lecture 13: mendelian genetics Flashcards

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1
Q

What did Mendel study? (2)

A

Heredity and how are traits passed on from parents to offspring?
—> Gave basics of genetics and explain a big part of them

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2
Q

What are the 2 hypotheses for heredity?

A
  1. Blending hypothesis

2. Particulate hypothesis

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3
Q

What is the blending hypothesis?

A

Idea that genetic material from the two parents blends together to produce a trait

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4
Q

What is the particulate hypothesis?

A

Idea that parents pass genetic material as discrete heritable units (now known as “alleles”) that interact to produce a trait —>correct hypothesis

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5
Q

What are the 5 aspects of Mendel’s study?

A
  1. Used pea plants as model organism
  2. Many varieties of these plants with distinct traits for various heritable characters
  3. Matings are controlled: take sperm and egg from white/purple or contrary
  4. Matings produce many offsprings
  5. Track many characters in either-or manner (two traits)
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6
Q

Mendel’s Experiment Design?

A
  1. Parental generation (P): true-breeding (of 1 trait) X true-breeding (of trait 2) —> purple flower X white flower
  2. 1st first filial generation offspring (F1)
  3. Self-pollination (self-fertilization) of F1
  4. 2nd filial generation offspring (F2)
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7
Q

What is true-breeding?

A

Plants that produce offspring of the same variety when they self-fertilize

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8
Q

What are Mendel’s three principles of inheritance?

A
  1. Segregation
  2. Dominance
  3. Independent Assortment
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9
Q

What happened at the F1 generation? (hybrids)

A

All hybrid plants of F1 were purple

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10
Q

What happened at F2 generation?

A

3:1 ratio of purple to white flowers

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11
Q

Mendel conclusion?

A
  • Observed same pattern of inheritance in six other pea plant characters (3:1 ratio)
  • Results support particulate hypothesis of heredity
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12
Q

What is Mendel’s model? (5)

A
  1. For each character, an organism inherits one heritable factor (gene) from each parent
  2. Alternative versions (alleles) of these heritable factors account for variations in inherited characters
  3. One allele is dominant while the other is recessive
  4. The heritable factors (genes). are segregated (separated) during gamete formation and are packaged into different gametes
  5. Sex of parent passing on the allele does not affect the inheritance pattern —> give same results
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13
Q

What is a Punnett square?

A

Matrix which predicts the probability of an offspring’s genotype and phenotype for a particular set of parents

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14
Q

What are the phenotypic ratios and genotypic ratios in Mendel’s study?

A

Genotypic Ratio: 3:1 purple vs white

Phenotypic Ratio: 1 homozygous dominant (PP), 2 heterozygous (Pp), 1 homozygous recessive (pp)

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15
Q

What makes an allele dominant and what makes it recessive?

A

Dominant: when effects of an allele can detected regardless of the alternative allele
Recessive: if the effect of an allele is masked in the heterozygous condition

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16
Q

How can mendelian traits in humans be disorders?

A
  • Disorders caused by one gene (monogenic disorders)

- Can be inherited as a recessive or dominant trait depending on the allele involved in the disorder

17
Q

What are carriers?

A

Heterozygotes that have a disorder inherited in a recessive fashion

18
Q

What is albinism?

A
  • Problem with pigmentation of skin and hair

- A recessive disorder (aa) —> homozygous recessive

19
Q

What is achondroplasia (dwarfism)?

A
  • Dominant disorder (Dd; heterozygous or homozygous dominant)
  • Only possibility to be “normal” = dd = homozygous recessive) —> so impossible to be a carrier and have dwarfism —> so two no-dwarf parents cannot have a dwarf child
20
Q

Does dominance have to do with frequency in population?

A

No, the dominant allele is not the most prevalent in population
- Concerns only the alleles

21
Q

What is a monohybrid cross and a dihydrid cross?

A

Hybrid following a single character

22
Q

What are the two characters that Mendel studied for his dihybrid crosses?

A

Colour (yellow and green) and shape (round and wrinkled)

23
Q

What were the dominant and recessive traits in Mendel dihybrid crosses?

A

Dominant: Yellow and Round
Recessive: Green and Wrinkled

24
Q

What are the 2 hypotheses of Mendel’s dihybrid crosses?

A
  1. Dependent Assortment

2. Independent Assortment

25
Q

What is Dependent Assortment?

A

Traits are inherited as a package —> alleles are linked and assorted dependently into the same gamete —> can only have the same combinations as the parents

26
Q

What is Independent Assortment?

A

Traits are not inherited as a package —> alleles are not linked and are independently assorted into gametes —> parental combinations but also new combinations

27
Q

Which of the 2 hypotheses did Mendel observe and what was the phenotypic ratio?

A

Independent assortment

9:3:3:1

28
Q

What two informations explain Mendel’s laws of segregation and independent assortment and how?

A
  1. Chromosomes are the vehicles of heredity

2. How meiosis works and shuffles alleles into unique combinations

29
Q

What two informations explain how alleles arise and how some alleles are dominant or recessive?

A
  1. Genes are the units of heredity

2. What genre are, how they work, and how mutation can change them

30
Q

Explain “Chromosomes are vehicles of heredity.”

A
  • All genes contribute to specific character —> found at specific locations (loci) —> on specific chromosome
  • We inherit homologous chromosomes for every chromosome —> therefore pairs of each gene
  • Pairs of genes can differ —> different versions (different alleles) OR can be identical (different alleles) —> encode different proteins —> lead to different traits

—>SEGREGATION: packages ONLY 1 of the homologous pairs in gametes

31
Q

Explain the principle of segregation

A

Alleles segregate during gametogenesis because they are located on homologous chromosomes (1 on each) and these chromosomes are separated during Meiosis I

32
Q

Explain principle of independent assortment

A

Alleles are assorted independently because the genes are located on different chromosomes —> during Meiosis I, maternal and paternal chromosomes from homologous sets are RANDOMLY DISTRIBUTED into daughter cells

33
Q

Explain “genes are units of of heredity” and what are the consequences of this?

A

Different genes = Different genotype = May cause differences in phenotype —> How alleles arise

34
Q

How could an allele be dominant (normal)?

A

Dominant (normal) alleles encode a functional protein while recessive alleles produce non-functional proteins —> Need enough functional protein to produce a normal phenotype

35
Q

What is a protein P and what is its relationship with phenotype?

A
  • An enzyme
  • Amount of functional protein P = molecular connection between genotype and phenotype —> having functional protein P = having normal phenotype
36
Q

What is complete dominance?

A

Where dominant allele completely masks the effect of the recessive allele in heterozygous conditions —> normal (dominant) phenotype

37
Q

Is having one copy of the normal (dominant) allele enough to produce a normal phenotype?

A

Yes. One copy produces enough functional proteins = produce normal phenotype

38
Q

Does Mendel’s Model explain all characters?

A

No, the inheritance pattern of MOST characters do not follow his simple model

39
Q

What are the 2 components of the Theory of Inheritance?

A
  1. Principle of Segregation

2. Principle of Independent Assortment