Mendelian Genetics (Lec 1 and 2) Flashcards

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1
Q

Father of Modern Genetics

A

Gregor mendel

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2
Q

Why were garden peas used in Mendel’s experiments? (5)

A

Monoecious - Can self or cross pollinate
Short Generation time
Many offspring
Easy to care for
Many paired characteristics

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3
Q

Given a cross between two heterozygous parents, what is the genotypic and phenotypic ratio expected from an autosomal dominant trait? Let A and a be the alleles of the gene.

A

Genotypic - 1:2:1 AA:Aa:aa
Phenotypic - 3:1 A_:aa

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4
Q

Give the Genotypic and Phenotypic ratio of the ff, let A and a be the dominant and recessive allele respectively:

AA x AA
AA x Aa
Aa x aa
AA x aa
aa x aa

A

AA x AA - G: 1 AA ; P: 1 A_
AA x Aa - G: 1:1 AA:Aa ; P: 1 A_
Aa x aa - G: 1:1 Aa:aa ; P: 1:1 A_:aa
AA x aa - G: 1 Aa ; P: 1 A_
aa x aa - G: 1 aa ; P: 1 aa

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5
Q

What is a test cross? How does it do what it does?

A

A test cross is used to determine the genotype of an unknown dominant phenotype.

This is done by crossing it with a homozygous recessive phenotype with a known genotype and determining based on mendelian ratios

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6
Q

If a test cross of an unknown Purple flower was crossed with a white flower with genotype pp, what is the genotype of the purple flower if in 423 offspring, 215 were purple and 208 were white? Assume autosomal dominance

A

The unknown genotype is Pp

Since the ratio is ~50% purple and 50% white

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7
Q

What is the law of segregation?

A

Alleles for each trait segregate or separate during gamete formation such that there is only one factor from each pair.

Two alleles for one trait seperate; have a 50-50 chance for expression

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8
Q

Given a dihybrid cross of AaBb x AaBb, what are the expected genotypic and phenotypic ratios?

A

Phenotypic - 9:3:3:1 A_B_:A_bb:aaB_:aabb

Genotypic - 1:2:1:2:4:2:1:2:1
1 YYRR 2 YYRr 1 YYrr 1:2:1
2 YyRR 4 YyRr 2 Yyrr 2:4:2
1 yyRR 2 yyRr 1 yyrr 1:2:1

Tip: For genotypes, you can set it up first as
1:2:1 AA:Aa:aa and 1:2:1 BB:Bb:bb
Then multiply it like a polynomial, FOIL method

1x1 = 1AABB; 1x2 = 2AABb; 1x1 =1AAbb
2x1 = 2AaBB; 2x2 = 2AaBb; 2x1 =2AAbb
1x1 = 1aaBB; 1x2 = 2aaBb; 1x1 =1aabb

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9
Q

What is the Law of Independent Assortment?

A

Pairs of factors for one trait segregate independently of the factors of other traits

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10
Q

What are the 5 mendelian assumptions?

A

Each trait has a corresponding pair of factors

Alleles are found in nucleus

One allele (dominant) will always mask the effect of the other (recessive) on the same locus.

Trait from each locus is fully expressed

No mutations have occured

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11
Q

What is Achondroplasia, what causes it?

A

Dwarfism, autosomal dominant mutation in fibroblast growth factor receptor gene 3 (FGFR3) on 4p16.3

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12
Q

What is Huntington disease and what causes it?

A

Muscle locking (seizure-like) symptoms due to nerve cell degeneration.

Caused by trinucleotide repeat expansion (CAG) in the Huntingtin (Htt) Gene on 4p16.3

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13
Q

What is cystic fibrosis and what causes it?

A

Mucous accumulation in airways causing decreased gas exchange

Caused by mutation in CFTR gene found in 7q31.2

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14
Q

Problem Solving Hehe

Given: Htt Gene for Huntington disease is an Autosomal Dominant Trait; Both parents are heterozygous; they have 4 kids.

Required: Probability of all kids being affected

A

Solution:
Since it is Hh x Hh, and we are looking the phenotypic ratios are 3:1 Affected:Unaffected, therefore, the answer is

P(4H_) = (3/4)^4 = 81/256 = 0.316

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15
Q

Given: Htt Gene for Huntington disease is an Autosomal Dominant Trait; Both parents are heterozygous; they have 4 kids.

Required: Probability of all kids being unaffected

A

Solution:
Since it is Hh x Hh, and we are looking the phenotypic ratios are 3:1 Affected:Unaffected, therefore, the answer is

P(4hh) = (1/4)^4 = 1/256 = 3.906e-3

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16
Q

Given: Htt Gene for Huntington disease is an Autosomal Dominant Trait; Both parents are heterozygous; they have 4 kids.

