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Genetics > Genetics Exam 2 > Flashcards

Genetics Exam 2 Flashcards

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0
Q

1

A

How many phenotypes show in the F1 generation after a monohybrid cross?

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1
Q

Homo/different

A

A monohybrid cross is a cross between (Homo/Heterozygotes) for (the same/different) alleles of the same gene

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2
Q

Monohybrid

A

The offspring of two parents that are homozygous for alternative alleles of the same gene

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3
Q

Homozygous recessive

A

A testcross is the cross of any individual with a __________ _________ parent

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4
Q

1:1

A

Backcross of the F1 generation results in a ___ ratio for genotype and a ___ ratio for phenotype

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5
Q

Law of Segregation

A

Mendel’s law that states that the pairs of homologous chromosomes separate in meiosis so that only one chromosome from each pair is present in each gamete

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6
Q

Law of Dominance

A

Mendel’s law that states that in many traits one allele is dominant over the other allele. The “weaker (recessive)” allele is only expressed when it is paired with another recessive allele

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7
Q

Law of Independent Assortment

A

Mendel’s law that states each pair of alleles segregates independently of each other pair of alleles during gamete formation

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8
Q

Consanguinous

A

Two individuals are _____________ if they share at least one ancester in common (no more remote than great grandparent)

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9
Q

Compound Heterozygote

A

An individual with two mutated alleles that are not the same mutation but present as a recessive phenotype.

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10
Q

Transcription Factor

A

The SRY gene codes for a _____________ ______ that is located on the Y chromosome and plays a major role in development of “maleness”

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11
Q

Maternal/Paternal

A

Prader-Willi Syndrome is a disease that develops as a result of a mutation passed down on the ________ allele and a de novo mutation on the _______ allele

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12
Q

Paternal/Maternal

A

Angelman’s Syndrome is a disease that develops as a result of a mutation passed down on the ________ allele and a de novo mutation on the _______ allele

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13
Q

Hetero

A

A monohybrid is always a (Homo/Heterozygote)

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14
Q

Incomplete Penetrance

A

Dominant alleles that are not always expressed display a characteristic known as __________ __________

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15
Q

D

A

Which of the following is not a factor controlling penetrance of an allele?

a) Genetic modifiers
b) Epigenetic regulation
c) Environmental codeterminants
d) Mutation in gene processing

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16
Q

Haploinsufficiency

A

Incomplete dominance is known as __________________

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17
Q

Incomplete Dominance

A

A heterozygous phenotype that is an intermediate of the two homozygous phenotypes displays a characteristic known as __________ _________

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18
Q

Codominant

A

__________ alleles are both detected in the presence of the other allele

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19
Q

Pleiotropy

A

A single gene mutation affecting multiple parts of the body it is known as __________

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20
Q

Locus Heterogeneity

A

Mutations at different loci can produce the same phenotype display a characteristic known as _____ _____________

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21
Q

Allelic Heterogeneity

A

Different mutations at the same locus that exhibit the same phenotype display a characteristic known as _______ _____________

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22
Q

F (Allelic Heterogeneity

A

(T/F) The CF mutation is characterized by both locus heterogeneity and pleiotrophy

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23
Q

Expressivity

A

____________ is the degree to which the allele expresses the phenotype in an individual

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24
Q

Genetic Anticipation

A

A factor tied to expressivity where a trait seems to be more severe or show an earlier onset in successive generations is known as _______ ____________ (i.e. Huntington’s)

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25
Q

Clinical Heterogeneity

A

Different mutations at the same locus that exhibit the different phenotypes display a characteristic known as ________ _____________

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26
Q

New Mutation

A

A ___ ________ arises in the germ cell of the parent or early on during embryogenesis of the affected individual

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27
Q

Gonadal (Germline) Mosaicism

A

The presence of a new mutation during early embryogenesis in a germline cell of an unaffected individual may lead to _______ __________

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28
Q

Mitochondrial

A

A maternal pattern of inheritance is likely related to _____________ inheritance

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29
Q

Heteroplasmy

A

Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease

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30
Q

Dosage Compensation

A

The process by which excessive numbers of a sex chromosome are equalized b/w M and F, often by methylating the X chromosome to form a Barr body.

