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CTGN 1st Shift > UNIT 2.1. Mendelian Genetics > Flashcards

UNIT 2.1. Mendelian Genetics Flashcards

1
Q

Branch of biology that deals with heredity and variation of organisms

A

Genetics

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2
Q

Carry the hereditary information

A

Chromosomes

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3
Q

The hereditary information

A

Genes

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4
Q

Contain DNA that codes for the same genes

A

Homologous chromosomes

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5
Q

T/F: Homologous chromosomes look alike and have the same genetic material

A

F (they look alike but are not the same)

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6
Q

T/F: Sister chromatids are exact replicas but homologous chromosomes are not

A

T

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7
Q

A unit of heredity

A

Gene

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8
Q

A section of DNA sequence encoding a single protein

A

Gene

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9
Q

The entire set of genes in an organism

A

Genome

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10
Q

Two genes that occupy the same position on homologous chromosomes and that cover the same trait

A

Alleles

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11
Q

A fixed location on a strand of DNA where a gene or one of its alleles is located

A

Locus

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12
Q

The genetic makeup of an organism

A

Genotype

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13
Q

The physical appearance of an organism

A

Phenotype

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14
Q

Genotype + environment

A

Phenotype

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15
Q

Having identical genes for a particular characteristic

A

Homozygous

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16
Q

Having two different genes for a particular characteristic

A

Heterozygous

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17
Q

A trait in which a gene is carried on a sex chromosome

A

Sex-linked trait

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18
Q

Traits controlled by genes on one of 22 pairs of autosomes

A

Autosomal trait

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19
Q

The allele of a gene that masks or suppresses the expression of an alternate allele

A

Dominant

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20
Q

The trait appears in the heterozygous condition

A

Dominant

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21
Q

An allele that is masked by dominant allele

A

Recessive

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22
Q

An allele that does not appear in the heterozygous condition

A

Recessive

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23
Q

An allele that only appears for homozygous

A

Recessive

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24
Q

A genetic cross involving a single pair of genes

A

Monohybrid cross

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25
Q

A genetic cross where parents differ by a single trait

A

Monohybrid cross

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26
Q

A genetic cross used for the Law of Segregation

A

Monohybrid cross

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27
Q

A genetic cross between two different genes that differ in two observed traits

A

Dihybrid cross

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28
Q

A genetic cross used for independent assortment

A

Dihybrid cross

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29
Q

P means ___

A

Parental generation

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30
Q

F1 means ___

A

First filial generation

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31
Q

F2 means ___

A

Second filial generation

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32
Q

A phenotype that is the most common expression of a particular allele combination in a population

A

Wild type

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33
Q

T/F: The wild type is only dominant

A

F (may be recessive or dominant)

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34
Q

A variant of a gene’s expression that arises when the gene undergoes a change

A

Mutant phenotype

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35
Q

Known as an illness that typically causes uncontrollable movements and changes in behavior and thinking

A

Huntington disease (HD)

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36
Q

The first distinction of single-gene diseases

A

How the px. is related to an affected relative

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37
Q

The second distinction of single-gene diseases

A

Tests can sometimes predict the risk of developing symptoms

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38
Q

T/F: all cells harbor the mutation if the person has inherited it

A

T

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39
Q

The third distinction of single-gene diseases

A

They may be much more common in some populations than others

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40
Q

T/F: Genes are selective of the type of people or certain populations

A

F (mutations stay in certain populations because we tend to have children with people similar to ourselves)

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41
Q

Many single-gene diseases affect fewer than 1 in ___ individuals

A

10 000

42
Q

Consisting of sick children and their parents can reveal whether the child inherited two disease-causing mutations from carrier parents, or whether a dominant mutation arose anew

A

Tests of “trios”

43
Q

A term where dominant mutation arose anew

A

“de novo”

44
Q

Traits of two parents “blend” together and inherited by the offspring

A

Blending Theory of Inheritance

45
Q

Seven traits Mendel looked at for his pea plant

A
  1. Round/Wrinkled
  2. Yellow/Green
  3. Purple/White petals
  4. Green/Yellow unripe pods
  5. Inflated/pinched ripe pods
  6. Axial/terminal flowers
  7. Long/short stems
46
Q

Particulate Theory of Inheritance is also known as the ___

A

Gene idea

47
Q

Involves the passing of discrete units of inheritance, or genes, from parents to offspring

A

Inheritance

48
Q

The Particulate Theory of Inheritance is ___’s theory

A

Mendel

49
Q

The theory where genes are present within chromosomes inside the cell

A

Chromosome Theory of Inheritance

50
Q

In the Chromosome Theory of Inheritance, genes and chromosomes are in ____ in ____ cells

A

pair
diploid

51
Q

Who proposed the Chromosome Theory of Inheritance?

