455509
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Quiz von gina_evans0312, aktualisiert more than 1 year ago
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Erstellt von gina_evans0312
vor mehr als 10 Jahre
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Frage 1
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Linkage mapping- determining the distance between & order of genes
Antworten
- True
- False
Frage 2
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Genetic maps are measured in bp, physical maps in cM
Antworten
- True
- False
Frage 3
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Linkage _ reflects gene proximity
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Directly
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Indirectly
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Loosely
Frage 4
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Genes on different chromosomes link dependently
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- True
- False
Frage 5
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What are the two definitions of haplotype?
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A set of genes on the same chromosome
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The genes contained in two homologous chromosomes
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A set of genetic determinants
Frage 6
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The recombination frequency
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The location of the SNP marker
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The first infected generation
Frage 7
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Name two resons why large families are required for linkage studies in humans (for an accurate result)
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Human families are small
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Humans cannot be bred just to investigate phenotypes
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Human genes are highly conserved
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Human gene markers are rare
Frage 8
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If 15% of meioses in a study show crossover, what is the recombination frequency?
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15%
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30%
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85%
Frage 9
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Loci with a recombination factor of 50% have the same chance of being separated as loci on different chromosomes
Antworten
- True
- False
Frage 10
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Name the two steps required for functional mapping
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Find what haplotype those with the mutations share
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Find what markers those with the mutations share
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Look for markers close to it
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Look for genes close to it
Frage 11
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What is the 'Critical Region'
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There area containing the mutated gene
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The area containing the related marker
Frage 12
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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)
Antworten
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Between B & C
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Between A & D
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Between B & D
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Between A & C
Frage 13
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Assuming a person is heterozygous, what do we need to know once markers for the alleles have been identified?
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Which marker is segregated with which allele i.e A1D A2d, or A1d A2D
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Which allele is diseased i.e. D or d
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Which marker has bonded correctly
Frage 14
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What is the difference between phase known and phase unknown?
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In phase known, we know which allele contains the diease
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In phase known, we have the genotype of the grandparents
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In phase known, we don't know how many recombinants there are
Frage 15
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Fewer recombinants mean the hypothesis is more likely
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- True
- False
Frage 16
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Assume 12% of people are recombinants - how many cM are the genes?
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24cM
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12cM
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88cM
Frage 17
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Name 3 things that can affect the recombination process
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Crossover hotspots
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Crossovers are common near centromeres
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Crossovers are rarer near centromeres
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Oocytes crossover more frequently than sperm
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Sperm crossover more frequently than oocytes
Frage 18
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LOD - Log of the Odds Ratio
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- True
- False
Frage 19
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When using LOD, what are the two hypothesis?
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There is a given (previously calculated) linkage frequency
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There is null (50% or more) linkage frequency
Frage 20
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Assuming 6 recombinants out of 10 children what is the equation for the statistical likelihood of 6 recombinents?
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[(1-θ)^6] x θ
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[(1+θ)/6] x θ
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[6 x θ] x θ
Frage 21
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The equation for NO linkage = [(1-θ)^no of children in study]
Antworten
- True
- False
Frage 22
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A = Liklihood of linkage
B = Liklihood of no linkage
What is the LOD full equation?
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Log10 (A/B)
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Log10 (B/A)
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Log10 (A-B)
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Log10 (A x B)
Frage 23
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-2 is considered significant, 3 is considered no linkage
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- True
- False
Frage 24
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It is thought that 4 of 13 children are recombinants- calculate the LOD and see if this is significant
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Yes
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No
Frage 25
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LOD scores are not additive
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- True
- False
Frage 26
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Linkage analysis in complex disorders is much more difficult
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- True
- False
Frage 27
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The first step of mapping complex disease genes is demonstrating how important the genes are on heritability
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- True
- False
Frage 28
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How do you gain estimates of heritability in complex disorders?
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Look at mono/dizygotic twins
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Look at siblings
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Look at familial generations
Frage 29
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Why is linkage analysis so much more difficult with complex disorders?
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We don't know penetrance
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We don't know how many genes are involved
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We don't know the relative effect of each gene
Frage 30
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Non-parametric linkage analysis typically uses what?
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Affected twins
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Affected sibling pairs
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Affected spouses
Frage 31
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What is true of NPL?
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No assumptions of no of loci/environmental role
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Not concerned about penetrence
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Assumed diseased individuals have alleles in common
Frage 32
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Identical by state
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Identical by descent
Frage 33
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Identical by state
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Identical by descent
Frage 34
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What is used in Non-Parametric Linkage Analysis to indicate linkage?
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Deviation from normal ratios of sibling inheritence
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Deviation for normal ratio's of phenotype expression
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Deviation from normal allelic ratios
Frage 35
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Chron's disease occurs in 1-3/10,000 people
Antworten
- True
- False
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