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31
Q

XIST gene

A

Gene located on the X chromosome that codes for a long noncoding mRNA that stays in the nucleus and coats the X chomosome

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32
Q

T

A

(T/F) X Inactivation is random

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33
Q

F (X-inactivation is fixed)

A

(T/F) X inactivation can switch if there is a mutation on the X chromosome

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34
Q

F (Only ~85% of genes inactivated)

A

(T/F) X inactivation causes a barr body to form, keeping all of the genes on that chromosome from being transcribed

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35
Q

Manifesting Heterozygote

A

A female carrier of x-linked recessive gene who expresses the phenotype b/c the normal allele is inactivated in some tissues

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36
Q

Genomic Imprinting

A

A phenomenon in which expression of an allele in offspring depends on whether the allele is inherited from the male or female parent. Usually occurs when the gene from one parent is methylated (methylation occurs in ~200 genes)

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37
Q

Garrod (Sir Archibald Edward)

A

First man to propose that diseases were caused by inborn errors or missing steps in the body’s chemical pathways.

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38
Q

Monogenic (relating to a single pair of genes)

A

Most inborn metabolic diseases are _________ and inherited in an autosomal recessive pattern

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39
Q

Polygenic (multifactorial inheritance)

A

Late onset metabolic disorders are often _________ disorders

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40
Q

B

A

Which of the following is not an example of a cause of a single gene (monogenic) disorder?

a) Enzyme defect
b) Methylation
c) Receptor/transport protein defect
d) Structural protein defect

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41
Q

Founder Effect

A

Random effect that can occur when a small population settles in an area separated from the rest of the population and interbreeds, producing unique allelic variations, sometimes diseases

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42
Q

Aminoacidopathies

A

_________________ are caused by the body’s inability to breakdown or metabolize the certain aa’s or their waste and result in the build up of their by-products days to months following birth

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43
Q

Restrictions/medication

A

Amino acid disorders can be counteracted by diet ____________ or, in some cases, __________

44
Q

Urea

A

Often an amino acid disorder is the result of a defect in the ____ cycle

45
Q

Phenocopy

A

a phenotype that resembles the phenotype produced by a specific gene but is caused instead by a different, typically non genetic, factor

46
Q

Lysosomal Storage Disorder/Sphingolipids

A

A hereditary disorder associated with abnormal lysosomes, where the sufferer is missing one of the lysosomal digestive enzymes. May lead to an accumulation of _____________ affecting multiorgan systems

47
Q

Enzyme Replacement Therapy

A

A medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent

48
Q

Substrate Reduction Therapy

A

For lysosome storage disorders: Reducing the amount of substrate so an enzyme can function more efficiently is known as

49
Q

F

A

(T/F) Genetic screening can only be done to newborns and infants

50
Q

T

A

(T/F) The Newborn Biological Screening process is mandated by each state individually

51
Q

Screening/Testing

A

A test done on every member of the population regardless of family history or conditions is a genetic _________, whereas a test done on an individual for a specific disease is known as genetic _______

52
Q

Preimplantation Genetic Diagnosis

A

The technique used to identify genetic defects in embryos created through in vitro fertilization (IVF) before transferring them into the uterus is known as ______________ _______ _________

53
Q

Gene Therapy

A

The insertion of working copies of a gene into the cells of a person with a genetic disorder in an attempt to correct the disorder

54
Q

Complementary Groups

A

Genes that have the ability to complement each other and restore the normal activity of the gene are known as _____________ ______

55
Q

Epistasis

A

A type of gene interaction in which one gene alters the phenotypic effects of another gene that is independently inherited., One gene masks the expression of a different gene for a different trait

56
Q

Epistatic/hypostatic

A

During epistasis the _________ gene is the gene whose phenotype is expressed and the __________ gene’s phenotype is repressed

57
Q

Different

A

Epistasis refers to gene interactions between alleles in (the same/different) genetic locus/loci

58
Q

Hormone

A

In sex influenced patterns of inheritance expression of genes is dependent upon _______ expression

59
Q

Genetic Suppression

A

When a double mutant has a less severe phenotype than either single mutant

60
Q

Suppressor

A

A __________ is a mutant allele of a gene that reverses the effect of a mutation of another gene resulting in a wild type or near wild type expression

61
Q

Revertant

A

A _________ occurs when a mutation reverses in a specific gene resulting in wild type expression

62
Q

Synthetic Lethality

A

When two single mutations are viable, but a double mutation is lethal it is known as _________ __________ (Common in haploinsufficiency mutants or mutants in compensating genes)

63
Q

Do not/complement

A

Mutations displaying synthetic lethality (do/do not) map to the same loci and fail to __________

64
Q

Polygenic

A

Combined effect of two or more genes on a single characteristic

65
Q

Multifactorial

A

Due to interactions between genes and the environment

66
Q

Discrete Traits

A

Traits whose alleles are qualitatively different from each other (it is either present or absent)

67
Q

Continuous Traits

A

Traits which have measurable gradations between the two end points, such as height, blood pressure, skin tone, etc.

