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MCB1 Block 4 > Recombination, Linkage & Gene mapping > Flashcards

Recombination, Linkage & Gene mapping Flashcards

1
Q

What are the two approaches to identifying genes?

A

Functional cloning & positional cloning

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2
Q

how does functional cloning identify genes

A

identify a gene by it’s product

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3
Q

what do you have to know in order to successfully do functional cloning

A

have some knowledge of its function

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4
Q

how does positional cloning identify a gene

A

by its location

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5
Q

Positional cloning uses markers to do what

A

to look for association of marker with phenotype which will show the genotype

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6
Q

if you see linkage b/w marker and disease you know what

A

disease must be in that area

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7
Q

is positional cloning family specific?

A

yes

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8
Q

when is positional cloning easier to use

A

mendelian disorders with predictable inheritance patterns

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9
Q

mapping the disease allele to specific marker position is what

A

positional cloning

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10
Q

what is used to find gene for achondorplasia

A

positional cloning

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11
Q

when does crossing over occur

A

prophase 1

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12
Q

there is at least how many recombinations per homologous chromosome pair

A

one

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13
Q

what is mendel’s second law

A

genes segregate independently of each other

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14
Q

for each gene, there’s two alleles, each one from where?

A

a different parent

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15
Q

what is linkage

A

the tendency for two different oci to be transmitted together as an intact unit through meiosis

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16
Q

linkage is opposing what?

A

mendel’s second law

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17
Q

mendel’s law is only true if what

A

linkage doesn’t occur

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18
Q

when is linkage analysis used

A

mapping genes

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19
Q

if there are parental types did recombination happen

A

no

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20
Q

if there are nonparental types did recombinatino happen

A

yes

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21
Q

what is used to determine how often recombination happens b/w the marker and gene

A

estimate of distance

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22
Q

how much recombination frequency is the theoretical maximum

A

50%

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23
Q

what is chance offspring will have parental type

A

50%

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24
Q

what is chance offspring will have nonparental type

A

50%

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25
Q

genes far apart on the same chromosome will exhibit how much recombination

A

50%

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26
Q

if there is 50% recombination is there linkage

A

no

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27
Q

if two markers are close together what happens to probability that there will be recombination

A

less chance of recombination

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28
Q

if two markers are close together what happens to probability that there will be recombination

A

less chance of recombination

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29
Q

what is genetic distance

A

estimate of physical distance measured by frequency of recombination b/w two loci

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30
Q

what is physical distance

A

the actual distance b/w two loci measured in basepairs

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31
Q

what happens to loci that are tightly linked

A

they will most likely stay together through multiple generations

32
Q

there is an average of how many recombinations on homologous chromosmes in humans

A

2

33
Q

1cM = how many base pair?

A

1.1 million basepair

34
Q

is recombination random?

A

no it is non-random, different chromosomes have recombination at different frequencies

35
Q

describe the diffrence b/w female and male recombination rate

A

females have higher recombinatino rate and so have larger genetic maps

36
Q

males and females have different genetic maps, why?

A

females have higher recombination rate

37
Q

are genetic maps in line with physical map?

A

no, just rough estimate of each other

38
Q

why is there more recomination in females?

A

b/c females oocytes arrest in prophase 1 (which is where recombination happens) for years

39
Q

what is minimum number of samples needed for dominant disease

A

10

40
Q

what is minimum number of samples needed for recessive disease

A

20

41
Q

are larger or smaller families more informative

A

larger

42
Q

In the positional cloning workflow, what steps are taken care of b/c of genome project

A

second and third steps: obtaining clones of all DNA in region & identifying all the genes in the region

43
Q

what do we still have to do in positional cloning workflow

A

still have to define candidate region, prioritize them for mutation screening, test candidate genes for mutations n affected people

44
Q

What does DSH stand for?

A

Dyschromatosis Symmetrica Hereditaria

45
Q

What is MOI of DSH

A

AD

46
Q

how do we assess how reliable our linkage calculations are

A

use lod score

47
Q

what does lod stand for

A

log of the odds

48
Q

what does a lod score compare

A

the probabliity of obtaining our data if the 2 loci are linked at theta value versus the probablitiy that they are not linked

49
Q

theta value tells you waht

A

distance

50
Q

lod value tells you what

A

how reliable the distance is from theta value

51
Q

if Z > 0 (positive) what does that mean

A

evidence for linkage

52
Q

If Z < 0 (negative number) what does that mean

A

evidence against lnkage

53
Q

What does it mean if Z > (or equal to) 3

A

statistically reliable evidence for linkage

54
Q

what p value does Z>3 mean

A

p value = .05

55
Q

If Z < -2 what does that mean

A

statistically reliable evidence against linkage

56
Q

what p value does Z < -2 mean

A

p value = .05

57
Q

if Z is b/w -2 and 3 what does that mean

A

evidence is inconvlusive

58
Q

what is the actual theta value when looking at a graph

A

pick the peak of the curve

59
Q

.1 theta is how many cM

A

10

60
Q

when analyzig statistically reliable Z scores, which one is closest to disease gene

A

the one with smallest theta value

61
Q

what is used to narrow down linkage analysis

A

haplotype analysis

62
Q

In the DSH disease where was the mutation they found (what gene?)

A

DSRAD gene

63
Q

function of protein can be looked at by doing what

A

sequencing among evolution - so seeing if sequence of gene that makes protein is conserved throughout different species

64
Q

what types of mutations are causing DSH

A

null - loss of function

65
Q

If DSH has loss of function leading to disease what is causing it

A

haploinsufficiency

66
Q

if a chromosomal translcoation disrupts a gene it results in what

A

same phenotype as point mutation

67
Q

can you see breakpoint karyotype

A

yes you can see but can’t identify where it is

68
Q

what method woudl you use to identify where breakpoint is

A

FISH

69
Q

when you see homozygosity coming from same ancestral origin what is it

A

autozygosity

70
Q

In autozygosity mapping if it is black what does it mean

A

homozygosity for the snps

71
Q

what is exome sequecing

A

method for specifcially the coding regions of all genes

72
Q

what allows identification of disease genes when linkage isn’t present

A

exome sequencing

73
Q

symptoms: distinctive faces, cardiac & skeeltal abonomalities, immunological problems, mental retardation, is what disease

A

kabuki syndrome

74
Q

what disease was found using exome sequencing

A

kabuki syndrome

75
Q

they think that kabuki syndrome is AD, what would cause it to be dominant

A

haploinsufficiency

MCB1 Block 4 (17 decks)

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