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Spring 2023 Classes > Genetics Test #3 > Flashcards

Genetics Test #3 Flashcards

1
Q

Fingerprints are also called

A

epidermal ridges or dermatoglyphic patters (fully formed by 17th week of pregnacy)

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2
Q

Who is Francis Galton?

A

-no two individuals have the same fingerprints
-fingerprints of relatives are more similar than unrelated people

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3
Q

What is ADG?

A

-adermatoglyphia
-due to mutation that interferes w/ epidermal ridge formation

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4
Q

Squares on pedigree represent

A

males

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5
Q

Circles on pedigree represent

A

females

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6
Q

Colored squares and circles represent

A

persons affect w/ trait

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7
Q

Standard symbols used in pedigree analysis

A

pg. 151; 6.2 and on PPT

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8
Q

Geneticists use pedigrees to

A

study the inheritance of characteristics in humans

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9
Q

What is a pedigree?

A

pictorial representation of a family history;; a family tree that outlines the inheritance of one or more characteristics

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10
Q

What is Proband?

A

the person from whom the pedigree is initiated (first affected family member)

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11
Q

What is Waardenburg Syndrome?

A

-autosomal dominant trait
-characterized by deafness, fair skin, visual problems, and white forelock

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12
Q

Children in each family are listed

A

left to right in birth order

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13
Q

What are autosomal recessive traits?

A

normally appear with equal frequency in both sexes and seem to skip generations

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14
Q

What is consanguinity?

A

mating between related people (indicated w/ two dashes)

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15
Q

Example of autosomal recessive traits

A

Tay-Sachs Disease

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16
Q

What is Tay-Sach’s Disease

A

-a recessive lysosomal storage disorder that results in the impairment of neurologic function due to the lack of an enzyme to break down a lipid that accumulates in the brain
-heterozygotes produce half the amount of that enzyme, but can break down the lipid, therefore healthy

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17
Q

Autosomal recessive traits often appear in pedigrees in which there have been consanguine mating because these traits

A

appear only when both parents carry a copy of the gene for the trait, which is more likely when the parents are related

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18
Q

X linkage

A

can be x-linked dominant or x-linked recessive

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19
Q

Males are usually

A

hemizygous (one x chromosome)

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20
Q

What are autosomal dominant traits?

A

appear with equal frequency in both sexes and do not skip generations
-unaffected people do not transmit the trait…affected people have at least one affected parent

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21
Q

Example of an autosomal dominant trait.

A

familial hypercholesterolemia

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22
Q

What is familial hypercholesterolemia?

A

-blood cholesterol is greatly elevated
-defect in LDL receptor

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23
Q

What are X-Linked Recessive Traits?

A

appear more often in males than in females
-passed to sons from mothers

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24
Q

Example of X-Linked recessive trait.

A

X-linked hemophilia

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25
Q

What is an X-linked dominant trait?

A

-affects both males and females
-an affected male must have an affected mother

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26
Q

How are X-linked dominant traits passed on?

A

-affected males pass the trait on to all their daughter and non of their sons
-affected females (if heterozygous) pass the trait on to about half of their sons and half of their daughters

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27
Q

Example of an X-linked dominant trait.

A

X-linked hypophosphatemia

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28
Q

What is X-linked hypophosphatemia?

A

defective transport of phosphates, especially in kidney cells (short stature, tooth abscesses, bone and joint pain, etc.)

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29
Q

A male affected with an X-linked dominant trait will have what proportion of offspring affected with the trait?

A

all daughters and no sons

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30
Q

What are Y-linked traits?

A

-appear only in males and are passed from a father to all his sons
-do not skip generations

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31
Q

Genetic Mosaicism (or chimeras)

A

different cells of the body have different genetic constitutions

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32
Q

How does genetic mosaicism develop?

A

-error occurs early during mitosis
-variation present in large number of cells in the body

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33
Q

Studying twins and adoptions can help access the importance of

A

genes and environment

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34
Q

What are monozygotic twins?

A

identical twins

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35
Q

What are dizygotic twins?

A

non-identical (fraternal) twins

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36
Q

What is a concordant trait?

A

the trait shared by both members of a twin pair

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37
Q

What is concordance?

A

-amount of similarity
-percentage of twin pairs that are concordant for a trait

38
Q

Why are monozygotic twins genetically identical, whereas dizygotic twins share only 50% of their genes on average?

