Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

PAS 753 (Molecular Pathophysiology) > Introduction and Genetics > Flashcards

Introduction and Genetics Flashcards

1
Q

Pathophyisology

A

derangement of function seen in disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Disease

A

a condition with signs or symptoms that is linked to an increased risk of future death or disability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

symptom

A

a subjective indication of a disease reported by a patient

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

sign

A

an objectively observed phenomena associated with disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

three examples of signs

A
  • blood work
  • x rays
  • physical examination
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

three examples of symptoms

A
  • nausea
  • pain
  • fatigue
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

genetics

A

the study of heredity and its variations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

heredity

A

the passing of traits to offspring from parents or ancestors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

gene

A

a molecular unit of inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what are the four DNA nucleotides

A
  • adenine
  • guanine
  • cytosine
  • thymine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

central dogma of genetics (4)

A
  • DNA unzips to form a template for mRNA
  • mRNA leaves the nucleus and proceeds to ribosomes
  • tRNA carries amino acids to ribosomes
  • proteins are constructed using mRNA as a template
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

exons

A

segments of DNA which code for mRNA used in protein synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

introns

A

segments of DNA which code for RNA but not protein synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

genome

A

the entire DNA sequence of an indvidual

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

exome

A

the 1.5-2% of which are exons that encode proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what determines genetic diversity between individual and species

A

the non-coding genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what percent of disease causing mutations are found in the exome? the non-exome?

A
  • 60-65%
  • 35-40%
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what are the two parts that make up condense chromatin

A

DNA + proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what are the four functions of chromosomes

A
  • packaging
  • protection
  • progeny
  • programming
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

why are chromosomes important for packaging

A

the coiling of the chromosome allows for 2m of chromatin to fit in the nucleus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

two types of chromosome proteins

A
  • Histone
  • Non-histone
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

what is the function of histone proteins

A

encourages coiling and supercoiling of chromatin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

how many types of histone proteins are there

A

5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

what do non-histone proteins do

A

regulate transcription, replication, repair, and recombination of DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

what is the difference between an autosome and sex chromosome

A

sex chromosomes determine gender and sex linked traits, autosomes are any other chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

what are the two arms of chromosomes called

A

p and q arms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

what is the difference between the p and q arms of a chromosome

A

p is short, q is long

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

how many chromosomes do humans normally have

A

46, 23 pairs, one from each parent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

where else can DNA normally be found in the cell

A

mitochondria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

what is the composition of the mitochondrial genome

A

circular DNA consisting of 13 protein genes and 24 RNA only genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

from what parent does an offspring receive mitochondrial DNA

A

the mother

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

what three types of cells undergo mitosis

A
  • somatic
  • germ
  • neoplastic
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

what cells undergo meiosis

A

specialized cells from the germ line

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

what are the two distinctions of meiosis from mitosis

A
  • crossing over occurs in metaphase I
  • the second meiotic division produces haploid cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

what is the male cell that undergoes meiosis? how many spermatozoa are produced

A
  • primary spermatocyte
  • 4 spermatozoa
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

what female cell undergoes meiosis? what is the product?

A
  • primary oocyte
  • 1 matiure ovum and 2 polar bodies
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q
A

A) cumulus oopharus

B) zona pellucida

C) chromosomes

D) first polar body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

cytogenetics

A

the branch of genetics concerned with the relationship of chromosome structure and function to disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

polyploidy

A

involving multiple copies of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

aneuploidy

A

a state in which a cell has an abnormal number of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

three examples of abnormalities in chromosome structure

A
  1. deletions
  2. translocations
  3. inversions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

T/F aneuploid cells can be plus or minus chromosomes

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

in general what is worse, having too many chromosomes or not enough?

A

in generally missing chromosomes are more harmful than extra chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

what are two causes of polyploidy

A
  1. polyspermia
  2. failure to expel a polar body
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

are there any clinical risk factors that lead to polyspermia

A

none that have been identified

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

what is a typical cause of aneuploidy in gametes

A

nondisjunction during meoisis I, anaphase lag

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

how often does aneuploidy occur

A

it occurs sporadically, but it happens more often in older oocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

what is the result of nondisjunction

A

two gametes produced are n-1, two gametes are n+1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

how often do spontaneous abortions/miscarriage occur

A

10-20% of clinical pregnancies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

when do more miscarriages happen

A

within the first trimester (14 weeks)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

what is a factor that can increase the incidence of a miscarriage

A

increased age of the mother

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

what is commonly found in 50-60% of spontaneously aborted embryos

A

major cytogenic abnormalities (polyploid, monosomy, trisomy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

in what two circumstances will aneuploidy produce lethal defects

A
  1. autosomal monosomy
  2. monosomy Y
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

what circumstance will allow the survival of an aneuploid embryo

A

monosomy X, results in turners syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Will an embryo with autosomal trisomy produce a viable fetus?

