Unit 4 - Genetics Flashcards

1
Q

What is the law of segregation?

A

during the production of gametes the two copies of each hereditary factor segregate so that offspring acquire one factor from each parent

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2
Q

What is the law of independent assortment?

A

when two or more characteristics are inherited, individual hereditary factors assort independently during gamete production, giving different traits an equal opportunity of occurring together.

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3
Q

What is complete dominance?

A

when the dominant allele completely covers up the recessive allele.

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4
Q

What is incomplete dominance?

A

When one allele for a specific trait is not completely expressed over its paired allele. This results in a third phenotype in which the expressed physical trait is a combination of the phenotypes of both alleles.

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5
Q

What is codominance?

A

When two alleles of a gene pair in a heterozygote that are both fully expressed. When alleles for both white and red are present in a carnation, for example, the result is a red and white mixed carnation since both alleles are codominant.

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6
Q

What is Jacob Syndrome?

A

A rare chromosomal disorder in which males have an extra Y chromosome. Symptoms include tallness, severe acne, learning disabilities, and behavioral problems, like impulsivity. Most cases result from a cell division error in sperm prior to conception.

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7
Q

What is Klinefelter Syndrome?

A

This disorder results from 1 or more extra X chromosomes in males. Males affected by this disorder tend to have low levels of testosterone, resulting in delayed or incomplete puberty, breast enlargement, reduced facial hair, infertility, and/or genital differences.

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8
Q

What is Triple X Syndrome?

A

This disorder is characterized by the presence of an additional X chromosome in each of a female’s cells. Other than usually being taller than average, females with this disorder often do not have any symptoms. However, some are affected by learning disabilities, delayed development of speech and motor skills, weak muscle tone, and emotional or behavioral difficulties.

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9
Q

What is a sex-linked trait?

A

If a gene is found only on the X chromosome and not the Y chromosome, it is said to be a sex-linked trait. Because the gene controlling the trait is located on the sex chromosome, sex linkage is linked to the gender of the individual. Usually such genes are found on the X chromosome. The Y chromosome is thus missing such genes. The result is that females will have two copies of the sex-linked gene while males will only have one copy of this gene. If the gene is recessive, then males only need one such recessive gene to have a sex-linked trait rather than the customary two recessive genes for traits that are not sex-linked. This is why males exhibit some traits more frequently than females. Some common sex-linked traits are hemophilia and red-green color blindness. I

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10
Q

What is sexual reproduction?

A

A mode of reproduction involving the fusion of female gamete (ovum) and male gamete (spermatozoon), which forms a zygote that potentially develops into genetically distinct offspring.

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11
Q

What are somatic cells?

A

Somatic cells are all cells in the body except germ cells, which are egg and sperm.

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12
Q

What is synapsis?

A

In prophase I of meiosis, the replicated homologous pair of chromosomes comes together in the process called synapsis, and sections of the chromosomes are exchanged. You can see that after crossing over, the resultant chromosomes are neither entirely maternal nor entirely paternal, but contain genes from both parents. Synapsis and crossing over occur only in meiosis.

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13
Q

What is a trait?

A

A phenotypic trait, or simply trait, is a distinct variant of a phenotypic characteristic of an organism; it may be either inherited (inherited trait) or determined environmentally (acquirred trait), but typically occurs as a combination of the two. For example, eye color is a character of an organism, while blue, brown and hazel are traits.

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14
Q

What are the 3 sources of genetic variation and what is it?

A

Sources:

  1. Mutation is a change in DNA, the hereditary material of life. An organism’s DNA affects how it looks, how it behaves, and its physiology — all aspects of its life. So a change in an organism’s DNA can cause changes in all aspects of its life.
  2. Recombinationn of genes through sexual reproduction-Sex can introduce new gene combinations into a population and is an important source of genetic variation. Crossing over, independent assortment, and sex are the principle mechanisms that maintain genetic diversity within populations.
  3. Genetic flow is any movement of individuals, and/or the genetic material they carry, from one population to another. If gene versions are carried to a population where those gene versions previously did not exist, gene flow can be a very important source of genetic variation. “
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15
Q

What is turner syndrome?

