Mendelian Genetics Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

Define ‘locus’

A

Position of gene on chromosome. Alleles, alt. forms of a gene, occupy the same locus. Different genes occupy different loci

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

Define allele

A

Alternative forms of a gene

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

What is a dominant allele and why is the dominant?

A
  • Allele showing its phenotype whether it’s homozygous or heterozygous.
  • In heterozygotes, gene pdt of the dominant allele masks the effect of the gene pdt expressed by the other (recessive) allele.
  • Dominant allele usually codes for functional protein (give e.g. if qsn has context); recessive alleles codes for non-functional protein ⇒ only 1 copy of dominant allele needed
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is a recessive allele?

A

Allele showing its phenotype only in presence of another identical recessive allele (homozygous recessive). In heterozygotes, effect of gene pdt expressed by recessive allele is masked by effect of gene pdt expressed by dominant allele

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

What is meant by codominant?

A

2 different dominant alleles both equally expressed and influence the phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is meant by incomplete dominance?

A

Phenotype of heterozygotes is intermediate between phenotypes of indiv homozygous for both alleles

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

What is meant by homozygous and heterozygous.

A

Diploid condition. Identical/differentalleles at locus on a pair of homologous chromosome

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

Explain how genotype influences phenotype

A

Genotype is the genetic makeup of an organism.
Expression of genetic info: Nt seq of alleles making up genotype is transcribed and translated, hence determining the 3D conf of protein, which determines the observable trait aka. phenotype.

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

What is phenotype?

A

Characteristic/trait of organism arising from interaction of genotype and environment

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

Explain how environment affects phenotype (+state examples)

A
  • Env switch certain genes on/off (affect expression): temp affecting coat colour inf Siamese cats, UV light affecting skin colour, food affecting whether eggs develop into worker or queen bees
  • Env effect greater on polygenes: height, skin colour
  • Env may induce mutation, affecting phenotype: Excess UV light–> chromosomal damage and skin cancer
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Explain how env results in characteristic coat pattern in Siamese cats

A

Fur is (by default) black when the enzyme is functional, but high temp inhibits/denature enzyme→ no pigment formed/white in warmer body while black pigment forms in cooler extremities

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

Explain how env determines whether fertilised eggs develop into queen bees or worker bees

A
  • Diet of larvae.
  • Larvae fed royal jelly develop into queen bee, as chemicals in royal jelly trigger expression of genes involved in the development of ovaries and reproductive organs.
  • Larvae fed nectar & pollen develop into worker bees
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

State the meaning of the term linkage

A

2 or more genes located on the same chromosome + physically close enough so that alleles of the 2 genes inherited tgt and don’t assort independently in meiosis (no 9:3:3:1).

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

Why are pea plants/drosophila (fruit flies) used in experiments?

A
  • Many distinct observable characteristics w contrasting forms (e.g. round/wrinkled seeds)
  • Easy to cultivate: ease in manipulating pollination – can do cross or self-pollination
  • Produces many offspring in one cross→ large sample size
  • Short life cycle/grow fast: no need wait long to study diff traits of plant appearing in many generations→ produces abundantly, large sample size
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is a test cross? What is its purpose?

A

Cross w an indiv expressing homozygous recessive trait→ reveal the genotype of an organism that exhibits dominant trait

  • If all offspring shows dominant trait→ parent is homozygous dominant
  • If offspring ratio is 1:1→ parent is heterozygous
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is mendel’s law of segregation?

A

2 alleles for each trait separate during gamete formation→ ensure parent w 2 copies of each gene can pass on either allele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Explain how diff traits can be inherited independently

A

(Mendel’s Law of Independent Assortment) Alleles of diff genes/traits on diff chromosomes→ assort independently as homologous pairs of chromosomes align randomly on either side of metaphase plate during MI/alignment of each homologous pair is independent of other pairs

18
Q

What ratio is obtained by AaBb x AaBb?

A

9:3:3:1

19
Q

What ratio is obtained when AaBb x aabb?

A

1:1:1:1

20
Q

With reference to ABO blood groups, explain what is meant by multiple alleles

A
  • trait controlled by 3 or more alleles
  • ABO blood group in humans: Io recessive to IA and IB; IA and IB co-dominant. Each code for a specific antigen on rbc. AB phenotype has both A and B antigens, while O phenotype has no antigens on rbc.
21
Q

What is a lethal allele?

