Genetics Exam 1 Flashcards

1
Q

What are the different chromosomes for the following species?

Humans
Birds
Crickets
Bees

A

Humans XY-XX
Birds ZZ-ZW
Crickets X:XX
Bees: Haploid:Diploid

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2
Q

What does a recessive pattern look like in a phenotype… Draw it out

A

Unaffected heterozygous parents with some affected offspring

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3
Q

What are dominant patterns patterns in Pedigrees?

A

Effected Patterns with non affected off springs

Affected child = affected parents

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4
Q

What is a Loss of Function Allele

A
  • Recessive
  • Referred to as knockout
  • Wild type compensates for recessive loss of function trait
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5
Q

What are the characteristics of a Gain of Function Mutation

A
  • Dominant trait
  • Gaining an abnormal function
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6
Q

What are the characteristics of a Dominant Negative Mutation

A
  • Dominant
  • When a mutant allele antagonizes the wild type
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7
Q

What are the characteristics of Haploinsuffiencies

A
  • Dominant
  • Loss of function mutation but wild type CANNOT compensate
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8
Q

What describes Incomplete Penetrance?

How does this look on a pedigree?

A
  • When a dominant allele does not effect phenotypic outcome
  • Seen in dominant traits skipping over generations
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9
Q

Incomplete Dominance

A

The heterozygote offspring exhibits is intermediate between phenotypes

Ratio 1:2:1

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10
Q

Over Dominance

A

Known as the “heterozygote advantage”

Heterozygotes are different and often offer advantages over homozygous individuals

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11
Q

Sickle Cell is an example of……

A

Over Dominance: “heterozygote advantage”

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12
Q

Codominance

A

Both alleles are expressed and and affect phenotypes

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13
Q

Blood type AB is an example of….

A

Codominance

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14
Q

Describe Complementation

A

Two affected parents have unaffected offspring

Mutations are present in separate genes which produces a wild type

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15
Q

How can you determine if genes are on the same gene (allelic) using a complementation table?

A

Negative sign (-) means that genes are allelic

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16
Q

How can you determine complementation groups using a complementation table?

A

Complementation groups are genes that do not complement one another and therefore effect the same gene

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17
Q

Epistasis

A

This is when a gene mask the phenotypic effects

If there is a recessive homozygous trait, masking occurs

Ratio- 9:7

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18
Q

What describes Pleiotropy

A

Where a mutation/gene effects multiple traits

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19
Q

Describe what Modifiers are

A

Alleles of one gene alters the phenotype of another genes

Ex: Mice ( black x brown x white )

9:3:4

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20
Q

What is Redundancy?

A

Phenotype is only affected when both traits are homozygous recessive.

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21
Q

Lethal Alleles

A

When a certain combination leads to death

2:1

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22
Q

How can you utilize the CHI Squared Test to test the validity of a test cross?

A

x^2
= Sum (obs-exp)^2/exp

23
Q

What is linkage?

A

When genes are close on a chromosome and travel together as a result

24
Q

What are the two cross over types?

A

Single Crossover
Double Crossover

25
How is linkage tested?
CHI Square Test Hypothesis: Genes assort independently
26
Linkage Mapping
Map Distance = Number Recomb/total offspring x 100
27
How is gene order determined?
By determining the parental offspring and the double recombinants, then identifying the different gene between the two. (this is the middle gene)
28
What is the probability of a double crossover?
Equation used is map distance formula. P_single cross x P_single cross x single recomb
29
What are the process that strange chromosome structure?
Deletion Duplication Inversions Translocations
30
What is a deletion?
Loss of a chromosome segment (change in DNA content)
31
What is a duplication?
Addition of extra chromosome segments
32
What are some characteristics of duplications/deletions
Phenotype consequences depend on amount of gene loss Caused by abnormal cross over Chane in DNA content
33
What is an inversion?
An inversion is a flip between chromosomes
34
What is an inversion loop?
An inversion loop is formed so chromosomes can align during an inversion Crossing over during an inversion loop is very dangerous to phenotype outcomes
35
What is a Pericentric Inversion?
When an inversion occurs over the centromere
36
What is a Paricentric Inversion?
When an inversion occurs outside of the centromere Produces Acentric chromosome: no centromere Diecentric Chromosome: multiple centromeres
37
What is the outcome of a Paracentric Inversion
Acentric Chromosome: no centromere Diecentric Chromosome: multiple chromosomes
38
Products of crossing a regular chromosome with a Paracentric Chromosome
2 normal chromosomes 1 Duplicate 1 Deletion
39
Products of crossing a regular chromosome with Paricentric Chromosome
2 normal chromosomes 1 acentric 1 dicentric
40
What is the breakpoint effect?
When an inversion break occurs at a vital gene producing to unusable portions of a chromosome
41
What is the position effect?
When during an inversion a gene is repositioned in a way that alters its expression
42
How would you describe a translocation?
Segment of a chromosome becoming attached to another
43
What is Reciprocal (balanced) Translocations?
When two nonhomologous chromosomes exchange genetic information This can be used to repair a broken chromosomes
44
What is an unbalanced translocation?
When the amount genetic information is disrupted due to chromosomes detaching/reattaching
45
If translocation occurs what is the result of having Alternate Segregation during Anaphase I ?
2 daughter cells with normal chromosomes 2 daughter cells with translocated chromosomes
46
If translocation occurs, what is the result of having Adjacent-1 Segregation during Anaphase?
- nonhomologous chromosomes separate into same cell 4 unbalanced daughter cells consisting of 1 regular chromosome/1 translocated chromosomes
47
If translocation occurs, what is the result of having Adjacent-2 Segregation during Anaphase?
Centromeres do not separate properly 4 unbalanced daughter cells with 1 regular chromosome/1 translocated chromosome 1 cell consist of 2 centromeres 1 cell consist of no centromeres
48
What is Aneuploidy?
A variation in the number of chromosomes caused by the failure of homologous chromosomes separating
49
What is aneuploidy called in tissue?
Endopolyploidy
50
What does trisomy and monosomy mean?
Trisomy: +1 Chromosome Monosomy: -1 Chromosome
51
Law of Segregation
Each allele is separate and randomly passed down between generations Dihybrid cross Yields 3:1 Phenotype
52
Law of Independent Assortment
Allele segregation is independent to segregation of another gene 2 Factor Cross 9:3:3:1 Phenotype Ratio
53
What are all of the known phenotypic ratios?
Mendelian Inheritance 9:3:3:1 , 3:1 Incomplete Dominance 1:2:1 ( intermediates ) Lethal Alleles 2:1 Epistasis 9:7 ( genes masking another.. if there is a recessive trait it is masked ) Modifiers 9:3:4 ( creation of new phenotypes) Redundancy 15:1 - need two recessive genes to show phenotype
54
Draw examples for the following phenotypes 9:3:3:1 3:1 9:3:4 15:1 2:1 1:2:1 9:7
see drawings