A

Turner syndrome is when a chromosomal disorder in which a female is born with only one X chromosome. In Nondisjunction, the sex chromosomes fail to separate during the formation of a sperm (or egg). When sperm with no X chromosome unites with a normal egg to form an embryo, that embryo will have just one X chromosome (X rather than XX). As the embryo grows and the cells divide, the X chromosome will be missing from every cell of the baby’s body.Turner syndrome can cause a variety of medical and developmental problems, including short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social adjustment problems.

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16
Q

What does Autosomal Dominant mean?

A

A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. Examples of diseases inheroted this way include Huntington disease and neurofibromatosis.

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17
Q

What is Neurofibromatosis?

A

This disorder is autosomal dominant. It refers to 3 types of inherited conditions that are clinically and genetically distinct and carry a high risk of tumor formation, particularly in the brain. Possible symptoms include learning disabilities, enlargement and deformation of bones, and hearing loss.

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18
Q

What is Huntington’s Disease?

A

This disease is autosomal dominant and causes the progressive degeneration of nerve cells in the brain. It usually insets in the 30s or 40s and leads to cognitive and psychiatric disorders.

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19
Q

What does Autosomal Recessive mean?

A

A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. An example of this pattern of inheritance is cystic fibrosis.

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20
Q

What is Sickle Cell Anemia?

A

This disease is autosomal recessive in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your body, because blood cells are rigid and sticky and are shaped like sickles.

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21
Q

What is Cystic Fibrosis?

A

This disease is autosomal recessive and causes severe damage to the lungs and digestive system by affecting the cells that produce mucus, sweat and digestive juices.

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22
Q

What is nondisjunction?

A

Nondisjunction during meiosis produces eggs or sperm cells that don’t have the normal number of chromosomes. If nondisjunction occurs during anaphase I of meiosis I, this means that at least one pair of homologous chromosomes did not separate. The end result is two cells that have an extra copy of one chromosome and two cells that are missing that chromosome. If nondisjunction occurs during anaphase II of meiosis II, it means that at least one pair of sister chromatids did not separate. In this scenario, two cells will have the normal haploid number of chromosomes. Additionally, one cell will have an extra chromosome (n + 1) and one will be missing a chromosome (n - 1).

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23
Q

What is down Syndrome?

A

Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21. It is a congenital disorder causing intellectual impairment and physical abnormalities including short stature and a broad facial profile.

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24
Q

What is a zygote?

A

A zygote is a fertilized egg cell that results froma female gamete(egg, or ovum) with a male gamete (sperm). In the embryonic development of humans and other animals, the zygote stage is brief and is followed by cleavage, when the single cell becomes subdivided into smaller cells. The zygote contains all the essential factors for development, but they exist solely as an encoded set of instructions localized in the genes of chromosomes.

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25
Q

What is Tay-Sachs?

A

This disoder is autosomal recessive and progressively destroys neurons in the brain and spinal cord. It is usually apparent in infancy and is quickly fatal. Characteristic features include muscle weakness, loss of motor skills, hearing loss, seizures, and other problems with movement, speech, and mental illness.

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26
Q

What is PKU?

A

This disorder is autosomal recessive. It is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine, an amino acid, which eventually builds up, especially if one eats a lot of protein.

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27
Q

What is it called when there is improper separation of chromosomes during meiosis that leads to an abnormal number of chromosomes in offspring. (Ex: Down syndrome, Turner’s syndrome, Klinefelter’s syndrome.)

A

Nondisjunction

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28
Q

The first two individuals that mate in a genetic cross are considered to be in what generation?

A

P Generation

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29
Q

If a trait is derived from the father, it is called…

A

A paternal trait

30
Q

This kind of chart shows the relationships between family members and indicates which individuals express or are a carrier of a trait.

A

Pedigree

31
Q

The genotype determines what genes are expressed, also called the…

A

Phenotype

32
Q

This occurs when one gene influences two or more seemingly unrelated phenotypic traits. (Ex: PKU disease that affects multiple systems, but caused by one gene.)

A

Pleiotropy

33
Q

This occurs when one characteristic is controlled by two or more genes. (Ex: skin color, eye color, height.)

A

Polygenic Inheritance

34
Q

This kind of chart is used to determine the probability of offspring having a particular genotype.

A

Punnett Square

35
Q

This kind of allele will only be expressed if it is homozygous.

A

Recessive Allele

36
Q

X and Y chromosomes that’s determine a child’s sex are called…

A

Sex chromosomes

37
Q

What theory states that genes (on loci) and chromosomes undergo segregation and independent assortment in meiosis?

A

The chromosome theory of inheritance

38
Q

How does the term homozygous relate to the genotype of organisms, as well as their relative phenotype?

A

Organisms who are homozygous for a trait will display that trait unimpeded, because the homozygous dominant traits or homozygous recessive traits will take precedence.

39
Q

What is the relationship, if any, of the parents of a hybrid organism?

A

The parents of a hybrid organism are of different species or different subspecies.

40
Q

If horse breeds that are incompletely dominant to each other are crossed, what is the expected result of a cross between a horse homozygous for black hair, and a horse homozygous for white hair?

A

The expected result would be a 1:1 phenotypic ratio of incompletely dominant grey-haired horses, because neither the black nor white-haired trait was dominant to the other.

41
Q

What are karyotypes and how are they useful?

A

Karyotypes are visualizations or photographs of a complete set of chromosomes in an organism, and can be extremely useful for predetermining genetic defects or abnormalities.

42
Q

What is epistatis, and how does it relate to loci?

A

Epistasis is an inheritance pattern in which one gene masks the expression of another gene at a different locus and is independently inherited.

43
Q

What does Mendel’s Law of Independent Assortment theorize?

A

Genes of different traits are inherited and assorted independently, and therefore do not depend on the inheritance of another trait.

44
Q

What does Mendel’s Law of Segregation theorize?

A

Inherited traits are defined by gene pairs, and offspring inherit one genetic allele from each parent.

45
Q

Why are unaffected maternal carriers of sex-linked diseases more common than unaffected male carriers of sex-linked disorders?

A

Sex-linked disorders often occur on the X-chromosome of both females and males, but since males only have a single X-chromosome, it is highly unlikely for a male to be a carrier on the X-chromosome and stay unaffected.

46
Q

What is the addition rule?

A

The Addition Rule is used to determine the outcome of an event with two mutually exclusive events from multiple pathways; the probability of the event is the sum of the probabilities of each individual event.

47
Q

What is an allele and where is it found?

A

An alternative form of a gene that usually arises through mutation, that may produce different phenotypic effects. They are found on chromosomes.

48
Q

What is an autosome? Give an example of an autosomal disorder.

A

A chromosome that is not directly involved in determining an individual’s sex. Ex of autosomal disorder: Cystic Fibrosis, Huntington Disease, Neurofibromatosis.

49
Q

What is a bivalent and during which phase of meiosis are they formed?

A

A pair of homologous chromosomes; during prophase 1.

50
Q

What is the chiasma? What is its role in metaphase 1 of meiosis?

A

The x-shaped region where crossing over occurs between homologous, nonsister chromatids; it holds together bivalents in metaphase 1.

51
Q

What are chromatids? What happens to them in the process of cell divison?

A

One-half of two identical threadlike strands of a replicated chromosome. During cell division, the identical copies (sister chromatid pair) are joined at the region called the centromere.

52
Q

What is codominance? Give an example relating to a cross between red and white flowers.

A

Occurs when two alleles of a gene pair in a heterozygote are both fully expressed; ex: cross between red and white flowers produces flowers that are not pink, but red AND white.

53
Q

What happens during crossing over and why is it essential to genetic variation? When does this process occur?

A

Crossing over is the exchange of genetic material between homologous chromosomes during prophase I of meiosis. It results in genetic variation because the resulting recombinant chromosomes have chromatids that are no longer identical. When the chromosomes go on to meiosis II and separate, some of the daughter cells receive chromosomes with recombined alleles. The offspring have a set of alleles and genes different from their parents’.

54
Q

What makes a dominant allele different from a recessive allele? Explain the 3 possible allelic combinations.

A

A dominant allele will produce the same phenotype regardless of the type of its paired allele, while recessive alleles depend on the type of its paired allele. The 3 allelic combinations are AA, Aa, and aa. AA individuals (dominant homozygotes) and Aa individuals (heterozygotes) show the same phenotype because there is at least 1 dominant allele. aa individuals (recessive homozygotes) show different forms of the trait (phenotype).

55
Q

What is a dihybrid cross? In squash, white fruit color (W) is dominant over yellow fruit color (w) and disk-shaped fruit (D) is dominant over sphere-shaped fruit (d). For WWDD x wwdd, what would be the phenotypic ratios be for the F1 and F2 generations?

