Human Genetic Diseases Flashcards Preview

Developmental Genetics > Human Genetic Diseases > Flashcards

Flashcards in Human Genetic Diseases Deck (41):
1

How many genes cause or contribute to disease?

Out of 23,000, 4,000 contribute to disease.

2

What did linkage analysis show for FMF??

Pras et al. 1992

3

LOF mutations occur through loss of amino acids rather than absence of the gene.
True or False?

True.

4

What are the steps to positional cloning?

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5

How do you initially establish gene location for linkage analysis?

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6

How do you establish the physical map location in order to identify the gene in positional cloning?

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7

Why is linkage disequilibrium a problem for very rare disorders?

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8

Explain the theory behind linkage equilibrium and what happens if there is mutation favouring one loci.

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9

What are disadvantages with linkage disequilibrium studies?

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10

How do you figure out which gene and mutation is responsible for the disease in adjacent genes?

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11

What type of experiment aid in the functional analysis?

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12

What is an advantage of transgenics in rescue experiments?

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13

What is another approach to the identification of the genetic interval associated with HGD.

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14

Define autozygosity mapping and describe the process.

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15

What is FMF?

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16

What are characteristics and features of FMF?

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17

Define prophylatic.

Intended to prevent disease.

18

What is the FMF gene frequency and carrier rate?

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19

In terms of genetic mapping, linkage analysis excluded which genetic candidates.

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20

What type of mutation, hotspot or rare, is more likely to have caused FMF?

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21

Pras et al. 1992 Linkage analysis, What did they show?

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22

What does it mean to have higher LOD scores?

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23

What did Levy et al 1992 find?

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24

Where does the critical region for FMF sit? Does it sit within multiple genes or a single gene?

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25

What type of mutations are consistent with the nature of FMF?.

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26

FMF causing mutations are in what gene?

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27

What are the likely distribution of two main FMF mutations?

- M694V,
- V725A.

28

How has the genetics of FMF and other related diseases contributed to the rational treatments of autoinflammatory diseases?

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29

Process of activation of IL1beta activating inflammation.

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30

What is anakinra?

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31

What is anakinra effective in treating?

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32

What is the function of the NLRP3 inflammsome?

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33

What is rilonacept?

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34

What is the strategy for whole exome sequencing for Early Onset Stroke?

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35

What is the limitation for exome sequencing?

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36

Zhou et al. 1992.
True or false.
Whole exome sequencing was used to identify the candidate disease gene and functional analysis confirmed that the mutated gene was responsible for the disease.

true.

37

Zhou et al. 1992
Background.

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38

Zhou et al. 1992
Methods.

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39

Zhou et al. 1992
Results

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40

Zhou et al. 1992.
Conclusions.

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41

What is the possible mechanism for Early Onset Stroke and Vasculopathology as a result of ADA2 mutations?

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