Unit 3: Introduction to animal genetics (Lecture 1-2) Flashcards

1
Q

What is a gene ?

A

Part of the DNA sequencing that encodes a protein

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2
Q

What is an allele ?

A

Different forms of the same gene

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3
Q

What is the genotype ?

A

The combination of alleles for a gene locus

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4
Q

What is Mendel’s first principle ?

A

The principle of segregation

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5
Q

What is the principle of segregation ?

A

That for any particular trait during gamete formation the two alleles in each parent separate and only one allele is passed to the offspring

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6
Q

What is a monohybrid cross ?

A

A genetic cross that examines the inheritance of a single trait

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7
Q

What statistical test can be used to confirm the principle of segregation ?

A

Chi squared

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8
Q

What is Mendels second principle ?

A

The principle of independent assortment

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9
Q

What is the principle of independent assortment ?

A
  • That when a parent is segregating two or more gene loci, alleles for each gene are passed to the offspring independently of each other
  • Combinations of phenotypes present in neither parent will be produced
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10
Q

What is a dihybrid cross ?

A

A cross that examines the inheritance of 2 genes simultaneously

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11
Q

What is the F2 ratio for a dihybrid cross ?

A

9:3:3:1

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12
Q

What is a wild type allele ?

A

A normal, unaltered allele

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13
Q

What is the predominant allele at the gene locus in the population ?

A

The wild type allele

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14
Q

What are the 3 types of alleles ?

A

1) Loss of function alleles
2) Gain of function alleles
3) Isoalleles

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15
Q

What is a loss of function allele ?

A
  • Where the gene product has reduced activity compared to the wild type
  • Tend to be recessive to wild type
  • Has no overall effect on the phenotype
  • Seen in lactose intolerance
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16
Q

What is a gain of function allele ?

A
  • Where the gene product has increased activity with respect to wild type
  • Generally dominant to wild type
  • Involved in cancer
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17
Q

What is a isoallele ?

A
  • Neutral allele
  • Mutant allele has same action as wild type allele
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18
Q

What are the 5 modes of inheritance leading to genetic disease in domestic animals ?

A

1) Autosomal dominant
2) Autosomal recessive
3) X linked recessive
4) Sex limited inheritance
5) Polygenic or complex

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19
Q

What is an autosome ?

A

Anything that is not a sex chromosome

20
Q

What is autosomal dominance ?

A
  • Gene on autosome
  • Only one copy of mutated allele needed for phenotype
  • Passes from one generation to the next without skipping a generation
21
Q

Give an example of autosomal dominance in cats

A

Lack of tail in Manx cats

22
Q

What is autosomal recessive ?

A
  • Gene on autosome
  • Two copies of mutated allele required for phenotype
  • Commonest mode of inheritance of single gene disorders in domestic animals
  • Can skip many generations
  • Frequency increases with inbreeding
23
Q

Give an example of autosomal recessive in bulls

A

Double muscling, extreme muscularity in proximal fore and hindquarters

24
Q

What is incomplete penetrance ?

A

When offspring has the genotype but does not express the phenotype

25
Q

What is X-linked recessive ?

A
  • Where the gene is on the X chromosome
  • Usually males are affected and females are the carriers
26
Q

Give 2 examples of X-linked recessive in dogs

A
  • Haemophilia A in dogs- Failure of blood clotting
  • Von Hillebrands disease- blood clotting disorder
27
Q

What is sex linked inheritance ?

A

When the gene is on an autosome but the condition is only expressed in one sex

28
Q

What is polygenic inheritance ?

A

Genotype and environment interaction

29
Q

What does it mean when a trait is said to be multifactorial ?

A

When a large number of factors, both genetic and environmental are involved

30
Q

What are the 2 Hardy Weinberg equations ?

A

p^2 + 2pq + q^2 = 1
p + Q = 1

31
Q

What letter can be used to represent affected individuals ?

A

q^2

32
Q

What letter can be used to represent the frequency of carriers ?

A

2pq

33
Q

If allele frequencies deviate from hardy Weinberg equilibrium than what 4 things need to be considered ?

A

1) If one allele is advantageous
2) Genetic drift
3) Denovo mutations
4) Non random mating

34
Q

What is a mutation ?

A

An error in the replication of DNA or in the separation of chromosomes during cell division

35
Q

What are the two categories of mutation ?

A

1) Point mutations
2) Chromosome mutations

36
Q

What is a point mutation ?

A

Altered nucleotide sequence of a gene such as substitutions, insertions or deletions. Uncorrected mistakes during DNA replication

37
Q

What is a chromosome mutation ?

A

Errors during cell division such as translocations, deletions and alterations in chromosome number

38
Q

What are the 5 types of chromosome mutation ?

A

1) Translocation
2) Inversion
3) Deletion
4) Duplication
5) Chromsome disjunction

39
Q

What is translocation ?

A

Where one piece of chromosome is moved to another, often reciprocal with swapping of material

40
Q

What is an inversion ?

A

Where segments of the chromosome flips its orientation with respect to the rest of the chromosome

41
Q

What is a deletion ?

A

Where a large segment of chromosome is deleted resulting in the loss of a number of genes

42
Q

What is a duplication ?

A

Where some genes are duplicated on the same chromosome

43
Q

What is chromosome non-disjunction ?

A

Where chromosomes fail to separate during cell division resulting in one daughter cell having an extra chromosome and the other daughter cell lacking one

44
Q

What are the 6 types of single base mutations ?

A

1) Silent mutation
2) Nonsense mutation
3) Missense mutation
4) Splice site mutation
5) Insertion
6) Deletion

45
Q

What is a single nucleotide polymorphism ?

A
  • A point mutation
  • Represents the rare allele (frequency of at least 1%)