Mendelian Genetics Flashcards

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1
Q

Describe the overview of Mendels Pea plant experiment

A

Strict control over which plants mated with which
Each plant has both male (stamens) and female (pistil) reproductive organs
Medel looked at 7 characteristics of pea plants with contrasting traits

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2
Q

What is the difference between a characteristic and a trait

A

Characteristic - heritable feature (physical feature)
Trait - each variant of a character

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3
Q

Describe the first step of Mendel’s pea plant experiment

A

Mendel grew true breeding plants – plants that always produce offspring with the same traits
Flower Colour:
True-bred plants with purple flowers will always produce plants with purple flowers
True-bred white will only produce white.
Mendel called this the P generation (parent generation)

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4
Q

Describe step 2 of Mendel’s pea plant experiment

A

Mendel set up monohybrid crosses
True bred plant with purple flower crossed with true bred plant with white flowers
Produced F1 generation
All F1 generation plants had purple flowers
With blending, inheritance would expect plants to be intermediate in colour
Mendel hypothesised that when the purple factor was present the recessive factor (white colour) did not show
Mendel called the purple flower colour the dominant factor

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5
Q

What was step 3 of Mendel’s Pea plant experiment

A

F1 generation self fertilized
Plants with white flowers reappeared in the F2 generation
Mendel recorded 705 plants with purple flowers and 224 with white flowers
Approximately 3:1 ratio
Medel found similar findings with other traits

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6
Q

What did Medel conclude from his pea plant experiments

A

An organism inherits 2 factors (we now know as alleles) for a characteristic
- Hereditary Particles - Genes
- Alternative Forms - Alleles
When the plant reproduces these 2 characters separate (segregate during gamete formation and end up in different gametes)

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7
Q

What is Medel’s law of segregation

A

Each gamete (sex cell) gives one factor (allele)
Each offspring gets one factor (allele) from each parent
Random fusion during fertilisation

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8
Q

What is a dominant trait

A

The observed trait

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9
Q

What is the recessive trait

A

The masked trait

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10
Q

If the organism has two dominant alleles then

A

the dominant trait will be expressed (PP)

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11
Q

If the organism has one dominant and one recessive allele

A

the dominant trait will be expressed (Pp)

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12
Q

If the organism has 2 recessive alleles

A

the recessive trait will be expressed (pp)

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13
Q

From Mendel’s Pea plant experiment, which trait was dominant and which one was reccessive

A

Purple was the dominant allele
White was the recessive allele

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14
Q

What are alleles

A

Different versions of a gene
E.g. the purple flower allele and the white flower allele are different versions of a gene at the same location on homologous chromosomes

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15
Q

Mendel also conducted experiments on more than one trait, setting up dihybrid crosses
What did he observe

A

That one trait did not affect another trait
So different factors (genes) segregate independently from one another during the formation of gametes
Mendel’s law of independent assortment: genes get shuffled - these many combinations are one of the advantages of sexual reproduction

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16
Q

Example: Dihybrid cross: cross true-breeding yellow round pea with true breeding green wrinkled peas

A
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17
Q

What are some recessively inherited disorders

A

Cystic fibrosis, Tay Sachs disease, Sickle cell anemia
The disease only shows in homozygous recessive individuals - inherit recessive allele from both parents
Heterozygotes are phenotypically unaffected but act as carriers of this disorder
Vast majority of diseases are recessive

18
Q

What are some examples of dominantly inherited disorders

A

Achondroplasia (dwarfism), Huntington’s disease
Most harmful alleles are recessive but some disorders due to dominant alleles

19
Q

How many human chromosomes are there
How many pairs of human chromosomes are there

A

46 chromosomes - 23 pairs of homologous chromosomes (maternal set and a paternal set)
22 pairs of autosomes, 1 pair of sex chromosomes

20
Q

What is a diploid cell

A

diploid number of chromosomes 2n=46
2 sets of chromosomes

21
Q

What is a haploid cell

A

Haploid number of chromosomes n=23
1 set of chromosomes

22
Q

What is mitosis
What is meiosis

A

Mitosis: process by which cells are replicated for growth, repair etc
Meiosis: process by which gametes are produced. Produces 4 daughter cells, each haploid (n) containing a single set of chromosomes

23
Q

Meiosis 1 has reductional division, meaning what

A

homologous pairs are separated reducing chromosome number by half

24
Q

Meiosis 2 has equational division, meaning what

A

sister chromatids are separated producing 4 haploid gametes

25
Q

Independent assortment of chromosomes during meiosis leads to what?

