Gene Hunting and Mapping

Descripción

Year 2 Test sobre Gene Hunting and Mapping, creado por gina_evans0312 el 27/12/2013.
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Test por gina_evans0312, actualizado hace más de 1 año
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Creado por gina_evans0312 hace más de 10 años
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Resumen del Recurso

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
  • The genes contained in two homologous chromosomes
  • A set of genetic determinants

Pregunta 6

Pregunta
What does this symbolise?
Respuesta
  • The recombination frequency
  • 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
  • Humans cannot be bred just to investigate phenotypes
  • Human genes are highly conserved
  • Human gene markers are rare

Pregunta 8

Pregunta
If 15% of meioses in a study show crossover, what is the recombination frequency?
Respuesta
  • 15%
  • 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
  • Find what markers those with the mutations share
  • Look for markers close to it
  • Look for genes close to it

Pregunta 11

Pregunta
What is the 'Critical Region'
Respuesta
  • There area containing the mutated gene
  • 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?
Respuesta
  • Between B & C
  • Between A & D
  • Between B & D
  • 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
  • Which allele is diseased i.e. D or d
  • 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
  • In phase known, we have the genotype of the grandparents
  • 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
  • Crossovers are rarer near centromeres
  • 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
  • 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
  • [(1+θ)/6] x θ
  • [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)
  • Log10 (B/A)
  • Log10 (A-B)
  • 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
  • Look at siblings
  • Look at familial generations

Pregunta 29

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

Pregunta 30

Pregunta
Non-parametric linkage analysis typically uses what?
Respuesta
  • Affected twins
  • Affected sibling pairs
  • Affected spouses

Pregunta 31

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

Pregunta 32

Pregunta
This image shows two siblings that are...?
Respuesta
  • Identical by state
  • Identical by descent

Pregunta 33

Pregunta
The two siblings possess alleles that are...
Respuesta
  • Identical by state
  • 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
  • Deviation for normal ratio's of phenotype expression
  • 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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