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GCC 501 > Lecture 13 > Flashcards

Lecture 13 Flashcards

1
Q

3 group of genetic disease

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2
Q

terminology

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3
Q

locus

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4
Q

single gene disease

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5
Q

the monogenic disease

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6
Q

online Mendelian inheritance in man

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7
Q

disorders with multifactorial inheritance polygenic

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8
Q

monogenic mendelian disorders

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9
Q

numerical abnormalities

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10
Q

numerical chromosome abnromalities

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11
Q

three different patterns of chromosomes can cause Down syndrome

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12
Q

two important conditions caused by anomalies of sex chromosome unumber

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13
Q

two other important autosomal trisomyies

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14
Q

Autosomal dominant disorders

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15
Q

Autosomal dominat vs autosomal recessive

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16
Q

X linked disease

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17
Q

chromosomal aberrations cytogenetic disorders

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18
Q

structural abnormalities

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19
Q

methods to stuy chromomosomes

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20
Q

localization

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21
Q

localization side by side

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22
Q

genomic variation and itis effect

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23
Q

direct to consumer marketong

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24
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GAO

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25
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PERSONAL GENOMICS

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26
Q

STIUDIES ON HUMAN HEIGHT

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27
Q

GENOME WIDE ASSOCIATION STUDIES

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28
Q

TECHONOLGY MAKE IT FEASIBLE

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29
Q

WHAT HAVE GWAS studies found?

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30
Q

traditional issues persist

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31
Q

non snp variants importants

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32
Q

lessons from GWAS for understanding common traits or disease

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33
Q

GWAS limitation

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34
Q

linkage vs association

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35
Q

good gene bad gene

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36
Q

example of good gene

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37
Q

human genetic variation

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38
Q

how much genetic variation does an individula possess?

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39
Q

penetrance of genetic variants

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40
Q

the search for diseae causing variants

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41
Q

identifying the genetic casese of highly penetrants disorders

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42
Q

de novo mutations

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43
Q

look at teh epidemiolog of the disease for clues

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44
Q

identifying a casusative de novo mutation

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45
Q

mendelian disease

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46
Q

mendelian diseae

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47
Q

single nucleotide polymorphisims

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48
Q

measures of association the odds ration

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49
Q

odds ratio example

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50
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51
Q
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GCC 501 (7 decks)

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