A

Walter Sutton

52
Q

Who proved the Chromosome Theory of Inheritance

A

Thomas Morgan

53
Q

Insect used to prove the Chromosome Theory of Inheritance

A

Fruit fly

54
Q

Enumerate the three principles of pattern of inheritance

A
  1. Principle of Dominance
  2. Principle of Segregation
  3. Principle of Independent Assortment
55
Q

Identify the principle of pattern of inheritance: one allele masks another, one allele was dominant over the other in the F1 generation

A

Principle of Dominance

56
Q

Identify the principle of pattern of inheritance: when gametes are formed, the pairs of hereditary factors (genes) become separated, so that each sex cell (egg/sperm) receives only one kind of gene

A

Principle of Seggregation

57
Q

Identify the principle of pattern of inheritance: genes located on different chromosomes will be inherited independently of each other

A

Principle of Independent Assortment

58
Q

T/F: true breeding always produce the same phenotype

A

T

59
Q

“Gain of function”

A

Dominance

60
Q

Action of an abnormal protein that interferes with the function of the normal protein

A

Dominance

61
Q

A disease where the dominant mutant allele encodes an abnormally long protein that prevents the normal protein from functioning certain brain cells

A

Huntington disease

62
Q

A single gene on chromosome ___, ___, confers the eye color by controlling melanin synthesis

A

15
OCA2

63
Q

The gene missing which results in albinism

A

chromosome 15
OCA2

64
Q

A recessive allele of ___ abolishes over OCA2 and results to blue eyes

A

HERC2

65
Q

T/F: a person can inherit only one copy of the recessive allele HERC2 to have blue eyes

A

F (should inherit two copies)

66
Q

T/F: in sickle cell disease, carriers can still develop a life-threatening breakdown of muscle if exposed to environmental heat

A

T

67
Q

An individual with two different recessive alleles for the same gene is termed a ___

A

Compound heterozygote

68
Q

T/F: most genes have two alleles and two variations of the associated traits

A

F (more than two)

69
Q

___ variant is when a child has a recessive allele from each parent with the variant located at a different position within the same gene

A

Compound heterozygous (CH)

70
Q

Type of nucleotide inheritance determination for 10X genomics or fosmid pool-based strategy

A

Laboratory-based

71
Q

Type of nucleotide inheritance determination for SHAPEIT2, Beagle, Eagle2, HapCUT2

A

Computer-based

72
Q

CH variants are understudies in ___ disease and may contribute to ___

A

pediatric
early disease onset

73
Q

First genetic disorder for which mass post-natal genetic screening was available

A

Phenylketonuria

74
Q

Phenylketonuria is caused by ___

A

Compound heterozygosity

75
Q

A disease which may present in juvenile or adult onset which causes classic infantile disease

A

Tay-Sachs disease

76
Q

A disease where an individual with one allele for hemoglobin S and one allele for hemoglobin C would still develop the disease despite being heterozygous

A

Sickle cell anemia

77
Q

Arises from “loss of function”

A

Recessive

78
Q

Inborn error of metabolism happens in ___ (dominant or recessive)

A

Recessive

79
Q

____ (dominant or recessive) diseases tend to be more severe, and produce symptoms earlier, than dominant diseases

A

Recessive

80
Q

Means “shared blood”

A

Consanguinity

81
Q

Alleles inherited from shared ancestors are said to be “___”

A

Identical by descent

82
Q

Identify is autosomal dominant or autosomal recessive: males and females affected, with equal frequency

A

Both

83
Q

Identify is autosomal dominant or autosomal recessive: successive generations affected until no one inherits the mutation

A

Autosomal Dominant

84
Q

Identify is autosomal dominant or autosomal recessive: affected individual has an affected parent, unless he or she has a de novo mutation

A

Autosomal Dominant

85
Q

Identify is autosomal dominant or autosomal recessive: can skip generations

A

Autosomal Recessive

86
Q

Identify is autosomal dominant or autosomal recessive: affected individual has parents who are affected or are carriers (heterozygotes)

A

Autosomal Recessive

87
Q

Mendel’s 1st Law is the Law of ___

A

Segregation

88
Q

Reflects the actions of chromosomes and the genes they carry during meiosis

A

Law of Segregation

89
Q

The law of segregation uses ___ cross

A

Monohybrid

90
Q

Mendel’s 2nd Law is the Law of ___

A

Independent Assortment

91
Q

States that for two genes on different chromosomes, the inheritance of one gene does not influence the chance of inheriting the other gene

A

Law of Independent Assortment

92
Q

In independent assortment, the two genes are said to “___” because they are packaged into gametes at random

A

Independently assort

93
Q

The law of independent assortment uses ___ cross

A

Dihybrid

94
Q

A lethal genetic disease affecting Caucasians

A

Cystic Fibrosis

95
Q

Cystic fibrosis is caused by mutant recessive gene carried by 1 in ___ people of European descent

A

20

96
Q

1 in ___ Caucasian couples will be both carriers of cystic fibrosis - 1 in ___ children will have it

A

400
4

97
Q

A fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain

A

Huntington Disease

98
Q

Known as the quintessential family disease because every child of a parent with it has a 50/50 chance of inheriting the faulty gene

A

Huntington Disease

99
Q

Allele for Huntington’s disease is ___ (dominant or recessive)

A

Dominant

100
Q

Mating that involve parents that differ in two independent traits

A

Dihybrid cross

101
Q

When you have an individual with an unknown genotype, you do a ___

A

Test cross

102
Q

Cross with a homozygous recessive individual

A

Test cross

CTGN 1st Shift (8 decks)

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