Podcast
Questions and Answers
Which scenario increases recurrence risk the most for a multifactorial disorder?
Which scenario increases recurrence risk the most for a multifactorial disorder?
- The parents are of advanced age.
- The parents are first cousins. (correct)
- The parents have different ethnic backgrounds.
- The parents have similar heights.
What is the inheritance pattern when a mother has a mitochondrial disease?
What is the inheritance pattern when a mother has a mitochondrial disease?
- Only the daughters inherit the disease.
- Only the sons inherit the disease.
- None of the children inherit the disease.
- All of the children inherit the disease. (correct)
If Jack has a mitochondrial disease and Sally is healthy and pregnant, what is the risk that their child will inherit the disease?
If Jack has a mitochondrial disease and Sally is healthy and pregnant, what is the risk that their child will inherit the disease?
- 100%
- 50%
- 0% (correct)
- 25%
Which of the following is a characteristic of the mitochondrial genome?
Which of the following is a characteristic of the mitochondrial genome?
What is the result when a conception is trisomic for chromosome 7, and during the first cell division, the paternal chromosome 7 is lost?
What is the result when a conception is trisomic for chromosome 7, and during the first cell division, the paternal chromosome 7 is lost?
If a patient has cystic fibrosis (CF), what is the risk that an unaffected full sibling carries a mutated CF gene?
If a patient has cystic fibrosis (CF), what is the risk that an unaffected full sibling carries a mutated CF gene?
What is the risk that the child of a mother with cystic fibrosis will be a carrier of the disease?
What is the risk that the child of a mother with cystic fibrosis will be a carrier of the disease?
When is the recurrence risk for a multifactorially inherited birth defect higher?
When is the recurrence risk for a multifactorially inherited birth defect higher?
What occurs when mutations in different autosomal recessive genes result in the development of leukemia in Fanconi anemia patients?
What occurs when mutations in different autosomal recessive genes result in the development of leukemia in Fanconi anemia patients?
If Joe's brother has cystic fibrosis, what is the risk that Joe is a carrier?
If Joe's brother has cystic fibrosis, what is the risk that Joe is a carrier?
What mechanism causes Fragile X syndrome?
What mechanism causes Fragile X syndrome?
What is the term for the phenomenon where the severity of myotonic dystrophy increases with each succeeding generation?
What is the term for the phenomenon where the severity of myotonic dystrophy increases with each succeeding generation?
How are Barbara and Blaine related?
How are Barbara and Blaine related?
What inheritance pattern should be discussed with the parents of a baby diagnosed with achondroplasia shortly after birth?
What inheritance pattern should be discussed with the parents of a baby diagnosed with achondroplasia shortly after birth?
What enzyme is utilized by stem cells and neoplastic cells to lengthen telomeres?
What enzyme is utilized by stem cells and neoplastic cells to lengthen telomeres?
Which of the following is an accurate statement regarding chromosome replication?
Which of the following is an accurate statement regarding chromosome replication?
The leading strand of DNA in the replication fork is synthesized by which of the following mechanisms?
The leading strand of DNA in the replication fork is synthesized by which of the following mechanisms?
What is defective in individuals with Fanconi anemia, characterized by chromosome breakage and rearrangements?
What is defective in individuals with Fanconi anemia, characterized by chromosome breakage and rearrangements?
What is the way bases are paired in a double helix of DNA?
What is the way bases are paired in a double helix of DNA?
Which of the following is a genetic metabolic disease involving degradation pathways?
Which of the following is a genetic metabolic disease involving degradation pathways?
In the context of multifactorial disorders, which of the following scenarios is most likely to elevate the recurrence risk?
In the context of multifactorial disorders, which of the following scenarios is most likely to elevate the recurrence risk?
What is the inheritance pattern observed in a family when the mother is affected by a mitochondrial disease?
What is the inheritance pattern observed in a family when the mother is affected by a mitochondrial disease?
If a father has a mitochondrial disease and the mother is unaffected, what is the chance their child will inherit the mitochondrial disease?
If a father has a mitochondrial disease and the mother is unaffected, what is the chance their child will inherit the mitochondrial disease?
Which statement accurately describes a key characteristic of the mitochondrial genome?
Which statement accurately describes a key characteristic of the mitochondrial genome?
A conception is trisomic for chromosome 7. During the first cell division, the paternal chromosome 7 is lost, leaving two maternal chromosome 7’s in the daughter cells. What is this phenomenon known as?
A conception is trisomic for chromosome 7. During the first cell division, the paternal chromosome 7 is lost, leaving two maternal chromosome 7’s in the daughter cells. What is this phenomenon known as?
If a sibling is diagnosed with cystic fibrosis (CF), what is the probability that an unaffected full sibling is a carrier of the mutated CF gene?
If a sibling is diagnosed with cystic fibrosis (CF), what is the probability that an unaffected full sibling is a carrier of the mutated CF gene?
What is the likelihood that a child born to a mother with cystic fibrosis (CF) will be a carrier of the disease?
What is the likelihood that a child born to a mother with cystic fibrosis (CF) will be a carrier of the disease?
