Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Genetics > Genetics Exam 2 > Flashcards

Genetics Exam 2 Flashcards

New sh!t

0
Q

1

A

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

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

Homo/different

A

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

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

Monohybrid

A

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

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

Homozygous recessive

A

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

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

1:1

A

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

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

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

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

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

Consanguinous

A

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

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

Compound Heterozygote

A

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

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

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

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

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

Hetero

A

A monohybrid is always a (Homo/Heterozygote)

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

Incomplete Penetrance

A

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

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

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

Haploinsufficiency

A

Incomplete dominance is known as __________________

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

Incomplete Dominance

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Codominant

A

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

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

Pleiotropy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Locus Heterogeneity

A

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

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

Allelic Heterogeneity

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

F (Allelic Heterogeneity

A

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

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

Expressivity

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Genetic Anticipation
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)
25
Clinical Heterogeneity
Different mutations at the same locus that exhibit the different phenotypes display a characteristic known as ________ _____________
26
New Mutation
A ___ ________ arises in the germ cell of the parent or early on during embryogenesis of the affected individual
27
Gonadal (Germline) Mosaicism
The presence of a new mutation during early embryogenesis in a germline cell of an unaffected individual may lead to _______ __________
28
Mitochondrial
A maternal pattern of inheritance is likely related to _____________ inheritance
29
Heteroplasmy
Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease
30
Dosage Compensation
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.
31
XIST gene
Gene located on the X chromosome that codes for a long noncoding mRNA that stays in the nucleus and coats the X chomosome
32
T
(T/F) X Inactivation is random
33
F (X-inactivation is fixed)
(T/F) X inactivation can switch if there is a mutation on the X chromosome
34
F (Only ~85% of genes inactivated)
(T/F) X inactivation causes a barr body to form, keeping all of the genes on that chromosome from being transcribed
35
Manifesting Heterozygote
A female carrier of x-linked recessive gene who expresses the phenotype b/c the normal allele is inactivated in some tissues
36
Genomic Imprinting
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)
37
Garrod (Sir Archibald Edward)
First man to propose that diseases were caused by inborn errors or missing steps in the body's chemical pathways.
38
Monogenic (relating to a single pair of genes)
Most inborn metabolic diseases are _________ and inherited in an autosomal recessive pattern
39
Polygenic (multifactorial inheritance)
Late onset metabolic disorders are often _________ disorders
40
B
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
41
Founder Effect
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
42
Aminoacidopathies
_________________ 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
43
Restrictions/medication
Amino acid disorders can be counteracted by diet ____________ or, in some cases, __________
44
Urea
Often an amino acid disorder is the result of a defect in the ____ cycle
45
Phenocopy
a phenotype that resembles the phenotype produced by a specific gene but is caused instead by a different, typically non genetic, factor
46
Lysosomal Storage Disorder/Sphingolipids
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
Enzyme Replacement Therapy
A medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent
48
Substrate Reduction Therapy
For lysosome storage disorders: Reducing the amount of substrate so an enzyme can function more efficiently is known as
49
F
(T/F) Genetic screening can only be done to newborns and infants
50
T
(T/F) The Newborn Biological Screening process is mandated by each state individually
51
Screening/Testing
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
Preimplantation Genetic Diagnosis
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
Gene Therapy
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
Complementary Groups
Genes that have the ability to complement each other and restore the normal activity of the gene are known as _____________ ______
55
Epistasis
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
Epistatic/hypostatic
During epistasis the _________ gene is the gene whose phenotype is expressed and the __________ gene's phenotype is repressed
57
Different
Epistasis refers to gene interactions between alleles in (the same/different) genetic locus/loci
58
Hormone
In sex influenced patterns of inheritance expression of genes is dependent upon _______ expression
59
Genetic Suppression
When a double mutant has a less severe phenotype than either single mutant
60
Suppressor
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
Revertant
A _________ occurs when a mutation reverses in a specific gene resulting in wild type expression
62
Synthetic Lethality
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
Do not/complement
Mutations displaying synthetic lethality (do/do not) map to the same loci and fail to __________
64
Polygenic
Combined effect of two or more genes on a single characteristic
65
Multifactorial
Due to interactions between genes and the environment
66
Discrete Traits
Traits whose alleles are qualitatively different from each other (it is either present or absent)
67
Continuous Traits
Traits which have measurable gradations between the two end points, such as height, blood pressure, skin tone, etc.
68
Additive alleles
alleles that contribute to a quantitative (discrete) phenotype. More of these causes more phenotypic variation.
69
Selection
If all individuals were phenotypically identical there would be no opportunity for _________
70
Evolution
If all individuals were genotypically identical there would be no opportunity for _________
71
Diploidy
________ provides heterozygote protection
72
Balanced
________ polymorphism provides heterozygote advantage
73
Inverse
There is a (direct/inverse) relationship between the heritability of a trait and the impact of the environment on that trait
74
Liability threshold
Often in continuous traits a _________ ________ must be crossed before a disease is expressed.
75
F
(T/F) Recurrence risks are often the same throughout the generations of a family
76
Twin/Adoption
____ and _______ studies help us untangle the relationship between genetics and environmental influence on gene expression (able to determine CONCORDANCE)
77
Cytogenetics
The study of chromosomes and the diseases caused by abnormal chromosome structure/number is ____________
78
Giemsa
G-banding of chromosomes uses what stain?
79
AT
Chromosome staining works best on (AT/GC) rich regions
80
q
Long arm of chromosome
81
p (petite)
Short arm of chromosome
82
FISH (Fluorescent in situ hybridization)
A technique used to determine how many copies of a specific segment of DNA are present in a cell
83
Metacentric
A cromosome with the centromere in the middle
84
Acrocentric
A chromosome whose centromere is placed very close to, but not at, one end.
85
13 14 15 21 22
Which chromosomes are acrocentric?
86
Triploidy
Presence of additional set of chromosomes (3n)
87
Trisomy
3 copies of a chromosome
88
Derivative
A structurally rearranged chromosome
89
Aneuploidy
A change in the number of chromosomes
90
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
Germline
Older parents have a higher incidence of (somatic/germline) mutations leading to children with single gene disorders
92
Meiosis I
In females oogenesis is arrested in _______ _ until puberty
93
Metaphase II
After puberty egg cells complete meiosis I and are arrested in _________ _ until fertilization
94
Nondisjunction
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
3/1
First division nondisjunction in meiosis leads to two cells with _ copies of a chromosome and two cells with _ copies of a chromosome
96
2/3/1
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
Chorionic Villus Sampling
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
Amniocentesis
Prenatal diagnosis that can be done at 16-18 weeks and involves a sample of fluid surrounding the baby during gestation
99
Monosomy
Chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number (2n-1)
100
Uniparental Disomy
___________ ______ arises when an individual inherits two copies of a chromosome from one parent and no copies from the other parent
101
Isochromosome
Chromosome in which one arm is missing and other is duplicated in mirror-image fashion
102
Copy Number Variation
A particular gene or chromosomal region that is present in many copies is a ____ ______ _________
103
Paracentric Inversion
Inversion of a chromosome that does not include the centromere, involves two breaks along one arm only
104
Pericentric Inversion
Inversion of a chromosome that does include the centromere
105
Translocation
When a piece of one chromosome breaks off and attaches to another chromosome
106
Unbalanced
Genetic information is lost during a(n) (balanced/unbalanced) translocation
107
Balanced
A (balanced/unbalanced) translocation can lead to partial monosomy/trisomy in the offspring
108
Robertsonian
A ____________ translocation can only occur between acrocentric chromosomes

Genetics (42 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions