Chapter 17 Flashcards
Discuss Mendel’s experiments on pea plants and how they contribute to our knowledge of inheritance
Gregor Mendel, often called the “father of genetics,” was an Austrian monk who made significant contributions to the field of biology through his experiments on pea plants. His work laid the foundation for our understanding of inheritance
Mendel chose pea plants for his experiments due to their rapid life cycle and the production of numerous seeds. He conducted his research over a decade, experimenting with almost 30,000 pea plants
Through his experiments, Mendel developed three principles of inheritance that described the transmission of genetic traits:
1. Principle of Segregation: Each inherited trait is defined by a pair of genes. Offspring receive one genetic allele from each parent
- Principle of Independent Assortment: Genes for different traits are sorted separately so that the inheritance of one trait is not dependent on the inheritance of another
- Principle of Dominance: An organism with at least one dominant allele will display the effect of the dominant allele
Interestingly, Mendel’s experiments showed that traits are passed on from one generation to the next in a predictable manner. He demonstrated that traits are inherited independently of each other and that they can be dominant or recessive. His experiments also proved that genes are discrete and do not blend together
These principles greatly expanded our understanding of genetic inheritance and led to the development of new experimental methods. Today, they form the basis of Mendelian genetics, a subfield of genetics that focuses on the study of inheritance and genetic variation. Mendel’s work applies to all living things that reproduce sexually, including humans
Define allele
An allele is one of two or more versions of a gene that an individual inherits from each parent. These versions can be a single base or a segment of bases at a given genomic location. If the two alleles are the same, the individual is homozygous for that allele. If the alleles are different, the individual is heterozygous. Typically, we call them either normal or wild-type alleles, or abnormal, or mutant alleles
Describe the difference between dominant and recessive traits
Dominant Traits: These traits are always expressed when the connected allele is dominant, even if only one copy exists. Dominant traits mask the expression of recessive alleles. For example, the allele for brown eyes is dominant, so an individual with at least one brown eye allele will have brown eyes
Recessive Traits: These traits are expressed only if both the connected alleles are recessive. If one of the alleles is dominant, then the associated characteristic is less likely to manifest. For instance, the allele for blue eyes is recessive, so an individual must have two blue eye alleles to have blue eyes
In summary, dominant traits can be inherited from just one parent and are expressed even if only one copy of the dominant allele is present. On the other hand, recessive traits require two copies of the recessive allele to be expressed and must be inherited from both parents
Distinguish between genotype and phenotype
Genotype: This refers to the genetic makeup of an individual, the specific combination of genes they inherit from their parents. It’s like the blueprint that determines various traits and characteristics. For each individual trait, a cell contains instructions on two alleles, which are alternative forms of the gene obtained from the mother and the father. An individual’s genotype refers to the combination of these two alleles, and can be either homozygous (the alleles are the same) or heterozygous (the alleles are different)
**Phenotype:* This is the observable physical, physiological, and behavioral traits that result from the interaction between an individual’s genes and their environment. It’s what you can see and measure, such as hair color, height, and the presence of certain diseases. The sum of an organism’s observable characteristics is their phenotype. A key difference between phenotype and genotype is that, while genotype is inherited from an organism’s parents, the phenotype is not
In simple terms, genotype is the genetic code, while phenotype is how those genes manifest in the actual person
Predict the outcome of genetic crosses using a Punnett square
- Identify the genotypes of the parents: The first step is to identify the genotypes (the combination of genes) of the parent organisms
- List all possible combinations of alleles: All possible combinations of the parental alleles are listed along the top (for one parent) and side (for the other parent) of a grid. This represents their meiotic segregation into haploid gametes
- Fill in the Punnett square: Each box in the Punnett square represents a possible combination of alleles from the parents. Fill in each box with the combination of alleles that corresponds to that row and column
- Analyze the results: The completed Punnett square gives the probable outcome of the genetic cross. You can determine the genotypic ratio by counting the number of occurrences of each genotype. Based on the possible genotypes, you can assess the phenotypes
Define Mendel’s law of segregation and law of independent assortment
Law of Segregation: This law states that the two alleles for each trait segregate, or separate, during the formation of gametes. During the formation of new zygotes, the alleles will combine at random with other alleles. The law of segregation ensures that a parent, with two copies of each gene, can pass on either allele. Both alleles will have the same chance of ending up in a zygote