A

Lethal allele causes death if the organism is homozygous for that allele. Those carrying lethal alleles are disadvantaged through impaired biochemical/physical functioning

22
Q

Explain linked genes to account for phenotypic observations

A
  1. 2 genes and are linked; on same chromosome
  2. Alleles G & L, and alleles g & l are on the same chromo., tend to be inherited together→ parental phenotypes GgLl and ggll occur in higher proportion
  3. Ggll and ggLl are recombinant phenotypes, a result of crossing over, which occurs by chance. Recombination freq is dependent on distance between 2 genes→ recombinant phenotypes in smaller proportion
23
Q

What affects the % of recombinants?

A

Gene loci closer tgt on same chromosome→ less likely to cross-over & exchange alleles→ ↑ chance of being inherited tgt; lower ratio/% of recombinants

24
Q

What is homogametic and heterogametic?

A

XX (homogametic); XY (heterogametic)

*for other animals, heterogametic may be female

25
Q

Why same some traits sex-linked?

A

Y chromosome smaller than X chromosome→ in XY, a portion of X has no homologous region on Y chromosome, and is always expressed→ traits determined by genes on non-homologous portion of X chromosome appear in males even if they are recessive

26
Q

Give 2 examples of recessive, sex-linked diseases

A
  • Haemophilia: XH: normal blood clotting; Xh: haemophiliac

- Red-green colour blindness

27
Q

What is a reciprocal cross? What is its purpose?

A

Reciprocal cross: 2 separate crosses using the same trait, but sexes are reversed→ determines if trait is sex-linked
Phenotypic freq of the 2 reciprocal crosses different→ trait is sex-linked

28
Q

What does the mode of inheritance consist of?

A

autosomal/sex-linked + dominant/recessive

29
Q

Pedigree analysis: How can you tell if the trait is dominant or recessive?

A

Dominant: all affected indiv have at least one affected parent; will not skip a generation
Recessive: has the condition, but neither parent has the condition

30
Q

Pedigree analysis: How can you tell if a trait is autosomal or sex-linked?

A

X-linked recessive: usually all/most males are affected (X females).
Autosomal: Mother does not pass the trait to all of her sons () (both males & females equally likely to be affected)

31
Q

Explain why there’s a range of phenotypes/how variation arises in this trait

A
  1. Range of phenotypes due to slight phenotypic differences that vary along a continuum, indicating continuous variation
  2. *Polygenic inheritance: multiple genes involved; additive effect of each gene, where each gene has a small overall effect→ bell-shaped curve
  3. *Phenotypes affected by environmental factors (e.g. skin colour)
32
Q

Compare discontinuous and continuous variation

A
  1. Distinct and discrete phenotypes VS range of phenotypes (slight phenotypic differences that vary along continuum)
  2. Controlled by diff alleles of a single/few genes VS polygenic inheritance (multiple genes, additive effect, each have small overall effect)
  3. Phenotypes unaffected VS affected by environment
32
Q

Compare discontinuous and continuous variation

A
  1. Distinct and discrete phenotypes VS range of phenotypes (slight phenotypic differences that vary along continuum)
  2. Controlled by diff alleles of a single/few genes VS polygenic inheritance (multiple genes, additive effect, each have small overall effect)
  3. Phenotypes unaffected VS affected by environment
33
Q

Define epistasis

A

interaction of genes at different loci, where a gene at one locus affects the phenotypic expression of a gene at a second locus
(modified 9:3:3:1 ratio)

34
Q

Explain epistasis at the mlc level

A
  1. Allele A codes for functional enzyme A that converts to .
  2. Allele B codes for functional enzyme B that converts to .
  3. Alleles a & b code for non-functional enzyme/inhibitor
  4. Genotype is epistatic over (& masks the phenotypic effect of) gene loci <b></b>
  5. (optional pt for more marks) Thus lack of func enzyme A results in despite presence of func enzyme B.</b>
35
Q

What is the chi-square test and what is its purpose?

A

compare sample result to expected results/known ratio→ determine whether difference in results is due solely to chance

36
Q

Outline the steps in a chi-squared test

A
  1. State expected phenotypic ratio and H0
  2. Calculate x^2 = Summation of (O-E)^2/E
  3. Calculate df = n-1
  4. Determine p
  5. Conclusion
37
Q

Suggest some reasons for the difference in results (chi-squared test)

A

Chicks may have died from other reasons

Small sample size→ effect of chance may affect results

38
Q

What is the t-test?

A

compare mean between 2 unpaired samples

39
Q

What conditions must be fulfilled to use the t-test?

A

for small sample size + assume samples follow normal distribution

40
Q

Outline the steps in a t-test

A
  1. State H0
  2. Calculate mean and summation(x-mean)^2 for each sample
  3. Determine n for each sample
  4. Calculate s for each sample,
    s = square root of [summation(x-mean)^2]/(n-1)
  5. Calculate df = n1 + n2 - 2
  6. Calculate t value
  7. Determine p
  8. Conclusion