Genetics Flashcards

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1
Q

What were the 4 reasons that Gregor Mendel chose pea plants as his organism of choice for his experiments?

A
  1. There are many varieties with distinct characters or traits.
  2. Mating of the plants can be controlled.
  3. Each pea plant has sperm and egg producing organs.
  4. Cross-pollination can be achieved by dusting one plants pollen to another.
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2
Q

What is a character? How is this different from a trait?

A

A heritable feature that varies among individuals. Such as flower color.

A trait is each varient of a character, such as purple or white flower color.

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3
Q

What were two critical components of Mendels experimental paradigm?

A

Only true-breeding varieties of pea plants were cross pollinated.

Only characters that varied in an “either-or” manner were were tracked (EITHER purple OR white).

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4
Q

What is meant by something that is true-breeding?

A

Plants prduce offspring of same variant (trait) when they self-pollinate.

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5
Q

In Mendels experiment, for pea plant color, what were the two parents in the P generation considered to be? What did they create in the F1 generation after being cross-pollinated?

What was done with the F1 generation after it was produced and what was the outcome?

A

Both parents were true-breeds of either trait, example is one being true-bred white and other being true-bred purple in color. The offspring created were an F1 generation of hybrid plants that were all purple in color in this case.

The F1 generation was self-pollinated, creating the F2 generation. The outcome was a 3:1 ratio of purple to white plants. This ratio was found in other “either-or” traits examined by creating F2 generation using same process.

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6
Q

What was concluded after the P generation (true-purple and true-white) was cross-pollinated to form the F1 generation that was all purple?

A

Purple was the only thing affecting flower color for that generation, therefore dominant trait and white was recessive.

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7
Q

What Mendel called a heritable factor we now call what?

A

gene

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8
Q

What were the four concepts that are described that make make up MEdels model?

A
  1. Alternative versions for genes account for variations in inherited characters.
  2. For each character, an organism inherits two copies (two alleles) of a gene, one from each parent.
  3. If the two alleles at a locus differ then the dominant allele determines the appearance and the other recessive allele has no affect on the organisms appearnace.
  4. The law of segregation: two allels for a heritable character segregate (separate) during gamete formation and end up in different gametes.
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9
Q

Describe the first concept of Medels model (alternative versions of genes account for variations in inherited characters) in relation to plant color. What are these alternative versions called? What is the specific location at which a gene resides called?

A

Example: The gene for flower color in a pea plant exists in two versions (purple or white)

These alternative versions are called alleles.

Locus

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10
Q

Describe the second concept related to Mendels model (for each character an organism inherits two alleles, one from each parent).

A

The two alleles at a locus on each chromosome may be identical. Like in the true-breeding plants of the P generation in mendels experiment.

These alleles also may differ, like in the F1 hybrid of the medel experiment.

THIS DEDUCTION WAS MADE BEFORE KNOWING ABOUT CHROMOSOMES

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11
Q

Describe the way the allele for purple color vs white color works at a molecular level.

A

Purple allele - codes for enzyme to be synthesized that produces the purple pigment. .

White allele - a change in one base pair changes the amino acid sequence of protein so enzyme that makes purple pigment is not produced, making white color.

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12
Q

If a breed is a hybrid, is it always the case that if only one dominant allele is present that it will show the trait as the true-bred dominant (2 dominant allele)? For example: the fact that a true-bred dominant pea plant (purple) can’t be distinguished from the hybrid purple.

A

NO, sometimes only having one allele expressing the dominant trait will result in a different physical appearnace.

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13
Q

Describe the third concept for mendels model (if two alleles at a locus differ, then one (dominant) allele determines appearnace and the other (recessive) has no effect) with an example.

A

In the F1 generation of pea plants, all of the plants were purple in color because purple is the dominant trait.

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14
Q

Describe the 4th concept of Mendels model, known as the LAW OF SEGREGATION. How is it decided where each allele will go during gamete formation?

A

Two alleles for an inheritable characteristic are separated during gamete formation and end up in different gametes.

Meaning a sperm or egg gets only one of the two alleles present in the somatic cells of the organism that created them.