Law of Independent Assortment: This law states that the alleles of two (or more) different genes get sorted into gametes independently of one another. In other words, the allele a gamete receives for one gene does not influence the allele received for another gene. This law describes the random inheritance of genes from maternal and paternal sources
Relate the behavior of chromosomes during meiosis to Mendel’s laws of inheritance
Mendel’s Law of Segregation and Meiosis: This law states that the two alleles for each trait segregate, or separate, during the formation of gametes. This is mirrored in the process of meiosis, where homologous chromosomes separate so that each sperm or egg receives just one member of the pair. This process is known as segregation
Mendel’s Law of Independent Assortment and Meiosis: This law states that the alleles of two (or more) different genes get sorted into gametes independently of one another. During meiosis, homologous chromosome pairs migrate as discrete structures that are independent of other chromosome pairs. The sorting of chromosomes from each homologous pair into pre-gametes appears to be random. This random assortment of genes is the physical basis for Mendel’s law of independent assortment
In summary, the behavior of chromosomes during meiosis can explain why genes are inherited according to Mendel’s laws. The physical movement of chromosomes during meiosis corresponds to the segregation and independent assortment of genes, providing a physical basis for Mendel’s laws of inheritance
Explain the concept of probability and calculate probabilities of inheritance
In genetics, probability is used to predict the chances of an offspring inheriting a particular trait. For instance, if the event you were looking for was a wrinkled pea seed, and you saw it 1,850 times out of the 7,324 total seeds you examined, the empirical probability of getting a wrinkled seed would be 1,850 / 7,324 = 0.253, or very close to 1 in 4 seeds
Now, let’s move on to calculating probabilities of inheritance:
In genetics, the calculation of inheritance probabilities often involves the use of Punnett squares. However, for complex crosses involving many genes, it becomes more practical to use probability calculations
Two key rules:
The Product Rule: The joint probability of two independent events (both occurring) is the product of their individual probabilities. This rule is used when we are interested in the probability of two events happening at the same time.
The Sum Rule: The combined probability of two mutually exclusive events (either occurring) is the sum of their individual probabilities. This rule is used when we are interested in the probability of either of two events happening
For example, consider a genetic cross between two heterozygous pea plants (Rr x Rr), where ‘R’ represents the dominant allele for round seeds and ‘r’ represents the recessive allele for wrinkled seeds. Using the product rule, the probability of an offspring inheriting two ‘r’ alleles (and thus having wrinkled seeds) is 1/2 (chance of inheriting ‘r’ from the first parent) * 1/2 (chance of inheriting ‘r’ from the second parent) = 1/4
Apply the product rule to problems involving genetic crosses
- Identify the individual probabilities: Determine the probability of each individual event. In a genetic cross, this would be the probability of inheriting a particular allele from each parent
- Multiply the probabilities: Multiply the individual probabilities together to get the joint probability. This will give you the probability of both events (i.e., inheriting both alleles) occurring together
For example, consider a cross between two heterozygous pea plants (Rr x Rr), where ‘R’ represents the dominant allele for round seeds and ‘r’ represents the recessive allele for wrinkled seeds. The probability of an offspring inheriting an ‘r’ allele from one parent is 1/2, and the same is true for the other parent. Using the product rule, the probability of an offspring inheriting two ‘r’ alleles (and thus having wrinkled seeds) is 1/2 (chance of inheriting ‘r’ from the first parent) * 1/2 (chance of inheriting ‘r’ from the second parent) = 1/4
Remember, the product rule assumes that the events are independent, meaning the outcome of one event does not affect the outcome of the other. In genetics, this is generally a safe assumption due to the law of independent assortment
Discuss sex Chromosomes and describe X-Linked inheritance patterns
Sex Chromosomes: Sex chromosomes are a type of chromosome involved in sex determination. Humans and most other mammals have two sex chromosomes, X and Y, that in combination determine the sex of an individual. Females have two X chromosomes in their cells, while males have one X and one Y. The X chromosome is always present as the 23rd chromosome in the ovum, while either an X or Y chromosome may be present in an individual sperm
X-Linked Inheritance Patterns: X-linked inheritance refers to the patterns of inheritance of genes located on the X chromosome. There are two main types of X-linked inheritance: X-linked recessive and X-linked dominant
- X-linked recessive: X-linked recessive disorders are caused by variants in genes on the X chromosome. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a variant would have to occur in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females
- X-linked dominant: X-linked dominant disorders are caused by variants in genes on the X chromosome. In males (who have only one X chromosome), a variant in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a variant in one of the two copies of the gene in each cell is sufficient to cause the disorder. Females may experience less severe symptoms of the disorder than males
A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. This is because males inherit their X chromosome from their mother and their Y chromosome from their father
