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Gene Hunting and Mapping

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Year 2 Quiz on Gene Hunting and Mapping, created by gina_evans0312 on 27/12/2013.
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Quiz by gina_evans0312, updated more than 1 year ago
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Created by gina_evans0312 almost 11 years ago
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Resource summary

Question 1

Question
Linkage mapping- determining the distance between & order of genes
Answer
  • True
  • False

Question 2

Question
Genetic maps are measured in bp, physical maps in cM
Answer
  • True
  • False

Question 3

Question
Linkage _ reflects gene proximity
Answer
  • Directly
  • Indirectly
  • Loosely

Question 4

Question
Genes on different chromosomes link dependently
Answer
  • True
  • False

Question 5

Question
What are the two definitions of haplotype?
Answer
  • A set of genes on the same chromosome
  • The genes contained in two homologous chromosomes
  • A set of genetic determinants

Question 6

Question
What does this symbolise?
Image:
Theta (image/png)
Answer
  • The recombination frequency
  • The location of the SNP marker
  • The first infected generation

Question 7

Question
Name two resons why large families are required for linkage studies in humans (for an accurate result)
Answer
  • Human families are small
  • Humans cannot be bred just to investigate phenotypes
  • Human genes are highly conserved
  • Human gene markers are rare

Question 8

Question
If 15% of meioses in a study show crossover, what is the recombination frequency?
Answer
  • 15%
  • 30%
  • 85%

Question 9

Question
Loci with a recombination factor of 50% have the same chance of being separated as loci on different chromosomes
Answer
  • True
  • False

Question 10

Question
Name the two steps required for functional mapping
Answer
  • Find what haplotype those with the mutations share
  • Find what markers those with the mutations share
  • Look for markers close to it
  • Look for genes close to it

Question 11

Question
What is the 'Critical Region'
Answer
  • There area containing the mutated gene
  • The area containing the related marker

Question 12

Question
A, B, C & D are all markers. B and C are found in homozygous form in people with autosomal recessive deafness. Where is the critical regions for genes causing this deafness?
Image:
Critical_Region (image/png)
Answer
  • Between B & C
  • Between A & D
  • Between B & D
  • Between A & C

Question 13

Question
Assuming a person is heterozygous, what do we need to know once markers for the alleles have been identified?
Answer
  • Which marker is segregated with which allele i.e A1D A2d, or A1d A2D
  • Which allele is diseased i.e. D or d
  • Which marker has bonded correctly

Question 14

Question
What is the difference between phase known and phase unknown?
Answer
  • In phase known, we know which allele contains the diease
  • In phase known, we have the genotype of the grandparents
  • In phase known, we don't know how many recombinants there are

Question 15

Question
Fewer recombinants mean the hypothesis is more likely
Answer
  • True
  • False

Question 16

Question
Assume 12% of people are recombinants - how many cM are the genes?
Answer
  • 24cM
  • 12cM
  • 88cM

Question 17

Question
Name 3 things that can affect the recombination process
Answer
  • Crossover hotspots
  • Crossovers are common near centromeres
  • Crossovers are rarer near centromeres
  • Oocytes crossover more frequently than sperm
  • Sperm crossover more frequently than oocytes

Question 18

Question
LOD - Log of the Odds Ratio
Answer
  • True
  • False

Question 19

Question
When using LOD, what are the two hypothesis?
Answer
  • There is a given (previously calculated) linkage frequency
  • There is null (50% or more) linkage frequency

Question 20

Question
Assuming 6 recombinants out of 10 children what is the equation for the statistical likelihood of 6 recombinents?
Answer
  • [(1-θ)^6] x θ
  • [(1+θ)/6] x θ
  • [6 x θ] x θ

Question 21

Question
The equation for NO linkage = [(1-θ)^no of children in study]
Answer
  • True
  • False

Question 22

Question
A = Liklihood of linkage B = Liklihood of no linkage What is the LOD full equation?
Answer
  • Log10 (A/B)
  • Log10 (B/A)
  • Log10 (A-B)
  • Log10 (A x B)

Question 23

Question
-2 is considered significant, 3 is considered no linkage
Answer
  • True
  • False

Question 24

Question
It is thought that 4 of 13 children are recombinants- calculate the LOD and see if this is significant
Answer
  • Yes
  • No

Question 25

Question
LOD scores are not additive
Answer
  • True
  • False

Question 26

Question
Linkage analysis in complex disorders is much more difficult
Answer
  • True
  • False

Question 27

Question
The first step of mapping complex disease genes is demonstrating how important the genes are on heritability
Answer
  • True
  • False

Question 28

Question
How do you gain estimates of heritability in complex disorders?
Answer
  • Look at mono/dizygotic twins
  • Look at siblings
  • Look at familial generations

Question 29

Question
Why is linkage analysis so much more difficult with complex disorders?
Answer
  • We don't know penetrance
  • We don't know how many genes are involved
  • We don't know the relative effect of each gene

Question 30

Question
Non-parametric linkage analysis typically uses what?
Answer
  • Affected twins
  • Affected sibling pairs
  • Affected spouses

Question 31

Question
What is true of NPL?
Answer
  • No assumptions of no of loci/environmental role
  • Not concerned about penetrence
  • Assumed diseased individuals have alleles in common

Question 32

Question
This image shows two siblings that are...?
Image:
I.B.D (image/png)
Answer
  • Identical by state
  • Identical by descent

Question 33

Question
The two siblings possess alleles that are...
Image:
I.B (image/jpg)
Answer
  • Identical by state
  • Identical by descent

Question 34

Question
What is used in Non-Parametric Linkage Analysis to indicate linkage?
Answer
  • Deviation from normal ratios of sibling inheritence
  • Deviation for normal ratio's of phenotype expression
  • Deviation from normal allelic ratios

Question 35

Question
Chron's disease occurs in 1-3/10,000 people
Answer
  • True
  • False
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