Final Study Guide Flashcards

(95 cards)

1
Q

What is the single most cause of intellectual disability that is inherited?

A

defective fragile x gene

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2
Q

Prior to Charles Darwin’s Origin of Species theories, the prevailing hypothesis about lifeform adaptations was based on?

A

theology, argument from design, and creator’s wisdom

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3
Q

A locus that has several alternative possible nucleotide sequences is called?

A

single nucleotide polymorphism

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4
Q

Sickle cell disease is due to which point mutation?

A

missense

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5
Q

T/F: Mutations are always inherited

A

false

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6
Q

In eukaryotes, the first modification that happens to a transcript for stabilizing is?

A

5’ cap

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7
Q

During replication, discontinuous synthesis of DNA takes place on the __ __

A

lagging strand

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8
Q

Which childhood psychopathology is most influenced by genetic influence?

A

ADHD

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9
Q

What is a possible reason for individuals differences in behavior?

A

genetics and environment

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10
Q

Which of these is NOT inherited?
Huntington’s disease
Fragile X syndrome
Down syndrome
sickle cell anemia

A

Down syndrome

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11
Q

All transcripts begin with which codon?

A

AUG

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12
Q

Who is the scientist that is considered the father of modern behavioral genetics?

A

Francis Galton

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13
Q

Mendel’s first law of hereditary states?

A

each trait separates during reproduction - law of segregation

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14
Q

The importance of proper assessment in work on human heredity was first emphasized by who?

A

Francis Galton

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15
Q

Behavioral genetics combines what?

A

an individuals genetics and environmental influence

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16
Q

T/F: Huntington’s disease is an example of recessive inheritance

A

False

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17
Q

What led Francis Galton to conclude that mental characteristics are inherited?

A

Family study and quantitative measurements

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18
Q

Explain the PKU pedigree

A

No affected parents, only affected PKU person

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19
Q

The albino phenotype is an inherited trait that has behavioral consequences in mice. In the offspring of two carrier mice, the Mendelian phenotypic ratio of 3 normal to 1 albino is observed. How many genes does this suggest albinism is controlled by?

A

1

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20
Q

How is it possible that our roughly 25,000 genes can produce the hundreds of thousands of proteins made by the body?

A

alternate splicing of mRNA

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21
Q

What is the approximate size of the human genome?

A

3 billion basepairs

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22
Q

Down syndrome is caused by the presence of an extra copy of chromosome 21 and is also known as Trisomy 21. This is caused by?

A

Non-disjunction

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23
Q

T/F: CRISPR-Cas 9 is a genome editing technique

A

true

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24
Q

T/F: Gene expression is a complex and highly regulated phenomenon displayed by living organisms