Under which of the following conditions is the recurrence risk for a multifactorially inherited birth defect generally higher?
Under which of the following conditions is the recurrence risk for a multifactorially inherited birth defect generally higher?
Mutations in different genes causing the same phenotype is best described by what genetic term?
Mutations in different genes causing the same phenotype is best described by what genetic term?
If an individual's brother has cystic fibrosis, what is the chance that the individual is a carrier of the disease?
If an individual's brother has cystic fibrosis, what is the chance that the individual is a carrier of the disease?
What is the mechanism underlying Fragile X syndrome?
What is the mechanism underlying Fragile X syndrome?
What is the term for the genetic phenomenon where the severity of a disease increases in successive generations?
What is the term for the genetic phenomenon where the severity of a disease increases in successive generations?
Two individuals are related such that they share a set of grandparents. How are these individuals related?
Two individuals are related such that they share a set of grandparents. How are these individuals related?
A baby is born with achondroplasia. What is the most appropriate inheritance pattern to discuss with the parents?
A baby is born with achondroplasia. What is the most appropriate inheritance pattern to discuss with the parents?
Which enzyme is utilized by stem cells and neoplastic cells to maintain telomere length?
Which enzyme is utilized by stem cells and neoplastic cells to maintain telomere length?
Which statement is most accurate regarding chromosome replication?
Which statement is most accurate regarding chromosome replication?
How is the leading strand synthesized during DNA replication?
How is the leading strand synthesized during DNA replication?
What cellular mechanism is defective in individuals with Fanconi anemia?
What cellular mechanism is defective in individuals with Fanconi anemia?
How do bases pair in a standard DNA double helix?
How do bases pair in a standard DNA double helix?
An example of a metabolic disease involving degradation pathways is which of the following?
An example of a metabolic disease involving degradation pathways is which of the following?
What is the effect of some antineoplastic drugs?
What is the effect of some antineoplastic drugs?
Which cells have a haploid number of chromosomes?
Which cells have a haploid number of chromosomes?
Familial hypercholesterolemia can be caused by mutations in which genes?
Familial hypercholesterolemia can be caused by mutations in which genes?
Genetic metabolic diseases are commonly due to mutations in what?
Genetic metabolic diseases are commonly due to mutations in what?
In metabolic genetic diseases, what explains why heterozygotes are frequently normal?
In metabolic genetic diseases, what explains why heterozygotes are frequently normal?
Sickle cell disease results from what?
Sickle cell disease results from what?
What causes Beta-thalassemia?
What causes Beta-thalassemia?
What establishes the anterior/posterior axis in human development?
What establishes the anterior/posterior axis in human development?
Advanced pateranal age has an elevated risk of what?
Advanced pateranal age has an elevated risk of what?
What mutation is oncogenic when loss of function occurs in both alleles?
What mutation is oncogenic when loss of function occurs in both alleles?
If Barbara and Blaine are first cousins, what is the risk Barbara will be a carrier of Hemophilia A?
If Barbara and Blaine are first cousins, what is the risk Barbara will be a carrier of Hemophilia A?
If Cassie and Blaine are having fraternal twins, what is the risk for their daughter to have Hemophilia A?
If Cassie and Blaine are having fraternal twins, what is the risk for their daughter to have Hemophilia A?
If Cassie and Blaine are having fraternal twins, what is the risk for their son to have Hemophilia A?
If Cassie and Blaine are having fraternal twins, what is the risk for their son to have Hemophilia A?
What is the recurrence risk for a couple to have another child with achondroplasia?
What is the recurrence risk for a couple to have another child with achondroplasia?
The chromosomes in stem cells and neoplastic cells do not generally shorten with each cell division because of what?
The chromosomes in stem cells and neoplastic cells do not generally shorten with each cell division because of what?
Some female carriers of hemophilia B (an X-linked recessive disease) have symptoms of the disease. What is the most likely explanation for how this occurs?
Some female carriers of hemophilia B (an X-linked recessive disease) have symptoms of the disease. What is the most likely explanation for how this occurs?
Flashcards
First cousins as parents?
First cousins as parents?
Increases recurrence risk most in multifactorial disorders when parents are related.
Mitochondrial inheritance?
Mitochondrial inheritance?
All offspring inherit the mitochondrial disease from the mother.
Uniparental disomy
Uniparental disomy
A condition where both chromosomes in a pair are inherited from one parent.
Risk of sibling carrying CF gene?
Risk of sibling carrying CF gene?
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Risk of carrier if mother has CF?
Risk of carrier if mother has CF?
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Multiple genes causing same disease?
Multiple genes causing same disease?
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Cystic Fibrosis Carrier Risk?
Cystic Fibrosis Carrier Risk?
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Fragile X syndrome cause?
Fragile X syndrome cause?
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Myotonic dystrophy severity increase?
Myotonic dystrophy severity increase?
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Risk as carrier of Hemophilia A?
Risk as carrier of Hemophilia A?
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Fraternal Twin affected by hemophilia A?
Fraternal Twin affected by hemophilia A?
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Relationship between Barbara and Blaine?
