455509
Descripción
Test por gina_evans0312, actualizado hace más de 1 año
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Creado por gina_evans0312
hace alrededor de 11 años
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Pregunta 1
Pregunta
Linkage mapping- determining the distance between & order of genes
Respuesta
- True
- False
Pregunta 2
Pregunta
Genetic maps are measured in bp, physical maps in cM
Respuesta
- True
- False
Pregunta 3
Pregunta
Linkage _ reflects gene proximity
Respuesta
-
Directly
-
Indirectly
-
Loosely
Pregunta 4
Pregunta
Genes on different chromosomes link dependently
Respuesta
- True
- False
Pregunta 5
Pregunta
What are the two definitions of haplotype?
Respuesta
-
A set of genes on the same chromosome
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The genes contained in two homologous chromosomes
-
A set of genetic determinants
Pregunta 6
Respuesta
-
The recombination frequency
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The location of the SNP marker
-
The first infected generation
Pregunta 7
Pregunta
Name two resons why large families are required for linkage studies in humans (for an accurate result)
Respuesta
-
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
Pregunta 8
Pregunta
If 15% of meioses in a study show crossover, what is the recombination frequency?
Respuesta
-
15%
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30%
-
85%
Pregunta 9
Pregunta
Loci with a recombination factor of 50% have the same chance of being separated as loci on different chromosomes
Respuesta
- True
- False
Pregunta 10
Pregunta
Name the two steps required for functional mapping
Respuesta
-
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
Pregunta 11
Pregunta
What is the 'Critical Region'
Respuesta
-
There area containing the mutated gene
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The area containing the related marker
Pregunta 12
Pregunta
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)
Respuesta
-
Between B & C
-
Between A & D
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Between B & D
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Between A & C
Pregunta 13
Pregunta
Assuming a person is heterozygous, what do we need to know once markers for the alleles have been identified?
Respuesta
-
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
Pregunta 14
Pregunta
What is the difference between phase known and phase unknown?
Respuesta
-
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
Pregunta 15
Pregunta
Fewer recombinants mean the hypothesis is more likely
Respuesta
- True
- False
Pregunta 16
Pregunta
Assume 12% of people are recombinants - how many cM are the genes?
Respuesta
-
24cM
-
12cM
-
88cM
Pregunta 17
Pregunta
Name 3 things that can affect the recombination process
Respuesta
-
Crossover hotspots
-
Crossovers are common near centromeres
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Crossovers are rarer near centromeres
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Oocytes crossover more frequently than sperm
-
Sperm crossover more frequently than oocytes
Pregunta 18
Pregunta
LOD - Log of the Odds Ratio
Respuesta
- True
- False
Pregunta 19
Pregunta
When using LOD, what are the two hypothesis?
Respuesta
-
There is a given (previously calculated) linkage frequency
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There is null (50% or more) linkage frequency
Pregunta 20
Pregunta
Assuming 6 recombinants out of 10 children what is the equation for the statistical likelihood of 6 recombinents?
Respuesta
-
[(1-θ)^6] x θ
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[(1+θ)/6] x θ
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[6 x θ] x θ
Pregunta 21
Pregunta
The equation for NO linkage = [(1-θ)^no of children in study]
Respuesta
- True
- False
Pregunta 22
Pregunta
A = Liklihood of linkage
B = Liklihood of no linkage
What is the LOD full equation?
Respuesta
-
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)
Pregunta 23
Pregunta
-2 is considered significant, 3 is considered no linkage
Respuesta
- True
- False
Pregunta 24
Pregunta
It is thought that 4 of 13 children are recombinants- calculate the LOD and see if this is significant
Respuesta
-
Yes
-
No
Pregunta 25
Pregunta
LOD scores are not additive
Respuesta
- True
- False
Pregunta 26
Pregunta
Linkage analysis in complex disorders is much more difficult
Respuesta
- True
- False
Pregunta 27
Pregunta
The first step of mapping complex disease genes is demonstrating how important the genes are on heritability
Respuesta
- True
- False
Pregunta 28
Pregunta
How do you gain estimates of heritability in complex disorders?
Respuesta
-
Look at mono/dizygotic twins
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Look at siblings
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Look at familial generations
Pregunta 29
Pregunta
Why is linkage analysis so much more difficult with complex disorders?
Respuesta
-
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
Pregunta 30
Pregunta
Non-parametric linkage analysis typically uses what?
Respuesta
-
Affected twins
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Affected sibling pairs
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Affected spouses
Pregunta 31
Pregunta
What is true of NPL?
Respuesta
-
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
Pregunta 32
Respuesta
-
Identical by state
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Identical by descent
Pregunta 33
Respuesta
-
Identical by state
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Identical by descent
Pregunta 34
Pregunta
What is used in Non-Parametric Linkage Analysis to indicate linkage?
Respuesta
-
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
Pregunta 35
Pregunta
Chron's disease occurs in 1-3/10,000 people
Respuesta
- True
- False
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