A

true

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25
A certain double DNA molecule is determined to have an adenine content of 26%. If this molecule undergoes replication, what % of cytosine will be in the newly synthesized DNA?
24%
26
How do you create an inbred strain of an animal model?
by mating brothers and sisters for several generations
27
Differences in rodent behavior induced by the mother are called?
maternal effects
28
Success of selective breeding program is reflected by?
separation between low and high lines is achieved
29
A nucleotide locus that has several alternative possible DNA sequences is called?
single nucleotide polymorphism
30
Changing the expression of specific genes without changing the underlying DNA sequence is called?
transcription
31
In a particular population of mice, certain individuals display a phenotype called 'head-shaking' (inherited as a dominant trait). Other mice display a recessive trait called 'back-arching' Which of these traits would be easier to eliminate from the mouse population by selective breeding?
head-shaking
32
What is quantitative trait locus?
a sequence of DNA that affects a trait
33
Siblings born at the same time and formed from the same zygote are?
identical (monozygotic) twins
34
Children reared in the same family but who are not genetically related are considered?
environmental relatives
35
What branch of genetics investigates causes of individual differences, without identifying specific genetic or environmental influences?
Behavioral genetics
36
What source of environmental variation that contributes to differences between family members?
nonshared environment
37
Which types of twins are expected to have the same genetic sequence?
Identical twins
38
Newly arisen, spontaneous change in offspring DNa sequence that are absent in the parents is called?
de novo mutation
39
What surrounds the embryo in the uterus and contributes to the prenatal environment?
Amnion Goes amnion - chorion - placenta
40
What environment is a family environmental influence that produces similarity within the family?
shared environment
41
What is the 'equal environments assumption' in twin methodology?
environment is similar for identical and fraternal twins
42
Nature refers to?
genetics
43
Heritability can be reliably measured by?
SNP heritability method, effect size, and sample size
44
A 60% concordance between monozygotic twins means that if one of the twins has a condition, the chance that other twin will have the same condition is 60%
True
45
RNA interference technique is an example of what?
gene silencing
46
Mouse synteny homology is?
similarity between mouse and human gene localization
47
The genetic basis for schizophrenia was proved by?
adoption studies
48
T/F: CRISPR-Cas9 is a genome editing technique used for creating mouse models
true
49
Human behavior can be studied by?
twin method + adoption method
50
T/F: Heritability estimates are reliable when the effect size and sample size are large
true
51
Premutation is displayed in what condition?
Fragile X Syndrome
52
A tetranucleotide sequence GGTC in a certain DNA repeated 50 times is called?
microsatellite
53
A point mutation in the form of a nucleotide substitution within a gene sequence will result in the following change in the protein coded?
1. amino acid remains the same 2. an amino acid is substituted with a different amino acid 3. truncated protein
54
Which disorder is resultant of an expansion of a trinucleotide which incorporates an extra amino acid in the protein sequence?
Huntington's disease
55
T/F: Genetic anticipation is a phenomenon whereby a genetic disorder is passed on to the progeny with the symptoms becoming more severe
True
56
In a non-synonymous single nucleotide polymorphism occuring in a protein coding gene sequence...
the amino acid sequence changes
57
An expanded number of triplet repeats of DNA that does not itself result in a disorder, but which predisposes offspring for the disorder is called?
premutation
58
Epigenetics refers to?
methylation of cytosine residues
58
T/F: Epigenetic marks are inherited from both parents
False; not inherited at all
59
Gene expression is regulated by?
transcription control, RNA stability, and RNa interference
59
T/F: The phenomenon of genomic imprinting is caused by core histone modifications
False; silenced by epigenetic tags
60
The tendency of DNA sequences that are close on a chromosome to be inherited together during the meiosis phase of sexual reproduction is called?
linkage
61
In females, one of the X chromosomes undergoes change into a heterochromatin by?
expression of a non-protein coding RNA, long non-coding RNA
62
RNA interference can result in?
instability of the mRNA, translational repression, heterochromatin formation
63
What is transcriptomics?
A technique that globally analyses all the mRNA in a tissue
64
Proteins in a complex mixture can be effectively resolved by using?
two-dimensional gel electrophoresis
65
T/F: A junction between two glial cells through which impulses pass by diffusion of a neurotransmitter is a synapse
false
66
Siblings born at the same time and formed from separate zygotes are?
fraternal (dizygotic) twins
67
T/F: Cognitive disabilities are often reflected in single gene disorders
True
68
Huntington disease is caused by which type of mutation?
CAG repeat in the exons
69
T/F: The performance of maze dull mice can be improved by placing them in a restrictive environment
False
70
The phenomenon of genomic imprinting refers to?
silencing of one of the allele for a gene's expression
71
T/F: Rodent models are inbred for several generation to separate individual phenotypes
true
72
T/F: Tyrosine in the diet can be regulated to control the severity of PKU
False; phenylalanine
73
T/F: PKU is NOT an inherited disorder
False
74
What are the three stop codons?
UAG UGA UAA
75
What are Mendel's three laws?
Law of Dominance + Uniformity Law of Independent Assortment Law of Segregation
76
What is the law of dominance?
Some genes are dominant over others
77
What is the law of independent assortment?
alleles of different genes segregate independently of one another during gametogenesis and are distributed independently of one another in the next generation
78
Nurture refers to?
environment
79
What is genomic imprinting?
process by which only one copy of a gene in an individual (either from their mother or their father) is expressed, while the other copy is suppressed.
80
Fragile X syndrome is caused by?
a CGG repeat in the 5' untranslated region of the FMR1 gene
81
Describe the pedigree for Huntington's
one affected parent yields to affected children
82
Describe the parental affect of people with PKU v Huntingtons
PKU: no parent affected, recessive HD: always one parent affected, dominant
83
What is the risk of getting Huntington's
50%
84
What is the risk of getting PKU?
25%
85
What are the criteria for Hardy-Weinberg equilibrium?
no natural selection random mating large population no gene flow from other populations
86
X-linked recessive traits tend to participate in this phenomenon?
skip a generation
87
What is the difference between exons and introns?
exons: protein coding regions introns: intergenic sequences
88
Explain the central dogma of DNA
DNA -> RNA synthesis (transcription) RNA -> protein synthesis (translation) protein
89
What are the three steps of mRNA processing?
5' capping intronic sequence splicing 3' polyadenylation
90
What is broad-sense heritability
all sources of genetic variability, whether genes operate in an additive manner or not
91
What is narrow-sense heritability
phenotypic variability explained by additive genetic effects
92
Define endophenotype
term used to separate behavioral symptoms into more stable phenotypes with a clear genetic connection
93