A

usually not, only if the trisomy is in chromosomes 13, 18, or 21

56
Q

turners syndrome

A

an aneuploid X condition, resulting in a single X female

57
Q

what is the phenotype displayed in turner syndrome

A

a short female with a webbed neck and shield chest

58
Q

what are four special problems related to turners syndrome

A
  1. amenorrhea/infertility
  2. kidney malformations
  3. congenital heart disease
  4. aortic arch dilation and rupture
59
Q

what is a sign of turner syndrome commonly seen at birth

A

swollen hands and feet from lymphadema

60
Q

what is a result of trisomy 21

A

down syndrome

61
Q

what is the phenotype displayed in trisomy 21

A

a male or female with slanted eyes, a flat nose, small chin, and protruding tongue

62
Q

what are three risks associated with trisomy 21

A
  1. mental retardation
  2. increased risk of many medical conditions
  3. accelerated aging
63
Q

what are four medical conditions that are more common with down snydrome

A
  1. congenital heart disease
  2. cataracts
  3. seizures
  4. alzheimers
64
Q

what are two other trisomys besides 21 that produce offspring

A

trisomy 18 and trisomy 13

65
Q

what is the result of Trisomy 18

A

severe physical defects and a markedly decreased lifespan

66
Q

what are four conditions present with trisomy 13

A
  1. microcephaly
  2. cleft lip and palate
  3. ambiguous genitalia
  4. shortened lifespan
67
Q

what is another name for trisomy 18? trisomy 13?

A
  • edwards syndrome
  • patau syndrome
68
Q

Robertsonian translocation

A

when the q and p arms of a chromosome become switched to produce a chromosome with two q arms and one with 2 p arms

69
Q
A
70
Q

two main modes of inheritance

A
  1. mendelian
  2. multifactorial
71
Q

mendels laws (4)

A
  1. traits are the results of genes
  2. genes come in pairs, 1 paternal 1 maternal
  3. genes come in variations (alleles)
  4. genes are inherited separately from other genes
72
Q

what are four revisions to mendels laws

A
  1. codominance
  2. incomplete pentrance
  3. genes are on chromosomes
  4. genes can be linked
73
Q

what is an example of incomplete penetrance

A

polydactylism

74
Q

four types of mendelian transmission

A
  1. autosomal dominant
  2. autosomal recessive
  3. sex linked dominant
  4. sex linked recessive
75
Q

when is a situation when heterozygosity is advantageous

A

when having a recessive trait that can be passed on or partially expressed increases survival, like sickle cell disease

76
Q

when would you suspect that a heterozygousity is advantagoes

A

when there are a lot of heterozygotes in the population

77
Q

what can blunt the effect of a mutation in a dominant gene

A

action of other genes

78
Q

what significantly increases the occurance of recessive mutation

A

inbreeding

79
Q

T/F disorders caused by recessive mutations are more common in older parents

A

false, dominant mutations are more likely

80
Q

when would the supposed cause of a genetic disease be an autosomal dominant gene

A
  1. disease doesn’t skip generation
  2. affects males and females equally
  3. 50% chance of transmission
81
Q

when would you suspect an autosomal recessive cause of a disease

A
  1. when it disease can skip generations
  2. both genders equally affected
  3. 25% chance for affected or normal, 50% for carrier
82
Q

when would a disease be suspected to have an x linked dominant cause

A
  1. when an affected female can pass on affliction to both genders
  2. an affected male will always pass the affliction to daughers
83
Q

when would an x linked recessive trait be linked to disease

A
  1. affect fathers produce carrier daughters
  2. affected mothers have a 1/4 chance of a carrier daughter and a 1/4 chance of an afflicted son
84
Q

why are x linked recessive disease more common in males

A

because females have a second X gene that can make up for the mutated X

85
Q

four principles used to analyze pedigree

A
  1. is the disease common or rare
  2. does the gene skip generations
  3. gender ratio of afflicted persons
  4. are there gender limits to transmission
86
Q

what would no male to male transmission indicate

A

the gene is X linked in the father, because males don’t pass their X gene to sons

87
Q

why is the number of afflicted people relevant to pedigree analysis

A

because autosomal diseases are more common than X linked

88
Q

why is generation skipping relevant to pedigree analysis

A

because dominant traits don’t skip generations

89
Q

what is the likelihood of an afflicted child born to parents who both have the same autosomal condition

A

3/4

90
Q

what is the ratio for a dihybrid cross with heterozygous parents

A
  • 9 are normal
  • 3 are homozygous for one gene
  • 3 are homozygous for the other
  • 1 is homozygous for both
91
Q

in what type of genetic disorder does the mother pass on the disease 100% of the time? why

A

mitochondrial disease, because all the mitochondrial DNA is always 100% maternal

92
Q

what are four common symptoms of mitochondrial disease

A
  1. encephalopathy
  2. myopathy
  3. loss of senses
  4. lactic acidosis
93
Q

what would be suspected when there is a genetic disease present with no known family history

A

random mutation

94
Q

what are two synonyms for multifactorial inheritance

A

polygenic inheritance

quantitative inheritance

95
Q

examples of continuous characteristics

A

height

skin color

intelligence

96
Q

what two types of genetic disease are caused by multifactorial traits

A
  1. congenital disease
  2. adult onset disease
97
Q

what increase the risk of having a congenital or adult onset disease

A

the number of affected individuals in the family and how severe the defect is

98
Q

T/F most congential and adult onset genetic disorders have afflicted parents

A

false, most have normal

99
Q

four examples of congenital disorders with multifactorial inheritance

A
  1. cleft palate
  2. congenital heart disease
  3. neural tube deficits
  4. pyloric stenosis
100
Q

for congenital orders, what is the recurrence risk with one affected family member? two?