The separation of alleles is determined based on the distribution of homologous chromoses in meiosis. Specifically during meiosis I.

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15
Q

How can we determine the possible combinations of a sperm and an egg? What must we know first?

A

Punnett square

we must know their genetic makeup first.

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16
Q

What In a punnett sqyare, what represents a dominant allele and what represents a recessive allele?

A

Dominant - capital letter

Recessive - lower-case letter

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17
Q

What would you consider an organism to be if it had two identical alleles for a character? Example?

A

Homozygous

PP or pp

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18
Q

What would you consider an organism that has two different alleles for a character? Example?

A

Heterozygous

Pp

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19
Q

Which are true-breeding, homozygous or heterozygous?

A

Homozygous

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20
Q

Can you always tell the genetic composition just based off of its appearance? Why or why not? Example?

A

NO, because of the different effects of dominant and recessive alleles.

Purple: can either be PP or Pp. two separate compositions.

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21
Q

Given that appearance doesn’t equate to genetic composition in all cases, how are these two things distinguihed in genetics?

A

Phenotype: appearnace of organism (purple pea plant).

Genotype: genetic composition (PP or Pp for pruple pea plant)

A plant with one phenotype may have different genotypes, while the same genotype will result in the same phenotype.

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22
Q

How would you determine the genotype of an individual with the dominant phenotype?

A

Perform a testcross

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23
Q

What is a testcross? Why do we do this? How do you interpret the results?

A

This is when a individual with the domminant phenotype is bred with an individual that is homozygous recessive.

this is done to figure out the genotype of that individual, whether or not it is homozygous dominant or heterozygous dominant.

If any offspring display the recessive phenotype then the individual is heterozygous dominant.

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24
Q

How was the law of segregation derived?

A

Following a single character.

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25
Q

What is a monohybrid? What is an example of this?

A

Individuals that are heterozygous for one character.

The F1 offspring in mendels pea plant color experiment.

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26
Q

What is a monohybrid cross?

A

A cross between two monohybrids.

27
Q

What was the second law that Mendel identified? How did he identify this?

A

Law of independent assortment

He followed two chracters at a time instead of one, breeding two true-breeding parents of two differing characters to produce dihybrids in the F1 generation that are heterozygous for both characters and then performed a dihybrid corss.

28
Q

What is a dihybrid? Dihybrid cross?

A

An individual that is heterozygous in two followed characteristics.

A cross between dihybrids.

29
Q

How does a dihybrid cross ACTUALLY work and what ratio results? Describe the difference between the hypothesis of dependent-assortment and the independent assortment hypothesis that were created before the expermient was carried out by mendel.

A

SEE PICTURE: 9:3:3:1

Dependent assortment hypothesis: Dominant allele and recessive allele for each character follows each other as a package. creating same 3:1 as monohybrid

Independent assorment: Each allele for each character are independent of one another

INDEPENDENT ASSORTMENT HYPOTHESIS PREVAILED

30
Q

What does the law of independent assortment state? What has to be the case for this law to apply and how does it relate to Mendels experiment with dihybrids?

A

Each pair of alleles separates independently of other allele pairs during gamete formation (anaphase I)

This only occurs to genes that are located on different chromosomes, NOT HOMOLOGS

So for mendels seed color and shape experiment it would seem that each gene was on a separate chromosome, meaning he may not have gotten same results if he chose characters located on same chromosome.

31
Q

What do the laws of segregation and independent assortment reflect?

A

rules of probability.

32
Q

What does the probability scale range from?

A

0-1

33
Q

An event that is certain to not occur has a probability of?

A

0

34
Q

Why is it important to know the laws of probability for the exam?

A

so you arent working on a punnett square for hours

35
Q

What must total probability always add up to?

A

1

So for coin: 0.5 heads (50%) + 0.5 tails (50%) = 1 (100%)

36
Q

When looking at probability, does the probability of an outcome change based on the previous outcome? How does this relate to genetics?

A

NO, Alleles of one gene separate into gametes independently of another genes alleles.

37
Q

How would probability change when looking at the possibility of multiple independent events occuring together? How do you calculate this?

A

This would change the probability based their individual probabilities using the multiplication rule.