Relationship between Barbara and Blaine?
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Achondroplasia inheritance pattern?
Achondroplasia inheritance pattern?
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Enzyme lengthens telomeres?
Enzyme lengthens telomeres?
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Antineoplastic drugs inhibiting?
Antineoplastic drugs inhibiting?
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Chromosome replication?
Chromosome replication?
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Synthesizing Leading Strand?
Synthesizing Leading Strand?
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Base pairing in DNA?
Base pairing in DNA?
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Glutamic acid to valine causes?
Glutamic acid to valine causes?
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Loss of function when oncogenic?
Loss of function when oncogenic?
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Mitochondrial Genome?
Mitochondrial Genome?
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Increased Recurrence Risk?
Increased Recurrence Risk?
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Risk of child having mitochondrial disease
Risk of child having mitochondrial disease
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Fanconi Anemia defect.
Fanconi Anemia defect.
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Hemophilia B in Females?
Hemophilia B in Females?
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Haploid number of chromosomes?
Haploid number of chromosomes?
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Familial Hypercholesterolemia?
Familial Hypercholesterolemia?
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Genetic metabolic diseases?
Genetic metabolic diseases?
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Genetic metabolic disease?
Genetic metabolic disease?
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Why are heterozygotes okay?
Why are heterozygotes okay?
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Beta-thalassemia?
Beta-thalassemia?
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Anterior/Posterior Axis?
Anterior/Posterior Axis?
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Leading Strand DNA synthesis?
Leading Strand DNA synthesis?
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Advanced Paternal Age
Advanced Paternal Age
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Study Notes
- Recurrence risk is increased most for multifactorial disorders when the parents are first cousins.
- In families with a mitochondrial disease where one parent is affected, all children of the affected mother will inherit the disease.
- If Jack is diagnosed with a mitochondrial disease and his wife Sally is pregnant, the risk that their child will have the disease is 0%.
- A characteristic of the mitochondrial genome is the absence of introns.
- In a conception trisomic for chromosome 7, if the paternal chromosome 7 is lost during the first cell division, the daughter cells will have uniparental disomy.
- An unaffected full sibling of a patient with cystic fibrosis (CF) has a 2 in 3 risk of carrying a mutated CF gene.
- The risk that the child of a mother with cystic fibrosis will be a carrier of the disease is 100%.
- The recurrence risk for a multifactorially inherited birth defect is higher when the proband is of the less commonly affected sex.
- Mutations in different autosomal recessively inherited genes can result in the development of leukemia in Fanconi anemia patients due to locus heterogeneity.
- If Joe's brother has cystic fibrosis, the risk that Joe is a carrier is 2/3.
- Fragile X syndrome, a common cause of mental retardation, generally acts like an X-linked recessive disease, and is caused by a triplet repeat expansion.
- In myotonic dystrophy, the severity of the disease increases with each succeeding generation, a phenomenon called anticipation.
Hemophilia A Example
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Barbara's risk of being a carrier for hemophilia A is 100%.
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Cassie and Blaine's daughter's (the fraternal twin) risk of being affected with hemophilia A is 50%.
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Cassie and Blaine's son's (the fraternal twin) risk of having hemophilia A is 50%.
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Barbara and Blaine are first cousins.
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Baby John was diagnosed with achondroplasia shortly after birth, autosomal dominant inheritance should be discussed with the parents.
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The recurrence risk for a couple to have another child with achondroplasia is ~0%.
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Human cells have a finite lifespan, contributing to aging, while stem cells and neoplastic cells have indefinite lifespans.
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Chromosomes in cells get progressively shorter with each cell division due to telomere sequences shortening.
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Stem cells and neoplastic cells utilize the enzyme telomerase to lengthen the telomeres.
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Some antineoplastic drugs act by inhibiting topoisomerase.
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Chromosome replication is semiconservative.
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The leading strand of DNA in the replication fork is synthesized continuously by DNA polymerase delta.
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Fanconi anemia, an autosomal recessive disease characterized by chromosome breakage, is due to a defective DNA repair enzyme.
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Some female carriers of hemophilia B have symptoms because the X chromosome for the normal gene is inactivated in a majority of cells in the body.
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In a double helix of DNA, the base pairs are A-T and G-C.
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Secondary spermatocytes have a haploid number of chromosomes.
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Familial hypercholesterolemia is caused by homozygosity or heterozygosity for a mutation in the LDL receptor gene.
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Most genetic metabolic diseases are caused by mutations in genes that code for enzymes.
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Phenylketonuria is a genetic metabolic disease involving degradation pathways.
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In metabolic genetic diseases, heterozygotes are generally normal because heterozygotes produce enough enzymes for normal metabolic function.
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A glutamic acid to valine substitution in the beta-globin subunit of hemoglobin causes sickle cell disease.
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Reduced or absent synthesis of β-globin subunits of hemoglobin results in β-thalassemia.
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The primitive streak establishes the anterior/posterior axis in human development.
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Increased paternal age is associated with a risk of having a child with achondroplasia.
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A loss of function mutation in a tumor suppressor gene is oncogenic when it occurs in both alleles.
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