A

3%

9%

101
Q

3 examples of adult onset multifactorial disease

A
  1. diabetes
  2. cancer
  3. epilepsy
102
Q

how much does the risk of an adult onset disease increase with one relative

A

it doubles

103
Q

what is the jacob-monod model of gene expression

A

a regulator gene upstream controls an operator gene, which in turn controls a structural gene with a repressor protein

the repressor will bind to the operator to block expression, or bind with a substrate if expression is needed

104
Q

T/F non-coding RNA can regulate DNA expression

A

true, they can act as repressors or activators

105
Q

riboswitch RNA

A

an RNA strand that, when not activated, blocks the translation of a protein coding mRNA

activation forces a confirmation change that frees the mRNA for transcription

106
Q

RNA interference

A

a method of silencing gene expression with short RNA strands binding to mRNA

107
Q

two molecules responsible for mRNA interference

A
  1. micro RNA
  2. small interfering RNA
108
Q

what is micro RNA and how does it limit gene expression

A

small segment of non coding RNA

affects the action of mRNA by degradation or blocking ribosomal attachment

109
Q

two general options for gene therapy

A
  1. insert a normal gene into a genome with a mutated gene
  2. turn off transcriptions of bad genes and turn on transcription of good genes
110
Q

how is gene therapy used to treat hemophilia A

A

siRNA directed against anticoagulant antithrombin III reduces the production of antithrombin II, which increases the bloods ability to clot

111
Q

epigenetics

A

heritable changes not cased by changes in DNA sequence

112
Q

three examples of epigenetic regulation

A
  1. genomic imprinting
  2. histone spool regulation
  3. x chromosome inactivation
113
Q

genomic imprinting

A

when one allele for a gene is silenced through methylation

114
Q

how can a recessive genetic disorder be made to look like a dominant disorder

A

with genomic imprinting, if the dominant normal allele has been silenced the mutated recessive allele will be expressed

115
Q

histone control/code

A

the pattern of chemical attachments to histone spools make genes more or less likely to be expressed based on what DNA is wrapped around the histone

116
Q

what does alternative splicing do

A

allows for the production of significantly more proteins to be produced from the same genetic material

117
Q

splicosome

A

the enzyme responsible for splicing out RNA segments

118
Q

what are two examples of organisms with mixed genomes

A
  1. mosaics
  2. chimeras
119
Q

mosaicism

A

two more more cell lines with different genotypes in one organism, descended from one fertilized egg

120
Q

what causes mosaicism

A

a mutation early indevelopment that produces a slightly different genome

121
Q

why is female mosaicism considered normal

A

because one of the females X genes is deactivated randomly, and during development that can give rise to cells with different X genes activated

122
Q

chimera

A

an individual with two or more cell lines derived from different zygotes

123
Q

how common are true chimeras? what is the usual cause

A

extremely rare

abnormal embryo development and fusion of fraternal twins

124
Q

what are three causes of mutation

A
  1. spontaneous DNA regulation
  2. replication errors
  3. environmental factors
125
Q

how frequent to replication errors occur?

after repair mechanisms, how many errors in the genome are actually present

A

1 copy error for every 10 million base pairs

3-4 errors per genome copy

126
Q

what are four examples of enviromental factors that cause mutataions

A
  1. free radicals
  2. radiation
  3. chemotheraputic drugs
  4. natural DNA toxins
127
Q

two possible locations for mutations

which are cause heritable mutation

A

somatic or germ cells

only germ cell mutations are heritable

128
Q

what are the two metabolic consequences of mutations

which can cause neoplasia

A

loss or gain of function

either can lead to neoplasia

129
Q

four types of DNA mutations

A
  1. silent
  2. missense
  3. nonsense
  4. frameshift
130
Q

how can mutations be silent

A

because the protein code is redundant, some times a change in codon doesn’t change the amino acid, or the changed amino acid doens;t change the protein

131
Q

SNP

A

single nucleotide polymorphism, a change in one nucleotide

132
Q

missense mutation

A

when a SNP doesn;t results in the production of a different protein by changing one amino acid

133
Q

nonsense mutation

A

when a codon is changed to a stop codon

134
Q

frameshift mutation

A

when there is a deletion or addition that changes the DNA by a multiple other than three, all the codons downstream are changed

135
Q

tumor suppressor genes

A

genes that repress the function of cell division genes and keep cells from dividing

136
Q
A

PAS 753 (Molecular Pathophysiology) (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions