9.1-9.10: Mendel's Laws Flashcards

(70 cards)

1
Q

Give a brief history on the study of genetics:

A
  1. Hippocrates: suggests that pagenes from parent organisms create a child, however pagenes are subject to change as the human body develops.
  2. The blending theory: 19th century biologists suggested that human traits were a blend of their parents
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2
Q

End of 9.1 Question: Imagine you have two different houseplants of the same species, one of which blooms with white flowers and the other with red flowers. Design a simple experiment to test the blending hypothesis

A

Cross the two plants and observe the resulting flower color in the offspring. The blending hypothesis predicts the appearance of pink flowers.

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3
Q

Define heredity

A

the transmission of traits from one generation to the next

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4
Q

Define genetics

A

The study of heredity

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5
Q

What was the outcome of Mendel’s pea experiment? What did he conclude?

A

That genes were discrete: no blending, just shuffling.

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6
Q

Define character, in the field of genetics?

A

A heritable feature that varies among individuals (ex. eye color)

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7
Q

Define trait, in field of genetics

A

each variant for a character (ex. blue eyes, brown eyes)

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8
Q

Why were peas such a good selection for Mendel’s experiment?

A

Because they self-pollinated, and if Mendel put bags on top of them, there was not cross pollination that happened. However, he could also use the isolatedness of the reproductive anatomy to his advantage; he could cut it off and dust it with pollen, then plant the developed seeds. The genes for all his traits were on separate chromosomes. The traits were binary choices.

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9
Q

Define true-breeding varieties, in the field of genetics

A

varieties for which self-fertilization produced offspring all identical to the parent.

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10
Q

Define hybrids, in the field of genetics

A

The cross of two different (true-breeding) varieties of plants

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11
Q

what is a short term for cross-breeding?

A

cross

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12
Q

What are the generations of the the true-breeding cross called?

A

P(arental) generation
F1(ilial) generation.
When F1 plants self-fertilize, they are called F2. (remember, these are plants that Mendel experimented on)

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13
Q

End of 9.2 Question: Describe three generations of your own family using the terminology of the genetic cross.

A

The P generation are your grandparents, the F1 your parents, the F2 is you (and siblings)

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14
Q

Define monohybrid cross.

A

A cross between plants observing only one character (Mendel crossed a true-bred white flower and purple flower).

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15
Q

When Mendel crossed the true bred white flower and purple flower, what were the F1 generations results? The F2? What did he deduce from these results?

A

F1, all flowers were purple.
F2, 3/4 flowers were purple 1/4 was white.
The heritable factor for the white flowers did not disappear in the F1 generation, but was masked by the purple flower. The F1 plants must carry two factors for flower-color character, one for purple and one for white.

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16
Q

What are alleles?

A

Alternative version of a gene (a SINGLE gene in a SINGLE chromosome. There may be mistakes with wording later in the cards)

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17
Q

Mendel’s first hypothesis is: There are alternative versions of genes that account for variations in inherited characteristics. Put this in the context of his experiment.

A

The F1 plants must carry two factors for flower-color character, one for purple and one for white, despite all being purple, because the F2 generation had white flowers.

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18
Q

Mendel’s second hypothesis is: For each character, an organism inherits two alleles, one from each parent. Put this in the context of his experiment.

A

Allele for white flowers, allele for purple flowers.

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19
Q

Define homozygous

A

An organism that has two identical alleles for a gene. The trait itself is a homozygote.

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20
Q

Define heterozygote:

A

An organism that has two different alleles for a gene, called a heterozygote.

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21
Q

Mendel’s third hypothesis is: If the two alleles of an inherited pair differ, then one determines the organism’s appearance and is called the dominant allele; the other has no noticible effect on the organism’s appearance and is called the recessive allele. Put this in the context of his experiment.

A

Heterozygous plants always appeared purple, making purple the dominant allele.

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22
Q

Mendel’s fourth hypothesis is: A sperm or an egg carries only one allele for each inherited character because allele pairs separate (segregate) from each other during the production of gametes (Law of Segregation). Put this in the context of his experiment.

A

Genes determining flower color come together when an egg is fertilized. They can be PP, Pp/pP, or pp, determining color.

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23
Q

How are recessive and dominant traits represented by scientists?

A

lowercase and uppercase letters, respectively.

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24
Q

Why did the F2 generation have 25% of its offspring with white flowers.

A

Because of the law of segregation and recessive and dominant traits. The P generation had gametes of P&P and p&p. They all combined to form alleles of Pp. When the F1 generation (Pp) self-fertilized, there were four gametes: P&p and P&p. Then, instead of one outcome there were three: PP, Pp and pp. (Pp also pP). The each account for 1/4. But, P is the dominant trait, meaning 3/4: PP, Pp, and pP, would all be purple, and only 1/4 would be white.

