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CTGN 1st Shift > UNIT 2.2. Non Mendelian Genetics > Flashcards

UNIT 2.2. Non Mendelian Genetics Flashcards

1
Q

T/F: When genes are close to each other on the same chromosome, they usually segregate and combine with the other chromosome

A

F (they do not segregate)

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2
Q

T/F: linkage does not support Mendel’s predictions as it violates independent assortment

A

T

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3
Q

Genes close on a chromosome are packaged into the same gametes and are said to be “___”

A

Linked

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4
Q

___ refers to the transmission of genes on the same chromosome

A

Linkage

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5
Q

T/F: linked genes do not assort independently and do not produce Mendelian ratios for crosses tracking two or more genes

A

T

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6
Q

Developed Punnett square

A

William Bateson
R. C. Punnett

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7
Q

Identified genes on Drosophila’s 4 pairs of chromosomes

A

Thomas Morgan

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8
Q

How many genes did Morgan identify in Drosophilia?

A

50

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9
Q

Linkage maps were first developed by ___

A

Alfred Sturtevant

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10
Q

A map based on the frequencies of recombination between markers during crossover of homologous chromosome

A

Linkage map

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11
Q

A map of the genes on a chromosome based on linkage analysis

A

Linkage map

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12
Q

T/F: A linkage map does not show the relative position of the genes, but the physical distances between them

A

F (it shows relative position, not distance)

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13
Q

The nonrandom association between DNA sequence which is always inherited together

A

Linkage disequilibrium (LD)

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14
Q

LD blocks that could be used to track genes in populations

A

Haplotypes

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15
Q

A combination of alleles at multiple linked loci that are transmitted together

A

Haplotype

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16
Q

The term haplotype is a portmanteau of “___”

A

Haploid genotype

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17
Q

A set of single nucleotide polymorphisms (SNPs) on a single chromatid that are statistically associated

A

Haplotype

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18
Q

May be categorized by how sex affects phenotypic traits

A

Sex-related genetics

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19
Q

Extensively controls physical, psychological, and behavioral traits which are also influenced by genetic information

A

Sex-linked traits

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20
Q

Males with translocation of the gene can have chromosomes of __

A

XX

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21
Q

Females with mutation of the gene can have chromosomes of __

A

XY

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22
Q

__-linked traits are rare because the chromosome has few genes

A

Y

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23
Q

___-linked traits are passed from male to male

A

Y

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24
Q

T/F: no other Y-linked traits besides infertility are yet clearly defined

A

T

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25
Q

Sex-linked traits are more likely ___-linked

A

X

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26
Q

___-linked traits are passed just like autosomal traits

A

X

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27
Q

Two copies are required for expression of a recessive allele and one copy for a dominant allele

A

X-linked trait

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28
Q

A man inherits an X-linked trait only from his ___ (mother or father)

A

Mother

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29
Q

The human male is considered ___ for X-linked traits, because he has only one set of X-linked genes

A

Hemizygous

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30
Q

Identify if X-linked Recessive Trait or X-linked Dominant Trait: always expressed in the male

A

X-linked Recessive Trait

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31
Q

Identify if X-linked Recessive Trait or X-linked Dominant Trait: affected male inherits trait from heterozygote or homozygote mother

A

X-linked Recessive Trait

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32
Q

Identify if X-linked Recessive Trait or X-linked Dominant Trait: expressed in a female homozygote and very rarely in a female heterozygote

A

X-linked Recessive Trait

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33
Q

Identify if X-linked Recessive Trait or X-linked Dominant Trait: affected female inherits trait from affected father and affected or heterozygote mother

A

X-linked Recessive Trait

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34
Q

Identify if X-linked Recessive Trait or X-linked Dominant Trait: expressed in females in one copy

A

X-linked Dominant Trait

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35
Q

Identify if X-linked Recessive Trait or X-linked Dominant Trait: much more severe effects in males

A

X-linked Dominant Trait

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36
Q

Identify if X-linked Recessive Trait or X-linked Dominant Trait: high rates of miscarriage due to early lethality in males

A

X-linked Dominant Trait

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37
Q

Identify if X-linked Recessive Trait or X-linked Dominant Trait: passed from male to all daughters but to no sons

A

X-linked Dominant Trait

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38
Q

Hemophilia B is a ___-linked trait

A

X

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39
Q

Hemophilia B is also known as ___ and factor ___ deficiency

A

Christmas disease
IX

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40
Q

A female who has an X-linked dominant trait has a 1 in __ probability of passing it to her offspring, male or female

A

2

41
Q

T/F: males are more severely affected than females

A

T

42
Q

A rare neurodevelopmental disorder where a child cannot speak, use her hands, walk, eat, or breathe easily

A

Rett syndrome

43
Q

T/F: Rett syndrome is degenerative, not progressive

A

F (it is progressive, not degenerative)

44
Q

Affects the structure or function of the body that is present in only males or only females

A

Sex-limited trait

45
Q

The gene for sex-limited trait is ___

A

Autosomal

46
Q

Due to genes on autosomes, and the expressions of these traits are limited to only one sex

A

Sex-limited trait

47
Q

Lactation is an example of ___

A

Sex-limited trait

48
Q

A sudden rise in blood pressure late in pregnancy, which kills 50 000 women worldwide each year

A

Preeclampsia

49
Q

Preeclampsia is a disease where the ___ (male or female) genome play a role by contributing to the development of placenta during pregnancy

A

Male

50
Q

Autosomal traits that are influenced by sex

A

Sex-influenced traits

51
Q

If a male has one recessive allele (in the context of sex-influenced traits), will the trait show?