38
Q

Describe the multiplication rule. Use the probability of a coin toss landing tails twice.

A

probability of landing tails: 0.5 (1/2)

Probability of landing tails twice: 0.5 (1/2) x 0.5 (1/2) = 0.25 (1/4)

So for a heterozygous plant, EACH GAMETE has a 0.5 chance of carrying dominant allele and a 0.5 chance at carrying recessice allele.

39
Q

How does the addition rule differ from the multiplication rule? Define mutually exclusive.

A

Addition rule looks at mutually exclusive events and states they occur by ADDING together their individual probabilities.

mutually exclusive meaning that two events that happen independently of each other and result in same combination.

Look at this picture and see the two ways a heterozygote can be formed, received one of each allele from each parent in two combination. Each combination is a mutually exclusive event. So by adding the probability of each you have the total probability of getting a heterozygote from this picture. 1/4 + 1/4 = 1/2 (0.5)

40
Q

What can the rule of multiplication be used for?

A

Predicting the outcome of crosses with multiple characters.

41
Q

How do you work out a dihybrid or other multicharacter cross? How do you find out the probablility of each genotype?

A

Run each character as a independent monohybrid cross that occurs simultaneously.

To find the chance for genotypes run each character as a separate monohybrid cross then multiple each of their probabilities together.

42
Q

What are three situations in which the simple mendelian patterns of inheritance for a single gene may deviate?

A
  1. Alleles arent completely dominant or recessive
  2. A gene has more than two alleles
  3. A gene produces multiple phenotypes
43
Q

What are the three types of dominance that are a part of the spectrum of dominance?

A

Complete dominance - phenotype of heterozygote and dominant homozygote are identical.

Codominance - two dominant alleles that affect the phenotype in separate distinguishable ways.

Incomplete dominance - the phenotype of F1 hybrids is somehwere between the phenotypes of the two parental varieties. Like for snadragon color: CrCr (red) and CwCw (white) are both homozygous and are incompletely dominant, when these produce the F1 generation they are CrCw (pink) whihch is between the two parental varieties.

44
Q

Does a dominant allele actually subdue the recessive allele? Why is it considered dominant?

A

NO, it it considered dominant due to the fact it is shown in the phenotype.

45
Q

What makes the difference in alleles of a gene?

A

It’s nucleotide sequence

46
Q

Can the dominant/recessive relationship of alleles change depending on the level at which the phenotype is examined? What was the example in the book?

A

YES

Tay-Sachs disease - recessive at the organismal level (need to be homozygous recessive to show disease phenotype) and lipid-metabolizing enzyme is not functional, but at the biochemical level in a heterozygote the lipid-metabolizing enzyme is not as functional as in a homozygous dominant (but sufficient enough to prevent disease phenotype) showing incomplete dominance.

The book goes on to show how in Tay-Sachs disease the spectrum of dominance change again at the molecular level as well, showing codominance.

47
Q

Are dominant alleles more common than recessive alleles? What example does the powerpoint give?

A

Not necessarily.

1 out of 400 babies are born with extra fingers or toes. This is a dominant trait compared to the more common trait of five digit appendages.

This is a case where the recessive allele is much more prevalent than the dominant allele.

48
Q

Do genes exist that have more than two alleles? What example does the book give?

A

YES.

ABO blood typing: SEE PICTURE

49
Q

What is meant when genes express pleiotropy? What example is given in the book?

A

This is where a gene has multiple phenotypic effects.

An example given is how in humans pleiotropic alleles are responsible for the multiple symptoms associated with hereditary diseases like Cystic fibrosis and Sickle cell disease.

In the garden pea, the gene that determines flower color also affects the color of the seed coating.

50
Q

What is epistasis? What example is given in the book?

A

A gene at one locus alters the phenotypic expression of a gene at a second locus.

In mice and other mammals their coat color depends on two genes.

For mice: B (black) and b (brown) are for pigment color and C (pigment) and c (no pigment) control presence of pigment. The gene for pigment is epistatic to the gene for black and brown pigment.

51
Q

What are quantitative characters described as? What are the opposite of these?

A

These are characters that vary in the population along a continuum.

These differ from the EITHER OR characters like a purple or white pea plant.

