losing the ability to use that gene/protein, so it is under active — such as in marfan syndrome. Porphyria refers to not having enough enzymes to breakdown products, leading to a build up of the substrate. Abnormal multimeric complex is when you have a structure that involves multiple components to combine to make one; i.e. collagen type I in osteogenesis imperfects.

Example Question #17 : Inheritance Patterns, Pedigrees, And Genetic Disorders

If someone has sickle cell anemia, they are protected against malaria. What is the name of this phenomenon?

Possible Answers:

heteroplasmy

continuous variation 

heterozygous advantage

founder effect

Correct answer:

heterozygous advantage

Explanation:

Sickle cell anemia is a heterozygous genotype. Having this genotype protects against malaria, which is describing the heterozygous advantage (where having the heterozygote genotype is more favorable than being homozygous dominant or recessive). Heteroplasmy is when there is more than 1 type of organelle genome in a cell like mitochondria. Founder effect is a sudden decrease in population size. Continuous variation is a range of phenotypes from allelic variation in multiple genes.

Example Question #13 : Inheritance Patterns, Pedigrees, And Genetic Disorders

Someone has angleman syndrome, which is a disease passed from mother to offspring due to the mother having a deletion at chromosome 15, which type of epigenetic phenomenon is this?

Possible Answers:

multifactorial inheritance

trinucleotide repeat 

mitchondrial inheritance

genomic imprinting

Correct answer:

genomic imprinting

Explanation:

Genomic imprinting is when certain genes are expressed in a parent-of-origin inheritance pattern. In the example, angleman syndrome goes to the offspring if the mother has a deletion in chromosome 15. Mitochondrial inheritance is only from the mother and refers to the number of defective mitochondria that may have been inherited. Trinucleotide repeat is the expansion of 3 nucleotide repeats usually associated with Huntington's. Multifactorial inheritance has to do with polygenic (genes & environment), co inheritance, risk factors, and environmental influence. 

Example Question #19 : Inheritance Patterns, Pedigrees, And Genetic Disorders

There are multiple mutation mediated protein coding changes that can occur during meiosis/replication. Many of the mutations lead to a disease that affects multiple systems; i.e. cardiovascular, immune, endocrinel. What is the term for when a single mutation results in more than one unrelated effect?

Possible Answers:

lionization

frameshift

pleitrophy

modifier gene

Correct answer:

pleitrophy

Explanation:

Pleitrophy occurs when a single mutation causes different systems that are unrelated to be affects. A modifier gene is something that can make a gene worse or better. One example are single nucleotide polymorphisms. Frameshift is an example of one of the mutations that could occur. Lionization is X inactivation that occurs in females.

Example Question #20 : Inheritance Patterns, Pedigrees, And Genetic Disorders

If a child inherits Huntington's Disease from it's parents, what kind of genetic mutation has occurred?

Possible Answers:

co-dominance

autosomal dominance

sex-linked dominance

autosomal recessive

Correct answer:

autosomal dominance

Explanation:

The correct answer here is autosomal dominance. This means that if at least one of the child's allele's is a Huntington allele, they will have the disease later in life. This is the opposite of autosomal recessive. If you chose this option, it may have been because you know the disease is not sex-linked or has anything to with co-dominance (because you can't exhibit and not exhibit the disease at the same time). Autosomal recessive means that you'd need two Huntington alleles to have the disease. Remember that Huntington's disease only needs one of the two alleles to exhibit the disease. 

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