68
Q

Additive alleles

A

alleles that contribute to a quantitative (discrete) phenotype. More of these causes more phenotypic variation.

69
Q

Selection

A

If all individuals were phenotypically identical there would be no opportunity for _________

70
Q

Evolution

A

If all individuals were genotypically identical there would be no opportunity for _________

71
Q

Diploidy

A

________ provides heterozygote protection

72
Q

Balanced

A

________ polymorphism provides heterozygote advantage

73
Q

Inverse

A

There is a (direct/inverse) relationship between the heritability of a trait and the impact of the environment on that trait

74
Q

Liability threshold

A

Often in continuous traits a _________ ________ must be crossed before a disease is expressed.

75
Q

F

A

(T/F) Recurrence risks are often the same throughout the generations of a family

76
Q

Twin/Adoption

A

____ and _______ studies help us untangle the relationship between genetics and environmental influence on gene expression (able to determine CONCORDANCE)

77
Q

Cytogenetics

A

The study of chromosomes and the diseases caused by abnormal chromosome structure/number is ____________

78
Q

Giemsa

A

G-banding of chromosomes uses what stain?

79
Q

AT

A

Chromosome staining works best on (AT/GC) rich regions

80
Q

q

A

Long arm of chromosome

81
Q

p (petite)

A

Short arm of chromosome

82
Q

FISH (Fluorescent in situ hybridization)

A

A technique used to determine how many copies of a specific segment of DNA are present in a cell

83
Q

Metacentric

A

A cromosome with the centromere in the middle

84
Q

Acrocentric

A

A chromosome whose centromere is placed very close to, but not at, one end.

85
Q

13 14 15 21 22

A

Which chromosomes are acrocentric?

86
Q

Triploidy

A

Presence of additional set of chromosomes (3n)

87
Q

Trisomy

A

3 copies of a chromosome

88
Q

Derivative

A

A structurally rearranged chromosome

89
Q

Aneuploidy

A

A change in the number of chromosomes

90
Q

A

A 
Which of the following is an incorrect way of writing a karyotype?
A) 46, XXY
B) 47, XX +21
C) 46, XX
D) 48, XXY +13
91
Q

Germline

A

Older parents have a higher incidence of (somatic/germline) mutations leading to children with single gene disorders

92
Q

Meiosis I

A

In females oogenesis is arrested in _______ _ until puberty

93
Q

Metaphase II

A

After puberty egg cells complete meiosis I and are arrested in _________ _ until fertilization

94
Q

Nondisjunction

A

An error in meiosis or mitosis in which members of a pair of homologous chromosomes or a pair of sister chromatids fail to separate properly from each other.

95
Q

3/1

A

First division nondisjunction in meiosis leads to two cells with _ copies of a chromosome and two cells with _ copies of a chromosome

96
Q

2/3/1

A

Second division nondisjunction in meiosis leads to two cells with _ copies of a chromosome and two cells with _ and _ copies of a chromosome, respectively

97
Q

Chorionic Villus Sampling

A

Prenatal diagnosis that can be done at 10-12 weeks and involves a biopsy of tissue containing the same genetic information as the fetus

98
Q

Amniocentesis

A

Prenatal diagnosis that can be done at 16-18 weeks and involves a sample of fluid surrounding the baby during gestation

99
Q

Monosomy

A

Chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number (2n-1)

100
Q

Uniparental Disomy

A

___________ ______ arises when an individual inherits two copies of a chromosome from one parent and no copies from the other parent

101
Q

Isochromosome

A

Chromosome in which one arm is missing and other is duplicated in mirror-image fashion

102
Q

Copy Number Variation

A

A particular gene or chromosomal region that is present in many copies is a ____ ______ _________

103
Q

Paracentric Inversion

A

Inversion of a chromosome that does not include the centromere, involves two breaks along one arm only

104
Q

Pericentric Inversion

A

Inversion of a chromosome that does include the centromere

105
Q

Translocation

A

When a piece of one chromosome breaks off and attaches to another chromosome

106
Q

Unbalanced

A

Genetic information is lost during a(n) (balanced/unbalanced) translocation

107
Q

Balanced

A

A (balanced/unbalanced) translocation can lead to partial monosomy/trisomy in the offspring

108
Q

Robertsonian

A

A ____________ translocation can only occur between acrocentric chromosomes

Genetics (42 decks)

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