Lecture 13 Flashcards
(51 cards)
1
Q
3 group of genetic disease
A
2
Q
terminology
A
3
Q
locus
A
4
Q
single gene disease
A
5
Q
the monogenic disease
A
6
Q
online Mendelian inheritance in man
A
7
Q
disorders with multifactorial inheritance polygenic
A
8
Q
monogenic mendelian disorders
A
9
Q
numerical abnormalities
A
10
Q
numerical chromosome abnromalities
A
11
Q
three different patterns of chromosomes can cause Down syndrome
A
12
Q
two important conditions caused by anomalies of sex chromosome unumber
A
13
Q
two other important autosomal trisomyies
A
14
Q
Autosomal dominant disorders
A
15
Q
Autosomal dominat vs autosomal recessive
A
16
Q
X linked disease
A
17
Q
chromosomal aberrations cytogenetic disorders
A
18
Q
structural abnormalities
A
19
Q
methods to stuy chromomosomes
A
20
Q
localization
A
21
Q
localization side by side
A
22
Q
genomic variation and itis effect
A
23
Q
direct to consumer marketong
A
24
Q
GAO
A
25
PERSONAL GENOMICS
26
STIUDIES ON HUMAN HEIGHT
27
GENOME WIDE ASSOCIATION STUDIES
28
TECHONOLGY MAKE IT FEASIBLE
29
WHAT HAVE GWAS studies found?
30
traditional issues persist
31
non snp variants importants
32
lessons from GWAS for understanding common traits or disease
33
GWAS limitation
34
linkage vs association
35
good gene bad gene
36
example of good gene
37
human genetic variation
38
how much genetic variation does an individula possess?
39
penetrance of genetic variants
40
the search for diseae causing variants
41
identifying the genetic casese of highly penetrants disorders
42
de novo mutations
43
look at teh epidemiolog of the disease for clues
44
identifying a casusative de novo mutation
45
mendelian disease
46
mendelian diseae
47
single nucleotide polymorphisims
48
measures of association the odds ration
49
odds ratio example
50
51
