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Flashcards in TBL 3 Deck (25)
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1
Q

A process of identifying a gene by its product

A

Functional cloning

2
Q

A process to identify a gene by its location

A

Positional cloning (uses linkage of markers to disease alleles)

3
Q

When does crossing over happen?

A

Prophase I

4
Q

What is the tendency of loci to be transmitted together as a unit through meiosis (counter to Mendels law)

A

Linkage

5
Q

In linkage analysis, distance is estimated by measuring:

A

Number of recombinations between marker and gene

6
Q

What is the theoretical maximum recombination frequency?

A

50%

7
Q

If gamates possess the same markers as the parent we consider them:

A

Parental, non-recombinant

8
Q

If the recombination frequency is 5-50%, the genes/markers must be:

A

Unlinked

9
Q

If the recombination rate is less than %5, the genes must be:

A

Linked

10
Q

The closer together the loci, the ____ likely a recombination will occur between them

A

Less

11
Q

Theta is equal to:

A

Number of recombinants/ total progeny

12
Q

0.01 theta is equal to:

A

1 centiMorgan (cM) = 1% recombination

13
Q

1cM is roughly equal to how many base pairs?

A

1.1 million bp’s

14
Q

Why do females have higher recombination rates?

A

Long ass gamatogenesis

15
Q

Why are recombination hot spots important?

A

Genes will look like they are farther apart than they are

16
Q

How many informative meiosis samples are needed for dominant gene mapping? Recessive?

A

10, 20

17
Q

What is the mode of inheritance for Dyschromatosis Symmetrica Hereditaria (DSH)

A

AD

18
Q

How do we compare the probability of obtaining our loci linkage data (theta) vs the probability that they are not linked (theta > 0)

A

Lod score

19
Q

If the Lod score (Z) is >0, the evidence does/does not support linkage

A

Does

20
Q

If Z < 0, there is evidence ____ linkage

A

Against

21
Q

If Z < -2, there is statistically reliable evidence _____ linkage

A

Against

22
Q

If Z > 3 there is statistically reliable evidence _____ linkage

A

Supporting

23
Q

What is a haplotype?

A

Collection of alleles on a chromosome

24
Q

What are the three possible mechanisms by which a mutation will cause an AD disease?

A

Haploinsufficiency (-> loss of fx)
Gain of function
Dominant negative

25
Q

What process allows sequencing of disease genes when linkage isn’t feasible?

A

Econ sequencing