Biology Chapter on Meiosis and Genetic Factors

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Questions and Answers

What type of cell division is responsible for producing haploid gametes?

  • Fertilization
  • Meiosis (correct)
  • Binary fission
  • Mitosis

What is the chromosome composition of a human gamete?

  • 46 chromosomes, one set
  • 23 chromosomes, two sets
  • 23 chromosomes, one set (correct)
  • 46 chromosomes, two sets

During which stage of meiosis do homologous chromosomes pair up?

  • Telophase II
  • Metaphase I
  • Anaphase I
  • Prophase I (correct)

How many resulting cells are produced at the end of meiosis?

<p>Four (A)</p> Signup and view all the answers

What do we call the genetic makeup of organisms that reproduce sexually?

<p>Diploid (D)</p> Signup and view all the answers

What happens to the chromosome number during meiosis?

<p>It halves (C)</p> Signup and view all the answers

What are the initial cells involved in gamete production called?

<p>Diploid cells (A)</p> Signup and view all the answers

After one cycle of meiosis, how many copies of each chromosome do the daughter cells have?

<p>One copy (A)</p> Signup and view all the answers

What is the role of the LDL receptor protein in cholesterol metabolism?

<p>It captures LDL particles and brings them into a cell. (A)</p> Signup and view all the answers

Which gene is associated with the production of the LDL receptor protein?

<p>LDLR (C)</p> Signup and view all the answers

How can mutations in the ApoB gene affect cholesterol levels?

<p>By altering the structure of ApoB, reducing its binding effectiveness. (A)</p> Signup and view all the answers

What is the effect of PCSK9 on LDL receptors?

<p>It attaches to LDL receptors, preventing their recycling. (C)</p> Signup and view all the answers

What does 'LDLRdel1' signify in genetic terminology?

<p>A mutated variant with a deletion of nucleotides. (D)</p> Signup and view all the answers

Which of the following best describes 'genotype'?

<p>The genetic makeup of an individual for a gene. (B)</p> Signup and view all the answers

Which chromosome carries the APOB gene?

<p>Chromosome 2 (D)</p> Signup and view all the answers

What is one potential outcome of having multiple mutations in the LDLR gene?

<p>Decreased function of LDL receptors and high LDL levels. (A)</p> Signup and view all the answers

What is the primary process that leads to the formation of gametes?

<p>Meiosis (B)</p> Signup and view all the answers

How many possible allele combinations can a child inherit from parents that each carry two different alleles for three genes?

<p>64 (A)</p> Signup and view all the answers

What is the primary consequence of mutations in the PCSK9 gene?

<p>Increased breakdown of LDL receptors (C)</p> Signup and view all the answers

Which genes are mentioned as affecting cholesterol levels?

<p>LDLR, APOB, PCSK9 (D)</p> Signup and view all the answers

What percentage of people with clinically high cholesterol and a family history are likely to have mutations in the three genes of focus?

<p>40-60% (B)</p> Signup and view all the answers

If both parents carry the mutated allele LDLRdel1, what is a possible genotype for their child?

<p>LDLRdel1/LDLRdel1 (B)</p> Signup and view all the answers

What label is given to diseases caused by a single gene mutation?

<p>Monogenic (B)</p> Signup and view all the answers

What do siblings inherit from their parents that can contribute to genetic variation?

<p>Shared alleles and unique combinations (B)</p> Signup and view all the answers

What best describes the effect of having mutated alleles in two different genes concerning cholesterol levels?

<p>There is an additive effect on LDL levels (A)</p> Signup and view all the answers

What role does independent assortment play in genetic variation?

<p>It allows for mixing of chromosomes. (A)</p> Signup and view all the answers

Which of the following statements about alleles is correct?

<p>Different combinations of alleles affect physical appearance and body functions. (A)</p> Signup and view all the answers

How is heart disease in individuals without mutations in the three main genes described?

<p>It may be influenced by other genes (D)</p> Signup and view all the answers

What feature of meiosis contributes to genetic variation aside from independent assortment?

<p>Recombination (D)</p> Signup and view all the answers

What role do proteins play in cholesterol management within cells?

<p>Proteins assist in breaking down and transferring cholesterol (D)</p> Signup and view all the answers

What can be inferred about the relationship between LDLR, PCSK9, and APOB genes?

<p>They collectively influence cholesterol processing (B)</p> Signup and view all the answers

What is one potential outcome of mutations in other proteins not directly discussed?

<p>They may complicate cholesterol management (B)</p> Signup and view all the answers

What is a polygenic trait?

<p>A trait influenced by multiple genes. (D)</p> Signup and view all the answers

Why do scientists assign scores to genes in their research?

<p>To evaluate their influence on cholesterol levels. (C)</p> Signup and view all the answers

What does a pedigree diagram help geneticists to identify?

