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Fundamentals of Genetics (lec) > Non-Mendelian Genetics > Flashcards

Non-Mendelian Genetics Flashcards

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1
Q

What color of offspring would you get when you cross a pure (homozygous) red snapdragon with a pure white snapdragon?

A

Pink

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2
Q

Incomplete dominance can be seen in:

A

Horses (Chestnut x Cremello
→Palomino)

Snapdragons

Japanese Four O’ Clocks

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3
Q

Ratio for cross between heterozygous alleles

A

1:2:1

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4
Q

Codominance occurs in:

A

Shorthorn Cow (White + Red)
Blue Roosters (White + Black)
Human Blood Typing (AB)
Tabby Cats (Black and Tan Fur)

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5
Q

Can Tan Cat be heterozygous? Why or Why not?

A

No, because in order for the cat to be tan, it must contain the homozygous allele

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6
Q

If you mate a tabby with a black cat, what is the phenotypic ratio of their offspring?

A

1 black: 1 tabby
50% black, 50% tabby

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7
Q

If the offspring of two cats are composed of 36 tabbies and 40 black cats, what are the parental phenotypes and genotypes?

A

Using backcrossing
1:1
1 tabby, 1 black

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8
Q

What does Multiple Alleles Mean?

A

When a gene is controlled of many alleles

three or more different versions of a gene that exist in a population

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9
Q

A and B blood types are coded for by the alleles: IA and IB respectively. These two alleles are CODOMINANT.

Blood type O is coded for by the allele i and is recessive to both IA and IB (notice the lower case letter).

I designation stands for ___________, another term for antigen

A

isoagglutinogen

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10
Q

Could a man with AB blood have an AB child with a woman with type O blood?

A

No, since type O is recessive, the child will have either type A or type B

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11
Q

If a child has type B blood, what are all the possible blood types for his/her parents?

A

1.) AB x BB
2.) AB x ii
3.) BB x BB
4. BB x ii
5.) Bi x ii
6.) Bi x Ai
7.) AB x Ai
8.) BB x Ai
9.) AB x Bi
10.) BB x Bi
11.) Bi x Bi
12.) AB x AB

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12
Q

A paternity test is being performed. The child has type A blood. The mother is type A. Potential Dad #1 has type B blood. Potential Dad #2 has type O blood. Who is the father?

A

Either can be the father

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13
Q

Challenge: What two parents could produce the most diverse children as far as blood type is concerned?

A

Ai x Bii
4 possible blood type:
1. AB
2. Ai
3. Bi
4. ii

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14
Q

a situation in which a single phenotype is affected by more than one set of genes

A

gene interaction

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15
Q

Antisera against monkey

A

Rhesus macacca

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16
Q

The allele that occurs most frequently in a population, the one that we arbitrarily designate as normal

A

wild-type allele

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17
Q

contains modified genetic information and often specifies an altered gene product

A

mutant allele

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18
Q

loss-of-function mutation. If the loss is complete, the mutation has resulted in what is called a

A

null allele

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19
Q

mutations that enhance the function of the wild-type product

also provide an example:

A

gain-of-function mutations

Proto-oncogenes to oncogenes-> regulation of cell cycle is overriddenby excess gene product

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20
Q

mutations that create an allele that produces no detectable change in function

A

neutral mutations

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21
Q

homozygous recessive individuals are severely affected with a fatal lipid-storage disorder and neonates die during their first one to three years of life

A

Tay–Sachs disease

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22
Q

an enzyme normally involved in lipid metabolism

A

hexosaminidase A

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23
Q

whereby normal phenotypic expression occurs anytime a minimal level of gene product is attained

A

threshold effect

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24
Q

the joint expression of both alleles in a heterozygote is called

also provide an example:

A

codominance

MN blood group in humans illustrates this phenomenon

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25
Q

found on the surface of red blood cells that acts as a native antigen, providing biochemical and immunological identity to individuals

A

glycoprotein molecule

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26
Q

The MN system is under the control of a locus found on chromosome #

A

chromosome 4

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27
Q

When three or more alleles of the same gene—which we designate as __________—are present in a population, the resulting mode of inheritance may be unique