A

Yes

52
Q

If a female has one recessive allele (in the context of sex-influenced traits), will the trait show?

A

No (must be two)

53
Q

A genotype that causes death

A

Lethal genotype

54
Q

An example of lethal genotype which has a distinct phenotype of a long trunk, short limbs, and a large head bearing a flat face

A

Achondroplastic dwarfism

55
Q

Achondroplastic dwarfism is an autosomal dominant trait, but is most often the result of a ___

A

Spontaneous (new) mutation

56
Q

Each child of two people with achondroplasia has a 1 in ___ chance of inheriting both mutant alleles

A

4

57
Q

Each child faces a ___ probability of having achondroplasia and a ___ probability of being of normal height

A

2/3
1/3

58
Q

Type of relationship between alleles, with a heterozygote phenotype intermediate between the two homozygote phenotypes

A

Incomplete Dominance

59
Q

T/F: in Tay-Sachs disease, the heterozygote is as healthy as the homozygous dominant

A

T

60
Q

Different alleles that are both expressed in a heterozygote are __

A

Codominant

61
Q

The ABO blood group system is based on the expression of ___

A

Codominant alleles

62
Q

Where one gene masks or otherwise affects the phenotype of another

A

Epistasis

63
Q

T/F: Epistasis is the interaction between different genes, not between the alleles of the same gene

A

T

64
Q

A gene that affects expression of another

A

Modifier gene

65
Q

Albinism is an example of ___

A

Epistatic interaction

66
Q

A blood type which illustrates epistasis, which results from an interaction between H and I gene that confers ABO blood type

A

Bombay phenotype

67
Q

In Bombay phenotype, the ___ gene controls the placement of a molecule to which antigens A and B attach on red blood cell surfaces

A

H

68
Q

A person of genotype ___ can’t make the molecule, so that A and B antigens cannot attach to red blood cell surfaces

A

hh

69
Q

Bombay phenotype is present in ___% of the population

A

0.004%

70
Q

Bombay phenotype is discovered in ___ and is named by ___

A

1952
Dr. Bhande et al.

71
Q

T/F: the Bombay phenotype can receive and donate to every blood group

A

F (can only receive from Bombay blood group)

72
Q

A single-gene disease with many symptoms, or a gene that controls several functions or has more than one effect

A

Pleiotropy

73
Q

An autosomal dominant condition which results to a defect in fibrillin

A

Marfan syndrome

74
Q

Causes lens dislocation, long limbs, spindly fingers, and a cave-in chest. Most serious symptom is a weakening in the aorta and bursting of it.

A

Marfan syndrome

75
Q

Mutations in different genes that produce the same phenotype

A

Genetic heterogeneity

76
Q

Can occur when genes encode enzymes or other proteins that are part of the same biochemical pathway, or when proteins affect the same body part

A

Genetic heterogeneity

77
Q

An environmentally caused trait that appears to be inherited

A

Phenocopy

78
Q

Trait that can either produce symptoms that resemble those of a known single-gene disease or mimic inheritance patterns by affecting certain relatives

A

Phenocopy

79
Q

Marfan syndrome is an example of ___

A

Pleiotropy

80
Q

Osteogenesis imperfecta is an example of ___

A

Genetic heterogeneity

81
Q

Bombay phenotype is an example of ___

A

Epistasis

82
Q

Familial hypercholesterolemia is an example of ___

A

Incomplete dominance

83
Q

Can be observed in carriers on both the molecular and whole-body levels

A

Incomplete dominance

84
Q

Thalidomide vs. Phocomelia is an example of ___

A

Phenocopies

85
Q

Genes that regulate organ development

A

Homeotic genes

86
Q

Genes that code for transcription factors

A

Homeobox genes

87
Q

Genes that determine the identities of each body segment

A

Hox genes

88
Q

Meant as a sleeping aid but prescribed to pregnant women to treat anxiety and nausea

A

Thalidomide

89
Q

This drug caused serious birth abnormalities for hundreds of children

A

Thalidomide

90
Q

Refers to the percentage of individuals who have a particular genotype who have the associated phenotype

A

Penetrance

91
Q

Refers to the variability in severity of a phenotype, or the extent to which the gene is expressed

A

Expressivity

92
Q

An allele combination that produces a phenotype in everyone who inherits it

A

Completely penetrant

93
Q

T/F: complete penetrance is rare

A

T

94
Q

T/F: Huntington disease is completely penetrant

A

F (almost)

95
Q

Gene causing Huntington’s disease

A

Huntingtin gene

96
Q

Level of CAG for complete penetrance in Huntington disease

A

40 or more CAG repeats

97
Q

Refers to the inheritance of a trait governed by more than one genes

A

Polygenic inheritance

98
Q

Type 2 diabetes mellitus is an example of ___ disorder

A

Polygenic

CTGN 1st Shift (8 decks)

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