<p>The occurrence of particular alleles across generations. (C)</p> Signup and view all the answers

How do sexually reproducing organisms create offspring?

<p>By combining genetic information from two parents. (D)</p> Signup and view all the answers

What role do gametes play in reproduction?

<p>They carry half of the genetic information from each parent. (C)</p> Signup and view all the answers

What is indicated by the polygenic risk score in relation to LDL levels?

<p>It correlates with the average LDL levels in individuals. (D)</p> Signup and view all the answers

What happens during the process of fertilization?

<p>Only one sperm cell enters the egg cell membrane. (C)</p> Signup and view all the answers

What is a significant finding about human traits related to genetics?

<p>Many human traits are influenced by multiple gene variants. (A)</p> Signup and view all the answers

What is the primary result of the crossing over process during meiosis?

<p>Recombinant chromosomes are formed (B)</p> Signup and view all the answers

How does the proximity of genes on a chromosome influence their inheritance?

<p>Close genes are more likely to be inherited together (A)</p> Signup and view all the answers

What term describes genes located on the same chromosome that tend to be inherited together?

<p>Linked genes (B)</p> Signup and view all the answers

Which of the following scenarios illustrates the concept of crossing over?

<p>Two homologous chromosomes swap segments of their DNA (B)</p> Signup and view all the answers

Why might siblings inherit different sets of alleles even from the same parents?

<p>Independent assortment and crossing over affect allele combinations (A)</p> Signup and view all the answers

Which outcome results from an unexpected combination of alleles during offspring formation?

<p>The formation of recombinant chromosomes (C)</p> Signup and view all the answers

What is the consequence of genes being located far apart on the same chromosome?

<p>Greater probability of being separated by crossing over (B)</p> Signup and view all the answers

What might be the result of crossing over that alters phenotypes unexpectedly?

<p>Unique combinations of alleles are produced (B)</p> Signup and view all the answers

Flashcards

Allele

A specific version of a gene that can lead to a different protein structure and function.

APOB gene

A gene located on chromosome 2 that codes for a protein called ApoB, which helps LDL particles bind to the LDL receptor.

PCSK9 gene

A gene located on chromosome 1 that codes for a protein called PCSK9, which can bind to LDL receptors and prevent their recycling back to the cell membrane.

Genotype

The set of alleles a person carries for a specific gene.

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Deletion mutation

A type of gene mutation that results in the deletion of nucleotides, leading to missing amino acids in the protein.

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Cholesterol homeostasis

The process of maintaining a stable level of cholesterol in the blood.

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ApoB protein

A protein involved in cholesterol processing that can be affected by mutations in the APOB gene, leading to fewer LDL particles being captured and brought into cells.

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Genetics

The scientific study of genes, their variations, and their effects on individual traits.

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Polygenic Risk Score

A genetic score reflecting individual risk for a trait based on multiple genes.

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Polygenic Inheritance

The study of how multiple genes interact to influence a particular trait.

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Pedigree

A diagram used by geneticists to trace inheritance patterns of specific traits through generations of related individuals.

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Gametes (egg and sperm)

Reproductive cells containing half the genetic information of a parent.

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Fertilization

The process in which an egg cell and a sperm cell fuse together to create a fertilized egg.

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Genome

The complete set of genes an individual carries.

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PCSK9 gene mutation

A mutation in this gene can reduce the number of LDL receptors on the cell surface, leading to higher levels of cholesterol in the blood.

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Monogenic disease

When a single gene mutation leads to a disease, it's classified as monogenic.

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Additive effect of multiple cholesterol genes

Having mutated alleles in two genes that affect cholesterol processing can result in even higher LDL cholesterol levels.

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Other genes and factors affecting cholesterol

Many factors besides the three genes of focus (LDLR, PCSK9, and APOB) can influence cholesterol levels.

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Other proteins involved in cholesterol processing

Mutations in genes coding for proteins involved in cholesterol processing can also affect cholesterol levels.

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Multifactorial causes of heart disease

Heart disease can have multiple genetic and environmental causes, not just monogenic mutations.

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Haploid

A cell with one set of chromosomes (23 in humans), found in gametes (sperm and egg).

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Diploid

A cell with two sets of chromosomes (46 in humans), found in most body cells.

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Meiosis

The process of cell division that produces gametes (sex cells), halving the chromosome number.

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Chromosome Duplication

Chromosomes are duplicated before meiosis begins. These two identical DNA molecules are held together near their center.

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Meiosis I

During the first stage of meiosis, paired chromosomes separate, forming two daughter cells with one copy of each duplicated chromosome.

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Meiosis II

During the second stage of meiosis, duplicated chromosomes are split, forming four daughter cells (gametes) with one set of chromosomes.

