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NS374—Pathophysiology > Genetics > Flashcards

Genetics Flashcards

(81 cards)

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1
Q

gamete cells are ___loid and somatic cells are ___loid

A

haploid

diploid

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2
Q

totipotent cells…

A

can differentiate to become any human cell

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3
Q

DNA found in the…

A

nucleolus

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4
Q

pyrimidines

A

thymine

cytosine

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5
Q

purines

A

adenine

guanine

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6
Q

3 base pairs

A

codon

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7
Q

autosomes

A

first 22 of 23 pairs in males & females

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8
Q

sex chromosomes

A

remaining 23rd pair of chromosomes - XX (homologous) in females, XY (nonhomologous) in males

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9
Q

mutation

A

any inherited alteration of genetic material

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10
Q

silent mutation

A

has no effect, codon still codes for same amino acid

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11
Q

missence

A

mutation that causes replacement with an incorrect amino acid - changes protein itself

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12
Q

nonsense

A

premature stop - protein is unfinished

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13
Q

frameshift

A

mutation that involves deletion or insertion of a base pair - 2 or 4 in a codon rather than 3

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14
Q

________ mutations have the worst outcomes for the organism

A

frameshift

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15
Q

mutagen

A

any agent known to increase the frequency of mutations

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16
Q

from __ to __ weeks, the fetus is not susceptible to teratogens

A

0-2

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17
Q

period in which fetus is most susceptible to teratogens

A

2-8 weeks, embryonic stage

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18
Q

locus

A

position of a gene along a chromosome

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19
Q

allele

A

different form of a particular gene at a given locus

we have one from each parent

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20
Q

polymorphism

A

locus that has 2+ alleles that occur with appreciable frequency

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21
Q

homozygous

A

loci on a pair of chromosomes have identical genes

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22
Q

heterozygous

A

loci on a pair of chromosomes have different genes

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23
Q

genotype

A

composition of genes at a given locus

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24
Q

phenotype

A

outward appearance of genetics

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25
penetrance
percentage of individuals with a certain genotype who also express the expected phenotype
26
Autosomal dominance causes __% penetrance
100%
27
incomplete penetrance
individual who has a gene for a disease but does not express it
28
expressivity
extent of variation in phenotype associated with a certain genotype
29
examples of diseases with varying expressivity
hemophilia A | neurofibramatosis
30
how we depict a family affected by a genetic disease
pedigree
31
consanguinity & effects
incest | increases risk for genetic defects
32
recurrence risk
probability that an individual will develop a genetic disease
33
3 types of genetic disorders
single-gene chromosomal multifactorial
34
if you have a gene, you will have disorder
autosomal dominant inheritance
35
difference between sexes r/t autosomal dominant
no difference
36
generational skipping c autosomal dominant?
no
37
most common parent configuration for people c autosomal dominant disorders
normal parent + affected heterozygous parent
38
requires both parents to transmit gene
autosomal recessive inheritance
39
Heterozygous carriers can pass disease, but do not express it
autosomal recessive
40
difference between sexes r/t autosomal recessive
no difference
41
generational skipping c autosomal recessive?
yes
42
recurrence risk for autosomal recessive
25%
43
why are sex linked disorders seen more in men?
Y does not contain all of same DNA as X - no “backup allele” if something is wrong on X chromosome
44
Affected father does not transmit disease to _____, but will always transmit it to _____
son | daughter
45
sons of female carriers have __% risk of being affected
50
46
duchenne muscular dystrophy is an x-linked (dominant/recessive) disorder affecting mainly (males/females)
recessive | males
47
any abnormalities to chromosomes
chromosomal aberrations
48
euploid
has a multiple of 23 chromosomes
49
polyploidy
euploid cells with >46 chromosomes
50
triploidy
69 pairs
51
tetraploidy
92 pairs
52
aneuploidy
somatic cell not containing a multiple of 23 pairs of chromosomes
53
trisomy
contains 3 copies of 1 chromosome
54
trisomy 21
down syndrome
55
monosomy
contains only 1 copy of any chromosome
56
lethal aneuploidy
monosomy
57
usual cause of aneuploidy
nondisjunction
58
nondisjunction
failure of homologous chromosomes or sister chromatids to separate during mitosis or meiosis
59
partial trisomy
an extra portion of a chromosome is present in each cell
60
down syndrome risk increases c maternal age >35 because
rate of nondisjuction increases
61
down syndrome characteristics
Mentally challenged, low nasal bridge, epicanthal folds, protruding tongue, low-set ears, poor muscle tone
62
chromosomal mosaic
Somebody who has part of a genetic defect on part of the cells in their body
63
Sex chromosome aneuploidy
variation of XX or XY
64
XXX
trisomy x
65
symptoms of trisomy x
sterility, menstrual irregularity, and/or intellectual disability
66
X
turner syndrome
67
symptoms of turner syndrome
underdeveloped ovaries, sterility, short stature, webbing of neck, edema, underdeveloped breasts, wide nipples
68
XXY, XXXY
Klinefelter syndrome
69
symptoms of Klinefelter syndrome
male appearance, may develop female-like breasts, small genitals, sterility, sparse body hair, long limbs
70
Deletion of short arm of chromosome 5
Cri-du-chat syndrome
71
Cri-du-chat characteristics
microcephaly, round face, low-set ears | Severe cognitive delays & developmental deficits
72
fragile site along long arm of X chromosome
fragile X syndrome
73
fragile x characteristics
Intellectual disability, broad foreahead, elongated face, large ears, crossed eyes, highly arched palette, etc Higher incidence in males
74
disorders most difficult to predict
multifactorial
75
ex. of a multifactorial disorder affecting males more than females
pyloric stenosis
76
epigenetics
Study of biological mechanisms that switch genes on and off
77
3 epigenetic mechanisms
DNA methylation histone modification RNA-based mechanisms
78
DNA methylation - what is it, what does it do
attachment of methyl group to cytosine Silences genes Aberrant methylation can lead to misregulation of oncogenes & tumor-suppressor genes`
79
"spools" of DNA
histones
80
histone de/acetylation
addition or removal of acetyl group
81
RNA-based mechanisms involve _____ RNA and _____RNA
noncoding | micro

NS374—Pathophysiology (18 decks)

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