Explain why X-linked recessive traits are more likely to occur in males
X-linked recessive traits are more likely to occur in males due to the structure of their sex chromosomes. Males have one X and one Y chromosome. If a male inherits a recessive allele (or a “bad” allele) on his X chromosome from his mother, he doesn’t have a second X chromosome (like females do) to potentially carry the dominant allele (or a “good” allele) to mask the effects of the recessive one
In contrast, females have two X chromosomes. So, even if they inherit a recessive allele on one X chromosome, they could still have a dominant allele on the other X chromosome that can mask the effects of the recessive allele. This is why females are typically carriers of X-linked recessive traits, while males are more likely to express these traits
Relate dominant and recessive traits to protein function
- Dominant Traits: A dominant trait is expressed when at least one dominant allele is present. The dominant allele codes for a functional protein that results in the expression of the trait. Even if there’s a recessive allele present, the functional protein from the dominant allele can often carry out the necessary function, masking the effect of the recessive allele
- Recessive Traits: A recessive trait is expressed when two copies of a recessive allele are present. Recessive alleles often code for a non-functional or less functional protein. If a dominant allele is present, the functional protein it codes for can often compensate for the lack of function of the protein coded by the recessive allele
In the case of X-linked recessive traits, males are more likely to express these traits because they have only one X chromosome. If the X chromosome carries a recessive allele (which codes for a non-functional or less functional protein), there’s no corresponding allele on the Y chromosome to mask its effect
Discuss other forms of inheritance (pleiotropy, incomplete dominance and codominance)
- Pleiotropy: Pleiotropy occurs when one gene influences two or more seemingly unrelated phenotypic traits. For example, a human genetic disorder called Marfan syndrome is caused by a mutation in one gene, yet it affects many aspects of growth and development, including height, vision, and heart function. This is an example of pleiotropy, or one gene affecting multiple characteristics
- Incomplete Dominance: Incomplete dominance is when a dominant allele, or form of a gene, does not completely mask the effects of a recessive allele, and the organism’s resulting physical appearance shows a blending of both alleles. For example, in the snapdragon, Antirrhinum majus, a cross between a homozygous white-flowered plant and a homozygous red-flowered plant will produce offspring with pink flowers. This type of relationship between alleles, with a heterozygote phenotype intermediate between the two homozygote phenotypes, is called incomplete dominance
- Codominance: Codominance refers to a type of inheritance in which two versions (alleles) of the same gene are expressed separately to yield different traits in an individual. That is, instead of one trait being dominant over the other, both traits appear, such as in a plant or animal that has more than one pigment color. For example, people with the AB blood type have one A allele and one B allele. Because both alleles are expressed at the same time, their blood type is AB
Discuss how the environment plays a critical role in determining the expression of traits
- Internal and External Factors: Both internal and external environmental factors can influence gene expression. Internal factors include aspects like hormones and metabolism, while external factors can include drugs, chemicals, temperature, and light
- Influence on Phenotype: Environmental factors such as diet, temperature, oxygen levels, humidity, light cycles, and the presence of mutagens can all impact which of an organism’s genes are expressed, which ultimately affects the organism’s phenotype. Even genetically identical organisms exposed to controlled experimental conditions can have different phenotypes, pointing to the power of subtle environmental differences on gene expression
- Sex-Influenced and Sex-Limited Traits: The environment can also influence the expression of sex-influenced and sex-limited traits. For example, male-pattern baldness is a sex-influenced trait that can be expressed in women under high-stress situations, which can lead to increased production of certain hormones
- Drugs and Chemicals: The presence of drugs or chemicals in an organism’s environment can also influence gene expression. For instance, certain chemicals can affect development, as seen in the case of cyclops fish
- Environmental Traits: Where a person lives can shape and form who they become because their environment is the main determinant of their personalities and individual characteristics
Explain why polygenic traits usually show a continuum of phenotype variation
Polygenic traits are controlled by multiple genes, each of which contributes a small effect to the overall phenotype. Because of this, polygenic traits often show a continuum of phenotypic variation, rather than discrete categories
Each gene involved in a polygenic trait can have multiple alleles, and the combination of these alleles can result in a wide range of phenotypes. For example, human height is a polygenic trait, and the combination of alleles from many genes can result in a wide range of heights
In addition to the additive effects of multiple genes, environmental factors can also influence the expression of polygenic traits. This interaction between genes and the environment can further increase the range of phenotypic variation
Therefore, the continuum of phenotypic variation observed in polygenic traits is a result of the combined effects of multiple genes and environmental influences