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Inheritance of Chromosomes

One set of chromosomes is inherited from the mother (egg) and one set is inherited from the father (sperm).

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Zygote Formation

The combination of chromosomes from the egg and sperm creates a diploid zygote, the first cell of a new organism.

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Independent Assortment

The process of shuffling chromosomes during meiosis, where each chromosome pair separates independently, leading to unique combinations of chromosomes in the offspring.

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High Risk Genotype

A combination of alleles that can lead to higher LDL cholesterol levels in the blood, potentially increasing heart disease risk.

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Genetic Variation

The possibility of inheriting different allele combinations from parents, resulting in more variation among siblings.

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Linked Genes

Two genes located close together on the same chromosome are more likely to be inherited together.

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Crossing Over

The process by which chromosomes exchange genetic material during meiosis, leading to new combinations of alleles.

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Recombinant Chromosomes

Chromosomes that have exchanged genetic material during crossing over, resulting in a unique combination of alleles.

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Distance Between Genes and Crossing Over

The likelihood of two genes being separated by crossing over is higher if they are located further apart on the same chromosome.

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Sibling Variation in Inheritance

Even with similar genes, siblings can inherit different combinations of alleles due to independent assortment and crossing over, leading to variations in traits like cholesterol levels.

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Multifactorial Causes

The combined effect of genes and environmental factors on a complex trait like cholesterol levels.

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Study Notes

Genetics and Cholesterol Levels

  • Mutations in genes related to cholesterol levels can disrupt protein structure and function, impacting cholesterol regulation.
  • LDL receptor (LDLR), ApoB, and PCSK9 proteins are involved in cholesterol processing; their genes are located on different chromosomes (19, 2, and 1).
  • Mutations, such as deletions, in these genes can alter protein structure, impacting cholesterol homeostasis.
  • Mutations in ApoB can alter protein structure, preventing LDL capture by LDLR.
  • Mutations in PCSK9 can increase protein function, accelerating LDL receptor breakdown, decreasing receptor numbers on cell surfaces, leading to higher cholesterol levels.
  • High cholesterol levels contribute to plaque formation in blood vessels, potentially leading to coronary artery disease.
  • Monogenic diseases are caused by mutations in a single gene.
  • Up to 40-60% of people with high cholesterol and a family history have mutations in LDLR, APOB, or PCSK9.
  • Polygenic risk scores can predict the risk of high cholesterol; the higher score correlates to higher levels of LDL.
  • The combination of multiple mutated alleles in genes linked to cholesterol processing can lead to higher cholesterol.

The Genetic Makeup of Gametes

  • Gametes (sperm and eggs) contain half the genetic information from each parent.
  • Human gametes contain 23 chromosomes, one of each type, representing one allele per gene.
  • Diploid cells (body cells) have two sets of chromosomes (23 pairs) and two alleles per gene.
  • Meiosis is the process of creating gametes, involving two divisions resulting in 4 haploid cells each with one set of chromosomes and one allele of each gene.
  • Chromosomes replicate before meiosis, and homologous chromosomes (matching pairs of chromosomes) can swap corresponding segments through crossing over, creating variation in gamete chromosomes.
  • Independent assortment of alleles allows for diverse combinations of chromosomes. This randomness, coupled with crossing-over, ensures genetic variation in offspring.
  • Individuals don't necessarily look alike because of different combinations of alleles they inherit from parents.
  • This genetic variation, resulting from different allele combinations, provides a basis for diversity amongst offspring.

Meiosis and Genetic Variation

  • Meiosis is a type of cell division that reduces the number of chromosomes in half, producing haploid gametes.
  • Crossing over occurs during meiosis, exchanging portions between homologous chromosomes.
  • Independent assortment during meiosis shuffles maternal and paternal chromosomes into gametes randomly.
  • These processes produce diverse combinations of alleles in gametes, leading to genetic variation in offspring.
  • Genetic diversity from multiple allele combinations is important for adaptation and survival in changing environments.

Gene Expression and Phenotype

  • Genotype refers to the genetic code whereas phenotype (physical traits) refers to observable traits.
  • Genotype impacts phenotype through gene expression.
  • Multiple genes influence an individual's phenotype, such as in the case of high cholesterol.
  • Many genes contribute to specific traits; small variations can accumulate to significant differences in traits, such as cholesterol levels.

Prediction of Heart Disease Risks Using Genetics

  • The combination of alleles in multiple genes contributes to overall cholesterol levels.
  • Genes related to cholesterol processing can vary in their influence on the level of cholesterol.
  • Multiple factors influence heart disease risk, not just genetic makeup.
  • Determining the genetic components that play a role in heart disease is ongoing.
  • Scientists use GWAS (genome-wide association studies) to look for genetic variations associated with different traits.

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