A

multiple alleles

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28
Q

The genes for A and B antigens are located on chromosome #

A

Chromosome 9

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29
Q

mode of inheritance in blood types

A

Codominance

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30
Q

Almost all individuals possess what is called the ________, to which one or two terminal sugars are added

A

H substance

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31
Q

Failure to produce the H substance results in the _______, in which individuals are type O regardless of the presence of an IA or IB allele

A

Bombay phenotype

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32
Q

_____ allele directs the addition of fucose to the H substance precursor

A

FUT1 allele

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33
Q

H substance itself contains three sugar molecules—

A

galactose (Gal)
N-acetylglucosamine (AcGluNH)
fucose

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34
Q

H Substance precursor

A

Gal—AcGluNH

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35
Q

The IA allele is responsible for an enzyme that can add the terminal sugar N-acetylgalactosamine (AcGalNH) to the H substance

A
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36
Q

The IB allele is responsible for a modified enzyme that can not add N-acetylgalactosamine, but instead can add a terminal galactose

A
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37
Q

type O (ii) cannot add either terminal sugar; these persons have only the H substance protruding from the surface of their red blood cells

A
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38
Q

the presence of just one copy of the allele results in the death of the individual

A

dominant lethal allele

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39
Q

due to a dominant autosomal allele H, where the onset of the disease in heterozygotes (Hh) is delayed, usually well into adulthood.

Affected individuals then undergo gradual nervous and motor degeneration until they die.

A

Huntington disease

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40
Q

the genes controlling each character are located on the same chromosome

A

genetic linkage

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41
Q

several genes influence a particular characteristic

A

gene interaction

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42
Q

each step of development increases the complexity of the organ or feature of interest and is under the control and influence of many genes

A

epigenesis

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43
Q

the expression of one gene masks or modifies the effect of a second gene

A

epistasis

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44
Q

________, where phenotypic categories are discrete and qualitatively different from one another

A

discontinuous variation

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45
Q

_________, occurs when a dominant allele at one genetic locus masks the expression of the alleles of a second locus

A

dominant epistasis

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46
Q

An analytical procedure called _______________ allows us to determine whether two independently isolated mutations are in the same gene—that is, whether they are alleles—or whether they represent mutations in separate genes

A

complementation analysis

47
Q

All mutations determined to be present in any single gene are said to fall into the same ____________, and they will complement mutations in all other groups

A

complementation group

48
Q

expression of a single gene has multiple phenotypic effects, is also quite common. This phenomenon, which often becomes apparent when phenotypes are examined carefully, is referred to as

A

pleiotropy

49
Q

__________, a human malady resulting from an autosomal dominant mutation in the gene encoding the connective tissue protein fibrillin

A

Marfan syndrome

ex: Abraham Lincoln

50
Q

phenotype associated with Marfan syndrome includes

A

lens dislocation
increased risk of aortic aneurysm
lengthened long bones in limbs

51
Q

human autosomal dominant disorder where afflicted individuals cannot adequately metabolize the porphyrin component of hemoglobin when this respiratory pigment is broken down as red blood cells are replaced.

The accumulation of excess porphyrins is immediately evident in the urine, which takes on a deep red color

A

porphyria variegata

52
Q

possession of only one copy of a gene in an otherwise diploid cell—is referred to as

A

hemizygosity

53
Q

___________, in which phenotypic traits controlled by recessive X-linked genes are passed from homozygous mothers to all sons

A

crisscross pattern of inheritance

54
Q

Human X-Linked Traits

A

Color blindness, deutan type
= Insensitivity to green light

G-6-PD deficiency
= Deficiency of glucose-6-phosphate dehydrogenase

Hemophilia A
= Classic form of clotting deficiency; deficiency of clotting factor VIII

Hemophilia B
= Christmas disease; deficiency of clotting factor IX

Lesch–Nyhan syndrome
= Deficiency of hypoxanthine-guanine phosphoribosyl transferase enzyme (HPRT) leading to motor and mental retardation, self-mutilation, and early death

Duchenne muscular dystrophy
= Progressive, life-shortening disorder characterized by muscle degeneration and weakness; deficiency of the protein dystrophin

55
Q

heterozygous genotype may exhibit one phenotype in males and the contrasting one in females

Inheritance of these phenotypes is controlled by a single pair of autosomal alleles whose expression is modified by the individual’s sex hormones.