A

monozygotic twins develop from a single egg fertilized by a single sperm, whereas dizygotic twins develop from two eggs fertilized by two different sperm

39
Q

Adoption studies demonstrate that obesity has a

A

genetic influence

40
Q

Genetic factors influence

A

body mass index

41
Q

Dogs are a natural system for investigating the

A

genetics of complex traits

42
Q

The breed ancestry of individual dogs is assumed to be predictive of

A

temperament and behavior

43
Q

Genetic Variation explains more than

A

25% of the variation in human sociability, motor patterns, and physical traits

44
Q

Biddability

A

how readily dog responds to human direction

45
Q

Behavioral characteristic ascribed to modern breeds of dogs are

A

polygenic, environmentally influenced, and found, at varying prevalence

46
Q

1st Law (Principle of Segregation)

A

alleles separate during meiosis during gamete formation

47
Q

2nd Law (Independent Assortment)

A

alleles at one locus sort independently from alleles at other locus

48
Q

Recombination

A

alleles sort into new combinations

49
Q

Through recombination…

A

gametes contain new combinations of alleles

50
Q

Linked genes

A

do not assort independently

51
Q

Linked Genes

A

traits that are inherited together because genes are located close together on the same chromosome

52
Q

Linked genes belong to the

A

same linkage group (are physically coupled)

53
Q

Linked genes segregate together and crossing over produces

A

recombination between them

54
Q

Complete Linkage

A

leads to non-recombinant gametes and non-recombinant progeny

55
Q

Crossing over with linked genes leads to

A

recombinant gametes and recombinant progeny

56
Q

If crossing over occurs between two normally linked loci

A

they will sort independently

57
Q

With complete linkage only

A

non-recombinant progeny are formed

58
Q

With independent assortment

A

half progeny is recombinant

59
Q

If no crossing over takes place

A

each gamete receives a non-recombinant chromosome with an original combination of alleles

60
Q

A crossover may take place in Prophase I

A

half the gametes will have an unchanged chromosome (non-recombinant) and half will have a recombinant chromosome

61
Q

If crossing over does not occur, at the end of meiosis II, there will be

A

four linked/non-recombinant chromatids (linkage)

62
Q

If crossing over occurs, at the end of meiosis II, there will be

A

two linked and two recombinant chromatids (recombination)

63
Q

In performing a dihybrid cross, you expect to see a
9:3:3:1 ratio. What is a good explanation if you do NOT
see a 9:3:3:1 ratio in a dihybrid cross?

A

the two genes are linked

64
Q

For single crossovers, the frequency of recombinant
gametes is half the frequency of crossing over because

A

each crossover takes place between only two of the
four chromatids of a homologous pair

65
Q

Recombination frequency (or rate of recombination)

A

percentage of recombinant progeny produced in a cross

66
Q

How to calculate recombination frequency?

A

number of recombinant progeny/total number of progeny X 100%

67
Q
A
68
Q

From the cross AB/ab×ab/ab, what is the recombination frequency if the progeny numbers are
72 AB/ab, 68 ab/ab, 17 Ab/ab, and 21 aB/ab?

A

0.213

69
Q

In crosses for linked genes, the arrangement of alleles

A

on the homologous chromosomes is critical in determining the outcome of the cross

70
Q

Coupling Configuration of Linked Genes (cis configuration)

A

wild-type alleles are found on one chromosome; mutant alleles are found on the other chromosome

71
Q

Repulsion Configuration of Linked Genes (trans configuration)

A

wild-type allele and mutant alleles are found on the same chromosome

72
Q

Inheritance of two genes in the Australian Blowfly

A

one locus determines color of thorax, and another determines color of puparium

73
Q

Since genes are linked, there are

A

two possible arrangements on the chromosomes of the heterozygous fly

74
Q

The phenotypes of the offspring are the same, but

A

their number differ, depending on whether alleles are in coupling or repulsion

75
Q

Recombination frequency is the

A

total proportion of recombinant gametes

76
Q

Predicted frequency of progeny is obtained by

A

multiplying the frequencies of the gametes

77
Q

Genomics

A

the study of entire genomes, including the
complete set of genes, their nucleotide sequence and
organization, and their interactions within a species and with other species

78
Q

Genome Mapping

A

the process of finding the locations of genes on each chromosome

79
Q

Genetic Map

A

an illustration that lists genes and their location on a chromosome
calculated using recombinant frequencies

80
Q

Genetic Markers

A

a gene or sequence on a chromosome that co-segregates (show a genetic linkage) with a specific trait…a.k.a linkage analysis

81
Q

Physical maps

A

present the intimate details of smaller regions of the chromosomes
representation of the physical distance, in nucleotides, between genes and genetic markers

82
Q

Gene mapping is done with

A

recombination frequencies (1 map unit = 1 centiMorgan = 1% recombination frequency)

83
Q

What is the most likely order of the linked genes R, S,
and T if the distance between R and S is 22 m.u., the
distance between S and T is 8 m.u., and the distance
between R and T is 14 m.u.?

A

STR

84
Q

If pedigree studies show a high incidence of cooccurrence of traits,

A

those genes will be located close together on a genetic map

85
Q

on the garden pea, it was discovered that the color of the flower and shape of the plant’s pollen

A

were linked traits

86
Q

The genes encoding these garden pea traits were

A

in close proximity on the same chromosome

87
Q

Linked genes

A

do not assort independently

88
Q

The greater the distance between two genes

A

the higher the chance that a recombination event will occur between them, and the higher the recombination frequency between them

89
Q

If the recombination frequency between two genes is less than 50 percent

A

the genes are linked

90
Q

genetic maps rely completely on the natural process
of recombination causing

A

mapping to be affected by natural increases or
decreases in the level of recombination

91
Q

A two-strand double crossover between two linked genes produces

A

only non-recombinant gametes

Spring 2023 Classes (13 decks)

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