Mendelian and Molecular Genetics Flashcards

1
Q

What are Mendel’s postulates?

A

Unit of genetic inheritance: 1 genes is inherited from each parent
Dominance/ Recessive
Segregation: Alleles are separated randomly in meiosis
Independent assortment: Alleles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is heritability?

A

how much of a characteristic is due to genetics or the environment: H2 = Genetic variance/ genetic + phenotypic variance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what is the goal of selective breeding?

A

To improve characteristics/ heritable qualities of the population.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the difference between genotype and phenotype?

A

genotype is the assortment of alleles, phenotype is the physical expression of the gene.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

describe 3 allelic interactions.

A
  • complete dominance: homozygous and heterozygous phenotypes are the same.
  • Incomplete dominance: Where there is an intermediate phenotype.
  • codominance: when the alleles affect the phenotype in separate distinguishable ways. ex) spotting gene in calico cats + piebalding gene.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what is pleiotropy?

A

when a gene has multiple phenotypic effects.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what is epistasis?

A

when an allele effects the expression of a different allele on a separate locus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what is the male sex genotype

A

heteromorphic XY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what are non sex chromosomes called?

A

Autosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what are bird sex chromosomes

A

F: ZW
M: ZZ

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What animals have temperature determining sexs

A

Crocodiles - extreme temp = F
Australian Skinks, Australian dragon lizards
Turtles - Cold = M

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is Sry

A

Sex determining region on the Y chromosome (leads to testes production)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

descrive XY gene

A

Hemizygous

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Describe the gene for Haeomophilia A

A

X linked recessive: Factor VIII is produced, causing impaired blood clotting. a

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Describe the gene for Canine Muscular Dystrophy

A

X linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Describe X chromosome inactivation, give an example where this is show phenotypically.

A

during embryological development an x chromosome will be inactivated by Lyonisation. Meaning only 1 gene in the X chromosome will be expressed (Dosage Compensation).
The inactive X chromosome will become a Barr Body within the cell.

ex) tortoiseshell cats are mainly female due to this.
One allele will code for orange fur, one for black.

17
Q

How are loss of function genes expressed

A

If both alleles are mutated

(gain of function is dominant)

18
Q

what is Heterosis

A

Crossing of homologous strains to form a stronger offspring.
AKA Hyprid vigor.
Used in agriculture

19
Q

Describe Overdominance and give an example

A

when heterozygotes create a superior phenotype to homozygous ex) Sickle Cell. Heterozygous individuals will have a lower degree of sickle cell (1 dom 1 recessive) so are malaria resistant. (erythrocytes will rupture if infected, so parasite cannot reproduce).

20
Q

What is Penetrance

A

how much a gene is expressed throughout a population

21
Q

what is population genetics:

A

the genetic difference within and between populations ex) Dog breeds

22
Q

what is the difference between quantitative genetics and qualitative genetics

A

qualitative is mendelian, individuals groups.
quantitative is on a scale, usually polygenetic

23
Q

describe the 4 processes of population genetics

A

selection
mutation
genetic drift - change in alleles frequency
genetic flow - population seperated

24
Q

Describe Genetic material

A

DNA - double helix running antiparallel, made of nucleotides linked by 5 3 phosphodiester bonds.
Bases are non overlapping.
Degenerate.

25
What is telomere and describe its function
the end of a chromosome. Protects the chromosome from degradation or unnecessary recombination
26
What is a Histone? what is its function?
a protein associated to DNA helps chromosomes condense
27
What is Chromatin? What are the different types?
the DNA + protein complex Euchromatin is less condensed, so easily transcribed. Heterochromatin is highly condensed
28
What is a nucleosome?
1.65 turns of of DNA wrapped around 8 histone proteins (histone octamer)
29
How is a chromosome formed?
an H1 histon links nucleosomes
30
What is Chromatin Remodelling
controlling how DNA is used and condensed.
31
describe ATP dependent remodelling
loosens nucleosome to make DNA easier to access
32
name and describe 3 different types of Covalent Histone Modification
- Acetylation: acetyl transferase adds acetyl group to the amino acid to dissociate it with the histone. (DNA becomes positive). - Methylation: methyl transferase inactivates chromatin so it binds tighter to the nuclear protein (becomes heterochromatin) so harder for transcription factors to reach. - Phosphorylation: Kinase exposes promoter to transcription factor
33
How is the histone modified?
Lysine rich N terminals extend out the nucleosome between the DNA. These tails are covalently modified which act as binding sites for regulatory proteins.
34
Which amino acids on the histone are modified by which covalent modification?
acetyllation and methylation of lysine methylation of arginine phosphorolation of serine.
35
What are Epigenetics ?
how environment effects the phenotype. Changes in wether the gene gets switched on or off, so the genotype stays the same. however is inherited
36
what causes epigenetic effects?
modifications after DNA replication ex) histone methylation, acetylation, phosphorylation, DNA methylation
37
What is metabolic loading
when consuming excess calories yet are nutrient deficient. will cause epigenetic in the foetus
38
what are the epigenetic changes associated with a low protein diet in the mother (in rodents) ?
the offsprings pancreatic weight increases, so there are less B cells, less insulin.
39
what is the function of non coding RNA?
regulated gene expression at a post translation level. makes up 90% of the genome.