Gene Hunting and Mapping

Descrição

Year 2 Quiz sobre Gene Hunting and Mapping, criado por gina_evans0312 em 27-12-2013.
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Quiz por gina_evans0312, atualizado more than 1 year ago
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Criado por gina_evans0312 mais de 10 anos atrás
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Resumo de Recurso

Questão 1

Questão
Linkage mapping- determining the distance between & order of genes
Responda
  • True
  • False

Questão 2

Questão
Genetic maps are measured in bp, physical maps in cM
Responda
  • True
  • False

Questão 3

Questão
Linkage _ reflects gene proximity
Responda
  • Directly
  • Indirectly
  • Loosely

Questão 4

Questão
Genes on different chromosomes link dependently
Responda
  • True
  • False

Questão 5

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

Questão 6

Questão
What does this symbolise?
Responda
  • The recombination frequency
  • The location of the SNP marker
  • The first infected generation

Questão 7

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

Questão 8

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

Questão 9

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

Questão 10

Questão
Name the two steps required for functional mapping
Responda
  • 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

Questão 11

Questão
What is the 'Critical Region'
Responda
  • There area containing the mutated gene
  • The area containing the related marker

Questão 12

Questão
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?
Responda
  • Between B & C
  • Between A & D
  • Between B & D
  • Between A & C

Questão 13

Questão
Assuming a person is heterozygous, what do we need to know once markers for the alleles have been identified?
Responda
  • 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

Questão 14

Questão
What is the difference between phase known and phase unknown?
Responda
  • 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

Questão 15

Questão
Fewer recombinants mean the hypothesis is more likely
Responda
  • True
  • False

Questão 16

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

Questão 17

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

Questão 18

Questão
LOD - Log of the Odds Ratio
Responda
  • True
  • False

Questão 19

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

Questão 20

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

Questão 21

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

Questão 22

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

Questão 23

Questão
-2 is considered significant, 3 is considered no linkage
Responda
  • True
  • False

Questão 24

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

Questão 25

Questão
LOD scores are not additive
Responda
  • True
  • False

Questão 26

Questão
Linkage analysis in complex disorders is much more difficult
Responda
  • True
  • False

Questão 27

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

Questão 28

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

Questão 29

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

Questão 30

Questão
Non-parametric linkage analysis typically uses what?
Responda
  • Affected twins
  • Affected sibling pairs
  • Affected spouses

Questão 31

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

Questão 32

Questão
This image shows two siblings that are...?
Responda
  • Identical by state
  • Identical by descent

Questão 33

Questão
The two siblings possess alleles that are...
Responda
  • Identical by state
  • Identical by descent

Questão 34

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

Questão 35

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

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