Transmission genetics
The key principles of transmission genetics include:
1. Principle of Segregation: Each inherited trait is defined by a pair of genes. Offspring receive one genetic allele from each parent
- Principle of Independent Assortment: Genes for different traits are sorted separately so that the inheritance of one trait is not dependent on the inheritance of another
- Principle of Dominance: An organism with at least one dominant allele will display the effect of the dominant allele
Transmission genetics involves observation and explanation of phenotypic patterns both among the offspring of specified hybrid crosses and among naturally occurring families. It merges the analytical power of gene inheritance with molecular approaches, making it a valuable research tool
Blending Inheritance
An outdated theory suggesting offspring inherit traits as an average of their parents’ traits. It was discarded with the acceptance of particulate inheritance
This theory implied that the genetic material of offspring was a uniform blend of that of the parents. However, blending inheritance was discarded with the general acceptance of particulate inheritance during the development of modern genetics, after around 1900
One of the main criticisms of blending inheritance was that it would lead to a loss of variation in populations, as traits would blend over generations until a uniform phenotype was reached. This is contrary to what we observe in nature, where variation is maintained over generations. Today, we understand that inheritance is particulate, not blending, thanks to the work of Gregor Mendel
Trait
Part of an individual’s overall phenotype, which is the set of observable characteristics of an individual resulting from the interaction of its genotype with the environment
For any given trait, one gene variation (allele) is received from the father and one from the mother. The expression of these alleles determines the phenotype, whether dominant or recessive
Hybridization
In summary, hybridization is a fundamental process in genetics that involves the pairing of complementary DNA or RNA strands, the production of hybrids within a species, and the exchange of genes between species
In a broader biological context, hybridization can also refer to the process of producing a hybrid, which increases the genetic variety within a species. This is particularly important for evolution as it allows for adaptation to changing environmental conditions
True Breeding
True breeding, sometimes also called a purebred or pure line, refers to an organism that always passes down certain phenotypic traits (i.e., physically expressed traits) to its offspring of many generations. This means that the parents are homozygous for every trait. In other words, they have two identical alleles for each gene
For example, a plant that has blue flowers will produce only seeds that will grow into plants that have blue flowers. With true breeding, the trait is passed on to all subsequent generations. For this to occur, the parents must be both dominant or both recessive
However, true breeding implicates a limited gene pool. As such, there is a high tendency of a particular trait to be inherited (e.g., genetic disorders) that could potentially be detrimental to the health of the offspring
P1 generation and F1 generation
The P1 generation, also known as the parental generation, refers to the original set of organisms that are mated in a genetic experiment. These organisms are usually homozygous for one or more traits. This means they carry two identical alleles for each gene
The offspring of the P1 generation are known as the F1, or first filial, generation. The F1 generation can reproduce to create the F2 generation, and so forth
For example, when Gregor Mendel, the “Father of Genetics”, was studying pea genetics, he started by producing lines of pure-breeding peas. He crossed these two lines of plants, designated as the parental generation or P generation. The offspring from this cross, which were all green, were the first generation of offspring, or the F1 generation. Mendel then allowed the F1 plants to self-fertilize, producing the F2 generation
Reciprocal Crosses
reciprocal cross in genetics is a pair of crosses between a male of one strain and a female of another, and vice versa. It’s used to determine whether a trait is linked to the sex chromosomes or autosomal chromosomes, and whether it’s dominant or recessive. The parents must be true breeding, and the trait is observed over two generations. This helps in understanding the inheritance pattern of the trait.
Dominant vs Recessive
In genetics, dominant traits are expressed if at least one dominant allele is present. Recessive traits only show up when two recessive alleles are present. So, a person with one dominant and one recessive allele will display the dominant trait but can pass on the recessive trait to offspring.
Dominant Traits: These traits are expressed even if there is only one copy of an allele for a particular trait in the gene. For example, the allele for brown eyes is dominant, so a person will have brown eyes if they have at least one allele for brown eyes
Recessive Traits: These traits are expressed only when two copies of an allele are present in the gene. For instance, the allele for blue eyes is recessive, so a person will have blue eyes only if they have two alleles for blue eyes
In terms of inheritance, if a person receives a dominant allele from one parent and a recessive allele from the other, the dominant allele determines the characteristic. This person is considered heterozygous and is often referred to as a “carrier” of the recessive allele. If a person has two dominant alleles or two recessive alleles, they are considered homozygous