A

sex-limited inheritance

56
Q

The percentage of individuals that show at least some degree of expression of a mutant genotype defines the __________of the mutation

A

penetrance

57
Q

_________ reflects the range of expression of the mutant genotype

A

expressivity

58
Q

if a region of a chromosome is relocated or rearranged

A

translocation or inversion event

59
Q

certain areas of the chromosome that are condensed and genetically inert

A

heterochromatin

60
Q

mutations that prevent synthesis of nutrient molecules, such as when an enzyme essential to a biosynthetic pathway becomes inactive

A

auxotroph

61
Q

those afflicted with the genetic disorder ________cannot metabolize the amino acid phenylalanine

A

phenylketonuria (PKU)

62
Q

__________ cannot metabolize galactose

A

galactosemia

63
Q

_______ cannot metabolize lactose

A

lactose intolerance

64
Q

____________, inherited as an X linked recessive disease, is characterized by abnormal nucleic acid metabolism (inability to salvage nitrogenous purine bases), leading to the accumulation of uric acid in blood and tissues, mental retardation, palsy, and self-mutilation of the lips and fingers

A

Lesch–Nyhan syndrome

65
Q

________,an X-linked recessive disorder associated with progressive muscular wasting

A

Duchenne muscular dystrophy (DMD)

66
Q

Inherited as an autosomal dominant disorder, _________ affects the frontal lobes of the cerebral cortex, where progressive cell death occurs over a period of more than a decade. Brain deterioration is accompanied by spastic uncontrolled movements, intellectual deterioration, and ultimately death

A

Huntington disease

67
Q

heritable disorders that exhibit a progressively earlier age of onset and an increased severity of the disorder in each successive generation

A

genetic anticipation

68
Q

_________ the most common type of adult muscular dystrophy, clearly illustrates genetic anticipation.

A

Myotonic dystrophy (DM1)

69
Q

muscle hyperexcitability

A

myotonia

70
Q

human traits are shaped overwhelmingly by our social and cultural environments

A

the blank-slate hypothesis

71
Q

a rare pregnancy complication that occurs when a pregnant person’s immune system attacks the fetus’s red blood cells

A

Erythroblastosis fetalis

72
Q

injection used to prevent Rh incompatibility from developing during pregnancy. The shot contains antibodies (collected from plasma donors) that stop your immune system from reacting to your baby’s Rh positive blood cells

A

RhoGAM shot

73
Q

Also known as antibody D

A

RhoGAM

74
Q

In chickens, when am embryo contains two copies of the receive gene known as ________, the embryo dies inside the eggshell

A

Creeper

75
Q

Are the first 22 homologous pairs of human chromosomes that do not influence the sex of an individual

A

Autosomes

76
Q

Are the 23rd pair of chromosomes that determine the sex of an individual

A

Sex chromosomes

77
Q
  • Serious anemia or breakdown of RBC among newly born fetuses
A

Erythroblastosis fetalis

78
Q

examples of condition for lethal genes

A
  • Achondroplasia, cystic fibrosis, sickle-cell anemia (recessive lethal)
  • Huntington’s disease (dominant lethal)
79
Q

is the type of zygosity in which only 1 of the allele is present for a gene

A

Hemizygous

80
Q

is the type of zygosity in which both alleles are the same for a gene

A

homozygosity

81
Q

a condensed, inactive X chromosome that is found in the nuclei of female somatic cells

A

Barr body

82
Q

Sex linked trait, X-linked trait, or Y-linked trait:

  • The gene (pair) that determines a character (e.g. hemophilia) is located on the sex chromosomes
A

Sex linked trait

83
Q

Sex linked trait, X-linked trait, or Y-linked trait:

  • A sex-linked trait is where the gene or allele for the trait is found on the X chromosome
A

X-linked trait

84
Q

Sex linked trait, X-linked trait, or Y-linked trait:

