Final Study Guide Flashcards

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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
Q

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?

A

24%

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26
Q

How do you create an inbred strain of an animal model?

A

by mating brothers and sisters for several generations

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27
Q

Differences in rodent behavior induced by the mother are called?

A

maternal effects

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28
Q

Success of selective breeding program is reflected by?

A

separation between low and high lines is achieved

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29
Q

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

A

single nucleotide polymorphism

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30
Q

Changing the expression of specific genes without changing the underlying DNA sequence is called?

A

transcription

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31
Q

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?

A

head-shaking

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32
Q

What is quantitative trait locus?

A

a sequence of DNA that affects a trait

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33
Q

Siblings born at the same time and formed from the same zygote are?

A

identical (monozygotic) twins

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34
Q

Children reared in the same family but who are not genetically related are considered?

A

environmental relatives

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35
Q

What branch of genetics investigates causes of individual differences, without identifying specific genetic or environmental influences?

A

Behavioral genetics

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36
Q

What source of environmental variation that contributes to differences between family members?

A

nonshared environment

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37
Q

Which types of twins are expected to have the same genetic sequence?

A

Identical twins

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38
Q

Newly arisen, spontaneous change in offspring DNa sequence that are absent in the parents is called?

A

de novo mutation

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39
Q

What surrounds the embryo in the uterus and contributes to the prenatal environment?

A

Amnion

Goes amnion - chorion - placenta

40
Q

What environment is a family environmental influence that produces similarity within the family?

A

shared environment

41
Q

What is the ‘equal environments assumption’ in twin methodology?

A

environment is similar for identical and fraternal twins

42
Q

Nature refers to?

A

genetics

43
Q

Heritability can be reliably measured by?

A

SNP heritability method, effect size, and sample size

44
Q

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%

A

True

45
Q

RNA interference technique is an example of what?

A

gene silencing

46
Q

Mouse synteny homology is?

A

similarity between mouse and human gene localization

47
Q

The genetic basis for schizophrenia was proved by?

A

adoption studies

48
Q

T/F: CRISPR-Cas9 is a genome editing technique used for creating mouse models

A

true

49
Q

Human behavior can be studied by?

A

twin method + adoption method

50
Q

T/F: Heritability estimates are reliable when the effect size and sample size are large

A

true

51
Q

Premutation is displayed in what condition?

A

Fragile X Syndrome

52
Q

A tetranucleotide sequence GGTC in a certain DNA repeated 50 times is called?

A

microsatellite

53
Q

A point mutation in the form of a nucleotide substitution within a gene sequence will result in the following change in the protein coded?

A
  1. amino acid remains the same
  2. an amino acid is substituted with a different amino acid
  3. truncated protein
54
Q

Which disorder is resultant of an expansion of a trinucleotide which incorporates an extra amino acid in the protein sequence?

A

Huntington’s disease

55
Q

T/F: Genetic anticipation is a phenomenon whereby a genetic disorder is passed on to the progeny with the symptoms becoming more severe

A

True

56
Q

In a non-synonymous single nucleotide polymorphism occuring in a protein coding gene sequence…

A

the amino acid sequence changes

57
Q

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?

A

premutation

58
Q

Epigenetics refers to?

A

methylation of cytosine residues

58
Q

T/F: Epigenetic marks are inherited from both parents

A

False; not inherited at all

59
Q

Gene expression is regulated by?

A

transcription control, RNA stability, and RNa interference

59
Q

T/F: The phenomenon of genomic imprinting is caused by core histone modifications

A

False; silenced by epigenetic tags

60
Q

The tendency of DNA sequences that are close on a chromosome to be inherited together during the meiosis phase of sexual reproduction is called?

A

linkage

61
Q

In females, one of the X chromosomes undergoes change into a heterochromatin by?

A

expression of a non-protein coding RNA, long non-coding RNA

62
Q

RNA interference can result in?

A

instability of the mRNA, translational repression, heterochromatin formation

63
Q

What is transcriptomics?

A

A technique that globally analyses all the mRNA in a tissue

64
Q

Proteins in a complex mixture can be effectively resolved by using?

A

two-dimensional gel electrophoresis

65
Q

T/F: A junction between two glial cells through which impulses pass by diffusion of a neurotransmitter is a synapse

A

false

66
Q

Siblings born at the same time and formed from separate zygotes are?

A

fraternal (dizygotic) twins

67
Q

T/F: Cognitive disabilities are often reflected in single gene disorders

A

True

68
Q

Huntington disease is caused by which type of mutation?

A

CAG repeat in the exons

69
Q

T/F: The performance of maze dull mice can be improved by placing them in a restrictive environment

A

False

70
Q

The phenomenon of genomic imprinting refers to?

A

silencing of one of the allele for a gene’s expression

71
Q

T/F: Rodent models are inbred for several generation to separate individual phenotypes

A

true

72
Q

T/F: Tyrosine in the diet can be regulated to control the severity of PKU

A

False; phenylalanine

73
Q

T/F: PKU is NOT an inherited disorder

A

False

74
Q

What are the three stop codons?

A

UAG
UGA
UAA

75
Q

What are Mendel’s three laws?

A

Law of Dominance + Uniformity
Law of Independent Assortment
Law of Segregation

76
Q

What is the law of dominance?

A

Some genes are dominant over others

77
Q

What is the law of independent assortment?

A

alleles of different genes segregate independently of one another during gametogenesis and are distributed independently of one another in the next generation

78
Q

Nurture refers to?

A

environment

79
Q

What is genomic imprinting?

A

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
Q

Fragile X syndrome is caused by?

A

a CGG repeat in the 5’ untranslated region of the FMR1 gene

81
Q

Describe the pedigree for Huntington’s

A

one affected parent yields to affected children

82
Q

Describe the parental affect of people with PKU v Huntingtons

A

PKU: no parent affected, recessive
HD: always one parent affected, dominant

83
Q

What is the risk of getting Huntington’s

A

50%

84
Q

What is the risk of getting PKU?

A

25%

85
Q

What are the criteria for Hardy-Weinberg equilibrium?

A

no natural selection
random mating
large population
no gene flow from other populations

86
Q

X-linked recessive traits tend to participate in this phenomenon?

A

skip a generation

87
Q

What is the difference between exons and introns?

A

exons: protein coding regions
introns: intergenic sequences

88
Q

Explain the central dogma of DNA

A

DNA -> RNA synthesis (transcription)
RNA -> protein synthesis (translation)
protein

89
Q

What are the three steps of mRNA processing?

A

5’ capping
intronic sequence splicing
3’ polyadenylation

90
Q

What is broad-sense heritability

A

all sources of genetic variability, whether genes operate in an additive manner or not

91
Q

What is narrow-sense heritability

A

phenotypic variability explained by additive genetic effects

92
Q

Define endophenotype

A

term used to separate behavioral symptoms into more stable phenotypes with a clear genetic connection

93
Q
A