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25
A diagram that shows possible combinations of alleles is called a:
Punnett square.
26
Define phenotype
An organism's physical, independent traits, despite genotype.
27
Define genotype
The makeup of alleles found in the Punnett square; often can differ from physical appearance.
28
The Law of Segregation applies to:
all sexually reproducing organisms.
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End of 9.3 Question: How can two plants with different genotypes for a particular inherited character be identical in a phenotype?
One could be homozygous dominant and the other could be heterozygous dominant.
30
Do all alleles created by the combination of an egg and sperm on a specific chromosomes have to have the same dominant/recessive makeup?
No! At the loci of genes on a chromosome, there can be pp, Aa, BB, etc... All based on what is inherited from parents.
31
End of 9.4 Question: An individual is heterozygous, Bb, for a gene. According to the law of segregation, each gamete formed by this individual will have either the B allele or the b allele. Which step in the process of meiosis is the physical basis on the segregation of alleles?
The B and b alleles are located at the same gene locus on homologous chromosomes, which separate during meiosis I and are packaged in separate gametes during meiosis 2.
32
The "blending theory" of genetic was popular during Mendel's lifetime (1822-1880s). What was Mendel's theory called?
Particulate genetics
33
What is the male reproductive system in a plant called? Female?
Stamens. Carpal. Found in the same plant.
34
What is a monohybrid cross?
a cross between to independent, homozygous, alleles.
35
What is a dihybrid cross? How did Mendel test it in his experiment?
A dihybrid cross is a cross between two traits; that is, two alleles. To tesr this, Mendel mixed identical plants, with one who had yellow and round seeds (genotype RRYY) with one that had green and wrinkled seed (genotype rryy).
36
What occurred in the F1 generation of Mendel's dihybrid cross?
All seeds were yellow and round because R and Y were dominant alleles. The gametes produced by the yellow seed could only be RY, and when they combined with green seed, who could only have ry, the offspring would also be RrYy.
37
What is dependent assortment? In his dihybrid cross, why was Mendel's hypothesis that this may occur refuted?
Dependent assortment is the alleles for seed color and shape inherited together as they came from the parent generation. This means that gametes that would create the F2 plants would either by RY or ry egg and sperm. However, the law of independent assortment proved correct, once again, as the gametes were actually: RY, rY, Ry and ry.
38
The law of independent assortment was true for dihybrid crosses In Mendel's experiment. What did the ratio of outcomes look like for the experiment with the RY, rY, Ry, and ry gametes.
There was a 9:3:3:1 ratio for round and yellow, wrinkled and yellow, round and green, and green and wrinkled seeds, respectively.
39
From his dihybrid cross, what did Mendel conclude about the law of independent assortment?
Each pair of alleles segregates independently of other alleles during gamete formation. The inheritance of one character has no effect on the inheritance of the another.
40
The genotype: B_ determines that a lab is Black, instead of brown (bb). The genotype N_ determines whether they have vision, while nn says they have a retinal disorder. Predict the phenotype of offspring obtained by mating a black lab homozygous for both coat color and normal eyes with a chocolate lab that is blind from PRA.
This is a parent generation. All offspring would be black with normal eyes (BBNN*BBNN=BbNn)
41
What is the goal of testcross? How are the results interpreted.
A testcross aims to figure out the second gene in a dominant allele. It is done through the mating of organisms. For example, a black lab has thee coat gene B_, a chocolate lab bb. If their children are both Black, then the allele was BB, but if there is a mix of Black and chocolate, it would be Bb.
42
End of 9.6 Question: You testcross to determine the genotype of a Lab with normal eyes. Half the offspring are normal and half develope PRA. What is the genotype of the normal parent?
Nn (heterzygous)
43
What is a basic overview of statistics, as given by the book.
Probability scale ranges from 0-1. Probabilities for separate events must always add up to each other. Two coin tosses are independent events, they have no effect on each other, however if you are trying to flip coins in a row, the probability does go down.
44
What is the rule of multiplication, in statistics?
The probability of a dual event is the product of separate probabilities that determine it.
45
What is the rule of addition, in statistics?
The probability that an even can occur in two or more possible ways can be determined from the sum of separate probabilities of the alternatives.
46
Using the rules of probability, for two genotypes of AaBbCc that cross, what is the probability that an offspring will be a recessive homozygote for all three genes?
First, due to the law of independent assortment, we can change the genotype into (note that gametes would just be A or a): Aa*Aa = 1/4 chance of getting aa Bb*Bb = 1/4 chance of getting bb Cc*Cc = 1/4 chance of getting cc. Now, we apply the rule of multiplication (1/4*1/4*1/4), and see that the chances of this outcome are 1/64. This process of simplifying to a monohybrid cross then multiplying is much easier than doing a Punnett Square.
