Mutation Mechanisms in Human Genetic Disease Flashcards Preview

Developmental Genetics > Mutation Mechanisms in Human Genetic Disease > Flashcards

Flashcards in Mutation Mechanisms in Human Genetic Disease Deck (53):
1

In terms of simple mutations and genotype, what are the general relationships between type of mutation and mode of inheritance?

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2

What is an example of genotype and phenotype relationship?

- Dystrophin gene.

3

What is the difference between Becker Muscular Dystrophy and Duchenne Muscular Dystrophy?

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4

What are some complex mutation mechanisms? Give an example for each.

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5

What is the function of PKD?

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6

What is the mutation mechanism behind Polycystic kidney disease?

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7

What is the PKD progression?

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8

Define duplicons.

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9

What type of de novo mutations occur in duplicons?

- Deletions, duplications, inversions.

10

Region-specific low copy repeat elements have been identified to flank regions susceptible to genomic disorders, what are the three distinct groups of these elements? Give examples for each group.

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11

Give four examples of large repeat, simple duplicon genomic disorders.

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12

Features of X-linked Ichthyosis and S232 elements.

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13

Features of CMTA-REP & two distinct peripheral neuropathies.

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14

What are the gene dosage effects for PMP22 gene?

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15

Features of Severe hemophilia A and int22h elements.

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16

Where are the repeat sequences located in Severe Hemophilia A.

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17

Draw an example of DNA inversion of duplicons.

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18

Features of Neurofibromatosis and germline deletions of 17q11.2.

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19

What are common properties of complex duplicon genomic disorders?

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20

What are four examples of complex duplicon genomic disorders?

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21

Features of Williams Syndrome.

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22

Features of Smith Magenis Syndrome (SMS).

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23

Features of DiGeorge, Velocardiofacial, Cat-eye and der22 syndromes.

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24

Features of Prada-Willi and Angelman Syndromes
(END repeats and 15q11-15q13 deletions).

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25

What are the recombination mechanisms for duplicon-mediated copy number changes?

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26

Features of Monosomy 1p36 Syndrome.

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27

What are terminal deletions associated with?

Inverted duplications at the end of chromosomes.

28

How can cancer cells develop drug resistance?

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29

Mechanism of chromosomal terminal deletion leading to germ-line mutation???

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30

What is the association between the extent of deletion with observed symptoms in monosome 1p36 syndrome?

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31

What is copy number variation often associated with?

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32

What are the genetic contributions to autism? (Concordance rates between twins).

Monozygotic and Dizygous twins.

33

How did they map autism rick loci? What were the results?

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34

What did Sebat et al, 2007 conclude?

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35

What are the methods for detecting CNV?

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36

Define imprinting disorders.

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37

What is an example of imprinting disorders..

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38

Features of Prader-Willi Syndrome and Angelman Syndrome.

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39

What are the diagnostic methologies in PW and A syndromes?

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40

What can both disorders result from?

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41

Define comparative genome hybridisation.

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42

What are the two mechanisms for germ-line aneuploidy?

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43

Define aneuploidy.

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44

What are the possible outcomes for aneuploid gametes?

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45

Process of uniparental disomy occuring via correction?

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46

What is an example of a monosomic conceptus disorder?

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47

Describe methylation specific PCR?

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48

What are the imprinted genes in PWS and AS?

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49

Molecular defects in PWS and AS (Stats).

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50

What are the molecular defects in AS.

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51

What are the molecular defects in PWS.

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52

PWS is due to the loss of..

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53

AS is due to the loss of..

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