Required: Probability of having 3 kids unaffected and 1 kid affected

A

Solution:
Follow 3:1 phenotypic ratio
Using binomial theorem:
P = nCrP(A)^(r)P(B)^(n-r)

P(3 unaffected and 1 affected):
4C3(1/4)^(3)3/4^(1) = 4 * (1/64) * (3/4)
P(3hh,1H_) = 3/64

17
Q

Given: Htt Gene for Huntington disease is an Autosomal Dominant Trait; Both parents are heterozygous; they have 4 kids.

Required: Probability of having the first 3 kids unaffected and last kid affected

Bonus: What is the diff with having 3 kids unaffected and 1 kid affected

A

Solution:
Follow 3:1 phenotypic ratio
Multiply probability for each child

P(1-3 hh, 4H_) = (1/4)^(3)*3/4^(1) = 3/256

Bonus: Since there is a specific arrangement asked, no need to multiply by combination to account for the different sequences possible

18
Q

Given: Htt Gene for Huntington disease is an Autosomal Dominant Trait; Both parents are heterozygous; they have 4 kids.

Required: If the first kid is already affected, what is the probability that they are Homozygous?

A

Solution:
Follow 1:2:1 genotypic ratio
Since its known they are affected, remove the aa from the count

1:2 AA:Aa

Therefore your probability
P(AA) = 1/3

19
Q

What is the product rule of probability?

A

Keyword: “AND”, the combined probability of two independent events is equal to the product of their probabilities

20
Q

What is the sum rule of probability?

A

Keyword: “OR”, combined probability of two mutually exclusive events is equal to sum of their individual probabilities

21
Q

What is the combined probability of two non-mutually exclusive events?

A

Let A and B be 2 events.
The sum of probability is
P(AnB)=P(A) + P(B) - P(AUB)

where P(A) is the probability of event A
P(B) is the probability of event B
and P(AUB) is the Union or the overlap of A and B.

Correction, its -P(AUB)

22
Q

A man and a woman, both of whom are heterozygote normal for cystic fibrosis (CF), decide to have 5 children.

How many combinations are possible where two are normal and three are with CF?

A

Since heterozygote normal, Cc x Cc (Dihybrid Cross); Phenotypic ratio is 3:1::Unaffected:Affected

5 children, take 2 or 5C2
5C2 = 5!/(3!*2!) = 20/2 = 10

23
Q

A man and a woman, both of whom are heterozygote normal for cystic fibrosis (CF), decide to have 5 children.

What is the probability that all children will be normal?

A

Since heterozygote normal, Cc x Cc (Dihybrid Cross); Phenotypic ratio is 3:1::Unaffected:Affected

P(5A_) = (3/4)^5 = 243/1024

24
Q

A man and a woman, both of whom are heterozygote normal for cystic fibrosis
(CF), decide to have 5 children.

What is the probability that three children will be normal and two will have
CF?

A

Since heterozygote normal, Cc x Cc (Dihybrid Cross); Phenotypic ratio is 3:1::Unaffected:Affected

P(2A_,3aa) = 5C3 * (3/4)^3 * (1/4)^2
P(2A_,3aa) = 135/512

25
Q

A man and a woman, both of whom are heterozygote normal for cystic fibrosis
(CF), decide to have 5 children.

What is the probability that the first child is normal, the second is affected with CF, the third is normal, the fourth is affected, and the fifth is normal?

A

Since heterozygote normal, Cc x Cc (Dihybrid Cross); Phenotypic ratio is 3:1::Unaffected:Affected

Just multiply the probabilities for each child

3/4 * 1/4 * 3/4 * 1/4 * 3/4 = 27/1024

26
Q

A man and a woman, both of whom are heterozygote normal for cystic fibrosis
(CF), decide to have 5 children.

Given that their first child is normal, what is the probability that the child is a carrier?

A

Since heterozygote normal, Cc x Cc (Dihybrid Cross); Genotypic ratio is
1:2:1::AA:Aa:aa

Since we know the child is unaffected, the only choices are
1:2::AA:Aa -> 2/3 Aa Therefore, the probability they are a crarrier is 2/3

27
Q

A cross between two purple-flowered and yellow-seeded pea plants yielded the following results:

purple flowers, yellow seeds: 587
purple flowers, green seeds: 197
white flowers, yellow seeds: 168
white flowers, green seeds: 56

A. What are the most probable genotypes of the parental strains?

B. Prove your hypothesis by conducting a Chi square test.

A

A. Check the ratios of the results. For this example the ratios are roughly 9:3:3:1 for
P_Y_:P_yy:ppY_:ppyy therefore it is a Dihybrid cross. The parents are both PpYy.

B. Check this sheets na lang:

https://docs.google.com/spreadsheets/d/1WXPyd0dlYTV3we4bHSwdTvQBMZ7iOq2prKBuXRYUpL4/edit?usp=sharing

tl:dr acceptable hypothesis.

28
Q

Hydration check

A

Gl