  • A sex-linked trait where the gene or allele for the trait is found on the Y- chromosome
A

Y-linked trait

85
Q
  • An X-linked recessive trait where a affected individual could not distinguish red from green color
A

Color blindness

86
Q
  • An X-linked recessive trait where an affected individual suffers from delayed blood clotting during injuries because of the absence of certain blood clotting factors
A

Hemophilia

87
Q
  • A Y-linked trait where affected males have hair growing from their external ears
A

Hypertrichosis pinnae auris

88
Q

X-LINKED RECESSIVE DISORDERS

A

“Oblivious Female Will Give Her Boys X-linked Disorders”

Ocular albinism
Fabry disease
Wiskott-Aldrich syndrome
G6PD deficiency
Hunter syndrome
Bruton agammaglobulinemia
Hemophilia A/B
Lesch-Nyhan syndrome
Duchenne muscular dystrophy

89
Q

a chart used to test for color-blindness

A

Ishihara color-blindness chart

90
Q

Rare, X-linked dominant trait
Found in a single multigenerational
Mexican family

Human Werewolf Syndrome

A

Congenital generalized hypertrichosis (CGH)

91
Q

Insensitivity to green light

A

Color blindness, deutan type

92
Q

Insensitivity to red light

A

Color blindness, protan type

93
Q

Deficiency of galactosidase A; heart and kidney defects, early death

A

Fabry’s disease

94
Q

Deficiency of glucose-6-phosphate dehydrogenase; severe anemic reaction following intake of primaquines in drugs and certain foods, including fava beans

A

G-6-PD deficiency

95
Q

Classic form of clotting deficiency of clotting factor VIII

A

Hemophilia A

96
Q

Christmas disease; deficiency of clotting factor IX

A

Hemophilia B

97
Q

Mucopolysaccharide storage disease resulting from iduronate sulfatase enzyme deficiency; short stature, claw-like fingers, coarse facial feature, slow mental deterioration, and deafness

A

Hunter syndrome

98
Q

Deficiency of steroid sulfatase enzyme; scaly dry skin, particularly on extremities

A

Icthyosis

99
Q

Deficiency of hypoxanthine-guanine phosphoribosyltransferase enzyme (HPRT) leading to motor and mental retardation, self-mutilation, and early death

A

Lesch-Nyhan syndrome

100
Q

Progressive, life-shortening disorder characterized by muscle degeneration and weakness; sometimes associated with mental retardation; deficiency of the protein dystrophin

A

Duchenne muscular dystrophy

101
Q

*are determined by autosomal genes and are inherited according to Mendel’s principles, but they are expressed differently in males and females

A

Sex influenced characteristics

102
Q

*extreme form of sex-influenced inheritance, a sex limited characteristic is encoded by autosomal genes that are expressed in only one sex—the trait has zero penetrance in the other sex

A

Sex- Limited Characteristics

103
Q

mutation causes the diminution or the loss of the specific wild-type function

A

loss-of-function mutation

104
Q

what is the threshold in Tay-Sachs disease

A

less than 50%

105
Q

homozygous recessive individuals will not survive

A

recessive lethal allele

106
Q

Example of a heterogenous trait where many genes “interact” to produce a common
phenotype

A

Hereditary deafness

107
Q

Identify the type of epistasis:

9:3:3:1

A

Collaboration (Multiple genes)

108
Q

Identify the type of epistasis:

9:3:4

A

Single Recessive Epistasis

109
Q

Identify the type of epistasis:

12:3:1

A

Single Dominant Epistasis

110
Q

Identify the type of epistasis:

9:7

A

Duplicate Recessive Epistasis

111
Q

Identify the type of epistasis:

9:6:1

A

Duplicate ‘ Recessive

112
Q

Identify the type of epistasis:

15:1

A

Duplicate Dominant Epistasis

113
Q

developing bipolar disorder is given as 69 percent due to genetics and 32 percent due to environmental factor

eating disorder is approximately 40 percent due to genetics and 60 percent due to environmental conditions

A

Fundamentals of Genetics (lec) (13 decks)

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