A

A dihybrid cross is a cross between two individuals that are both heterozygous for two different traits. All of the plants in the F1 generation would be heterozygous for both traits (WwDd). The F2 generation would have a 9:3:3:1 phenotypic ratio. 9/16 would have white, disk-shaped fruit. 3/16 would have white, sphere-shaped fruit. 3/16 would have yellow, disk-shaped fruit. 1/16 would have yellow, sphere-shaped fruit.

56
Q

What is the name of a cell that has 2n chromosomes? N chromosomes?

A

Diploid cells have two homologous copies of each chromosome, usually one from the mother and one from the father. In humans, 2n = 46 chromosomes. Haploid cells have one set of unpaired chromosomes. Human haploid gametes have n = 23 chromosomes.

57
Q

How does epistasis complicate the effects of genes and the mutations of genes? What is one example?

A

Epistasis is a phenomenon in which one gene is dependent on the presence of one or more ‘modifier genes.’ Epistatic mutations also have different effects depending on the combinations of genes. For example, the gene for total baldness is epistatic to the genes for blond hair or red hair.

58
Q

What is the name of the generation after the P generation?

A

The F1 generation is the generation resulting from a cross of the first set of parents (parental generation).

59
Q

What is the name of the generation after the F1 generation?

A

The F2 generation is the result of a cross between 2 individuals from the F1 generation.

60
Q

What is another way to say fusion of gametes? Explain how it results in new organisms.

A

Fertilization is the fusion of gametes to initiate the development of a new individual organism. In animals, a female ovum and a male sperm are fused. This creates a zygote and then leads to the development of an embryo. At the end of this sexual reproduction process, a new individual organism is created.

61
Q

How would you determine the mode of transmission — monohybrid or dihybrid, sex-linked or autosomal?

A

Determine the genotype of the P generation by analyzing the phenotypes of the F1 and F2 generations. In the F1 generation, separate males from females to see if there are variations related to sex. If there is only 1 trait involved and there is a 3:1 ratio, then it is monohybrid. If there are 2 traits involved and there is a 9:3:3:1 ratio, then it is a dihybrid. If the pattern is similar for males and females, then the inheritance is probably autosomal (the gene is not on a sex chromosome).

62
Q

Explain the 5 requirements for Hardy-Weinberg equilibrium. What is the purpose of H-W equilibrium?

A

A large breeding population helps to ensure that chance (genetic drift) alone does not disrupt genetic equilibrium. Random mating helps ensure that specific traits/genes are not over- or underrepresented out of equilibrium. There can be no mutations because they would change allelic frequency in the gene pool. No migration helps ensure that alleles do not leave or enter the gene pool. No natural selection helps ensure that no alleles are selected over other alleles.

63
Q

What is the difference in the outcome of Meiosis and Mitosis?

A

After mitosis, 2 daughter cells are produced. After meiosis, 4 daughter cells are produced.

64
Q

During which phase of meiosis do the bivalents align themselves at the metaphasal plate?

A

Metaphase 1

65
Q

Does DNA replication occur between meiosis I and Meiosis II?

A

No

66
Q

How many x chromosomes does a female have? A male?

A

females have 2, men have 1

67
Q

When two parents are heterozygous, what do the laws of probability indicate regarding the f2 generation’s phenotypic ratio?

A

9 dominant both traits:3 dominant 1 trait:3 dominant other trait:1 recessive both traits.

68
Q

What is the difference between alleles and phenotypes?

A

Alleles are alternate versions of a gene, while phenotypes are the physical result of genes.

69
Q

Explain nondisjunction and when it occurs.

A

Nondisjunction is the failure of homologous chromosomes to move apart properly during meiosis I or sister chromatids to separate properly during Meiosis II. One gamete receives two of the same chromosomes and another gamete receives no copy. It takes place during anaphase 1 or 2.

70
Q

Explain and give examples of exogenous and endogenous factors (causes of mutations).

A

Exogenous factors are environmental factors such as sunlight, radiation, and smoking. Endogenous factors are errors during DNA replication. Mutations lead to genetic variation and can be beneficial, neutral, or malicious. Insertion/deletion: genetic material is inserted/removed. Frameshift: The insertion or deletion of a # of bases that is not a multiple of 3. This alters the reading frame of the gene. Missense: A change in DNA sequence that changes the codon to a different amino acid. Nonsense: A change in the genetic code that results in the coding for a stop codon rather than an amino acid.