A

an individual producing a collection of gametes that differ greatly in the combinations of chromosomes inherited from parents
For humans (n=23) the number of possible combinations of maternal and paternal chromosomes in the gametes is 2^23 = 8.4 million

26
Q

Why is each chromosome not exclusively maternal or paternal origin

A

Because of the process of crossing over

27
Q

What is crossing over
How often does it occur
When does it occur during meiosis

A

Produces recombinant chromosomes that carry genes derived from two parents. The DNA of 2 non-sister chromatids (maternal and paternal) are joined - piece of maternal chromatid is joined to paternal chromatid beyond the cross over point and vice vera
Creates new combinations of maternal and paternal alleles
Average of 1-3 crossing-over events per chromosome pair
Occurs in prophase 1 when each gene on one homolog is aligned precisely with that on the other homolog

28
Q

What is the benefit of random fertilisation

A

Radom nature of fertilisation adds to genetic variation arising from meiosis
In humans each chromosome represents 1 of 8.4 million (2^23) possible chromosome combinations
2^23 * 2^23 = 70 trillion diploid combinations

29
Q

Describe situations when offspring don’t match mendelian patterns of inheritance

A

Genotypic ratios follow Mendel’s laws but phenotypes do not
E.g degree of dominance
Alleles can show differing degrees of dominance and recessiveness in relation to each other

30
Q

What is incomplete dominance

A

The phenotype of the heterozygote is intermediate between the phenotype of the dominant and recessive traits - blending of the traits
One trait is not really dominant over the other

31
Q

Give examples of incomplete dominance

A

Snapdragons
Human hair - curly (homozygous) or straight (homozygous)
Heterozygous = wavy hair

32
Q

Another example of non-mendelian patterns of inheritance is Codominance
What is this?

A

When both alleles for a trait are expressed in heterozygous offspring
The two dominant genes are expressed at the same time

33
Q

Give an example of Codominance

A

Glycoprotein on the surface of red blood cells
2 forms: M and N
LmLm = M
LnLn= N
LmLn = MN type

ABO blood group

34
Q

What does it mean by multiple alleles, give an example?

A

Most genes exist are more than two allels (not just two forms as in Mendel’s Pea plant) e.g. ABO blood group

3 allels of a single gene: Ia, Ib, Io
4 phenotypes: A, B, AB or O

35
Q

What does Pleiotriopy

A

Most genes have multiple phenotypic effects
For example: Pleitropic alleles are responsible for multiple symptoms associated with hereditary diseases such as cystic fibrosis and sickle cell anemia

36
Q

What is Epistasis

A

Phenotypic expression of gene at one locus affects another gene at a different locus e.g. labrador coat colour

37
Q

Explain how epistasis affects coat colour in labradors

A

Black colour is dominant to brown
BB, Bb = black or bb = brown
Second gene determines whether pigment will be deposited in hair
Dominant allele E results in deposition of either black or brown pigment
If the dog is homozygous recessive for the second locus (ee) then no deposition = yellow coat
Means there is no longer a 9:3:3:1 ratio

38
Q

What is polygenic inheritance

A

One characteristic influenced by many genes
Generally quantitative traits - continuous variation
Additive effect of two or more genes on a single phenotypic characteristic
E.g. height, skin colour

39
Q

Skin colour is an example of polygenic inheritance
Explain how it works

A

At least 3 separately inherited genes
Simplified version: 3 genes ABC with a dark skin allele for each gene contributing one unit of darkness to the phenotype and being incompletely dominant to the other allele
* AABBCC - very dark
* aabbcc - very light
* AaBbCc - intermediate
As alleles have a cumulative effect AaBbCc would be the same as AABbcc

40
Q

Give an example of when environmental factors will affect the phenotype for a character as well as the genotype

A

Hydrangea
Flowers of same genetic variety range in colour depending on soil pH

41
Q

Name some instances where Mendel’s laws do not apply

A
  • Mitocondria inheritance - mtDNA is solely inherited through the maternal line
  • Linkage - two genes that are close together physically
  • Linkage disequilibrium - two alleles that are not inherited separately