47
End of 9.7 Question: A plant of genotype AABbCC is crossed with a AaBbCc plant. What tis the probability that an offspring will have the genotype AABBCC?
1/16 (1/2*1/2*1/4)
48
Define pedigree, in the sense of genetics.
Information about the family's certain history for a trait.
49
Is it possible for a child to inherit a trait that neither of their parents had?
Yes; and it depends of how you define "had." While people may not physically appear to have a trait (their phenotype), they still may carry a dominant heterozygous allele which allows them to carry the opposite gene. If their other parent also has this, they have a 1/4 chance of receiving the recessive trait.
50
End of 9.8 Question: If Lori (genotype H_), who has a widow's peak, had a child, which phenotype would allow her to deduce her own genotype for certain?
If her child had a straight hairline (hh), then Lori would know that she herself must have an Hh.
51
Define wild-type traits
those seen most often in nature
52
What is the difference between freckles, and widow's peak, albinism and hair color and eye color?
The mechanisms for hair and eye color are much more complicated than a dominant and recessive gene,
53
What is a common misconception about dominant and recessive traits?
That dominant traits are normal and more common while recessive traits are less common: recessive traits are actually more common in c retain populations. In fact, while freckles are a dominant trait, the majority of the population does not have them.
54
Who are people with most recessive disorders born to?
Parents with the recessive alleles, but they common in dominant heterozygous form so the parents are phenotypically normal (called "carriers")
55
What is cystic fibrosis? How many people have it? How many people carry the gene for it?
The excessive secretion of mucus from the lungs and other organs. 30,000 Americans have it, but 1 in 31 Americans carry its gene.
56
Why are genetic disorders often more prevalent in certain ethnic groups?
Isolation can lead to mating between close blood relatives, which leads to a high likelihood of carrying the same recessive alleles as to unrelated people.
57
Most harmful alleles are _________ but some can be _________.
recessive, dominant.
58
What is achondroplasia? How does it occur? How much of the population has this gene?
AKA Dwarfism. It occurs in humans less than 0.001% of times. The genotype must be Aa for it occur, because, despite being a dominant trait, AA babies are aborted.
59
Why are dominant lethal disorders much less common than recessive lethal disorders?
1) Dominant lethal allele cannot be carried by heterozygotes without affecting them. 2) Many lethal dominant alleles result from mutations in sperm and eggs that subsequently kill the embryo. 3) If the diseased individual does not survive long enough to reproduce, the lethal allele will not be passed on to future generations. Compare this to the "carriers" of recessive diseases.
60
In what cases do lethal dominant alleles escape from elimination?
If it does not cause death until a relatively advanced age, such as in Hungtington's disease. If they had children during their lifetime, the child had a 50% chance, on average, of also getting the disease. Huntington's is the deterioration of the nervous system.
61
End of 9.9 Question: Peter is a 30 year-old-man whose father died of Huntington's disease. Neither Peter's mother nor much older sister shows any signs of Huntington's. What is the probability that Peter had inherited it?
Since his father had the disease, there is a 1/2 chance that Peter receives the gene (sister genotype is irrelevant).
62
What are techniques that can be used to idenify genetic disorders in babies?
Genetic testing, fetal testing, fetal imaging and newborn screening
63
What is genetic testing?
AKA genetic screening. Checks for recessive disease-inducing traits (such as Tay-Sachs, sickle-cell and CF).
64
What is fetal testing?
Two processes to get to fetal testing: amniocentesis, where the amniotic fluid surrounding the baby is sampled and tested. The fluid and its cells are cultured, before forming a karyotype. Down syndrome can be revealed, as well as Tay-Sachs through biochemical testing. The second way is chorionic villus sampling (CVS), taking villus from the placenta (the organ of nourishment for child). Again, karyotyping and genetic tests to determine a healthy baby. CVS can be done very early on in a pregnancy, but carries higher risk. However, the rate of complication for these procedures is high, so usually only high-risk cases are treated in this way.
65
What is fetal imaging?
Like an ultrasound; produces a picture of the fetus. An ultrasound is non-invasive. Other methods such as transvaginal ultrasound, include a probe. Another invasive method is fetoscopy, which produces the best quality image with the most complications.
66
What is newborn screening?
A standard procedure for checking for genetic disease in newborns. Used on PKU, for example.
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What is PKU?
phenylketonuria, recessive disorder that makes children unable to break down the amino acid phenylalanine, leading to developmental disabilities.
68
Why must ethics be consider in gaining information about a baby's genetic makeup?
Confidentiality, stigmatization, health insurance,
69
End of 9.10 Question: What is the primary benefit of screening by CVS? What is the primary risk?
CVS allows genetic screening to be performed very early in a pregnancy and provides quick results, but it carries a risk of a miscarriage.
70