Example: height or skin color, THESE ARE NOT EITHER OR CHARACTERS

52
Q

What is meant by the fact that quantitative variation is indicative of polygenic inheritance? What is polygenic inheritance?

A

Polygenic inheritance - an additive effective of two or more genes on one phenotype (basically the opposite of pleiotropy)

A more simple story in the book covers skin color: 3 genes each have a dark-skin allele (A, B, and C) and is incompletely dominant to the other alleles (a, b, and c).

So these 3 genes all effect this one phenotype and are incompletely dominant, meaning unique mixtures of these genes alleles will make a unique skin color (quantitative variation)

SEE PICTURE

53
Q

Give an example as to how not only genotype, but environmental influences can have an effect on phenotypic possibilities.

What is this phenotypic range defined as?

A

Hydrangea flowers of same genotype range from blue-violet to pink depending on the acidity of the soil.

A tree that has a locked genotype may have a variance in leaf size, shape, and greeness based on the eposure it has to wind and sun.

Human nutrition influences height, exercise alters build, and tanning can darken skin. These are all present regardless of genotype.

In human twins who are genetically identical they may accumulate different phenotypes based on tehir own individual experiences.

THIS IS CALLED THE NORM OF REACTION

54
Q

Where would you find the brodest norm of reaction typically?

A

In polygenic characters (multiple genes effect one phenotype)

55
Q

What is a pedigree analysis?

A

This is when scientists collect information about the family history for a particular trait and make a family tree describing the traits of parents and children across the generations, known as the family pedigree. SEE PICTURE (dominant widows peak allele).

56
Q

Make sure you know the key for a family pedigree. See the picture in next slide.

A
57
Q

What is the purpose of pedigrees? How so?

A

It can be used to make predictions about future offspring.

Using the multiplication and addition rules to predict specific phenotypes.

58
Q

When would a genetic disorder that is recessive show the phenotype in an individual?

Who would be considered a character of the disorder, but doesn’t show the phenotype?

A

When it is homozygous for that allele.

Heterozygous individuals are considered to be carriers but are phenotypically normal.

59
Q

What is the most common lethal genetic disease in the US? What does it cause? 1 in every how many people of European descent get this disorder? S/S?

A

Cystic Fibrosis

Results in defective or absent chloride transport channels in plasma membranes

1 in every 2500 people of european descent get this.

mucus buildup in internal organs, abnormal absorption of nutrients in small intestine.

60
Q

How many AA does sickle cell anemia affect? What causes this? What are some S/S? Is this a recessive disorder? What does the book say in depth?

A

1 in 400 AA

Substitution of a single amino acid in the hemoglobin of RBCs

weakness, pain, organ damage, paralysis

Considered to be recessive due to the fact two sickle-cell alleles need to be present to cause full-blown disease

The normal allele and sickle cell allele are codominant at the molecular level, this means that homozygous individuals will make the defective hemoglobin only, and the heterozygotes will will make some defective and some normal hemoglobin. Usually heterozygotes wont show phenotypic affects unless in low-oxygen conditions for a long period, while homozygotes for the allele mostly show phenotypic affects, this is incomplete dominance at the organismal level.

61
Q

Can some dominant allele disorders be fatal if homozygous? An example? Is it common for dominant alleles to cause lethal diseases in comparison to recessive alleles that do so?

A

YES

achondroplasia - a form of dwarfism is lethal when homozygous dominant

It is much less common for dominant alleles to cause lethal disease in comparison to recessive alleles.

62
Q

What is the only way that a dominant allele that is fatal can escape being eliminated from gene pool? Why?

What is an example of this?

What are the chances a child would receive this allele?

A

Only if it causes death at a relatively advanced age

Because they will live long enough to reproduce and pass on the allele.

Huntingtons disease - doesn’t show its phenotypic effect until 35-45 years of age.

Since it is dominant - child of parent with disease has 50% chance of receiving allele.

63
Q

There are dominant and recessive genetic disorders, but are there disorders that are not only affected by genetics but also by environment? Do we understand these multifactorial diseases?

A

YES, such as heart disease, both genetic and environmental factors.

NOPE.