Genetics Exam 1 Flashcards

1
Q

Which organisms has characteristics that make them useful for genetic analysis

A

Model genetic organism

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2
Q

What are the fundamental unit of heredity

A

Genes

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3
Q

Genes come in multiple form called

A

Alleles

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4
Q

Genetic information is carried in

A

DNA and RNA

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5
Q

Where are genes located

A

on chromosomes

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6
Q

How do chromosomes seperate

A

mitosis and meiosis

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7
Q

Some traits are affected by multiple factors. True/false

A

true

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8
Q

genes are known to be defined as

A

DNA sequences

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9
Q

What are long molecules of double stranded DNA and protein which contain genes

A

Chromosomes

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10
Q

Two of each chromosomes are called

A

Homologs

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11
Q

Whatis a similarity of mitosis and meoisis in terms of chromosomes

A

chromosomes are both copied and distributed

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12
Q

The two resulting daugter cells from Mitosis are called

A

Diploid

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13
Q

The resulting chromosomes from Meiosis are called

A

Haploid cells

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14
Q

The resulting gametes in meoisis receive how many chromosomes

A

half the number of chromosomes

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15
Q

The hereditary material in chromosomes is called

A

DNA

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16
Q

Which scientyist brought the idea of double helix

A

Watson and Crick

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17
Q

Where are the sugar phosphate backbones located

A

on the outside

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18
Q

What are the characteristics of Automosomal recessive trait

A
  1. Usually appears in both sex with equal frequency
  2. tend to skip generations
  3. Affected offspring are usually born to unaffected parents
  4. When both parents are hetero, approximately 1/4 children are affected
  5. appears more frequently with children of consanguineous marriages
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19
Q

Mating between related person is called

A

Consanguinity

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20
Q

The person from whom the pedigree is initiated is known as

A

Proband

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21
Q

Characteristics of autosomal dominant

A
  1. Unaffected parents do not transmit the trait
  2. Both sexes transmit the trait to the offspring
  3. Does not skip generation
  4. Affected offspring must have affected parents unless they possess new mutation
  5. when one parent is affected and the other is unaffected, approximately half of the offspring will be affected
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22
Q

Characteristics of X-linked recessive trait

A
  1. usually affects more males than females
  2. Affected sons are usually born to unaffected mothers, so skips generations
  3. Approximately half of a carrier (heterozygous) mother’s sons are affected.
  4. Never pass from father to son
  5. All daughters of affected fathers are carriers.
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23
Q

Characteristics of X-linked Dominant Trait

A
  1. Both males and females affected, mostly females
  2. Does not skip generation so affected sons must have affected mothers, affected daughter has affected mother or affected father
  3. Affected fathers pass the trait to all their daughter
  4. Affected mothers (hetero) pass trait to half daughter or half sons
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24
Q

Characteristics of Y-linked trait

A
  1. only males are affected
  2. Passed from father to all sons
  3. Does not skip generations
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25
Q

Dizygotic twins means

A

nonidentical twins

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26
Q

Monozygotic twins means

A

identical twins

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27
Q

when a trait is chared by both members of a twin pair, it is called

A

concordant trait

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28
Q

What is the key difference between Amniocentesis and Chorionic villus sampling

A

There is no culturing required in CVS

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29
Q

Describe amniocentesis

A
  1. A sterile needle is inserted into the AMNIOTIC SAC using ultrasound
  2. A small amount of amniotic fluid is withdrawn through the needle
    3.Amniotic fluid contains fetal cells which are separated from the fluid
  3. and cultured
  4. then tests are performed on the cells
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30
Q

Describe CVS

A
  1. CVS can be performed early in pregnancy
  2. A catheter is inserted through vagina and cervix into uterus
  3. it is placed in contact with chorion, outer layer of placenta
  4. Suction removes a small piece of chorion
  5. cells of chorion used for genetic test and no culturing required
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31
Q

Genes at the same locus or two version of the same gene with each version of same gene is defined as

A

allele

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32
Q

Types of dominance

A

Complete
Incomplete
Codominance

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33
Q

When a phenotype of heterozygote falls in between or can be distinguished from either homozygotes. This is called

A

Incomplete dominance

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34
Q

Heterozygotes include phenotypes of both homozygotes. this is called

A

Codominance

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35
Q

The percentage of individuals having a particular genotype that express the expected phenotype

A

Penetrance

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36
Q

The degree to which a trait is expressed is called

A

Expressivity

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37
Q

Which allele causes death at an early stage of development, so some genotypes may not appear

A

Lethal allele

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38
Q

A lethat allele affects genotypic and phenotypic ratio to

A

2:1 instead of 3:1

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39
Q

The AY mutation is caused by a deletion that affects which 2 genes

A

Agouti and Raly

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40
Q

This gene produces protein essential for mouse development

A

Raly

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41
Q

The deletion of Raly gene does what

A

connects the Raly promoter to the Agouti gene which leads to excess yellow pigment in heterozygotes and death in homozygotes

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42
Q

Huntington Disease (HD) is what type of allele

A

Dominant lethal allele, abnormalities not expressed until after individual has reproduced

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43
Q

Around what age does HD usually show up

A

late 30s or 40s

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44
Q

For a given locus, having more than two alleles are present within a group of individuals is called

A

Multiple alleles

45
Q

Which blood type is known as a universal donor

A

O

46
Q

Which blood type is known as a universal recipicient

A

AB

47
Q

effects of genes at one locus depend on the presence of genes at the other loci is called

A

Gene interaction

48
Q

The interaction of genes that are not alleles, in particular the suppression of the effect of one such gene by another

A

Epistasis

49
Q

Which gene does the masking

A

Epistatic

50
Q

which gene is masked

A

hypostatic gene

51
Q

what is the ratio for recessive epitasis

A

9:3:4

52
Q

what is the ratio for dominant epitasis

A

12:3:1

53
Q

what is the alteration of multiple distinct traits by a mutation in a single gene called

A

Pleiotropy

54
Q

Mitochonodria are inherited from who

A

the mother

55
Q

Males are heterogametic because

A

the produce 2 different types of gametes

56
Q

Females are homogametic because

A

they produce one type of gamete

57
Q

The SRY gene on Y chromosomes determines

A

maleness

58
Q

What is the turner syndrome

A

XO 1/3000 female births, underdeveloped secoindary sex characteristic

59
Q

What is klinefelter syndrome

A

XXY, 1/1000 male births, small testes, facial and public hair

60
Q

Describe poly-X females

A

1/1000 femal biorths, no distinctive feature tedn to be tall and thin

61
Q

XXY males

A

tend to several inches taller than XY males

62
Q

Color blindness is which trait

A

X-linked

63
Q

Males have only one copy of the gene making them

A

hemizygous

64
Q

Barr bodies are

A

inactivated X chromosomes

65
Q

Genes found in the pseudoautosomal regions of the X and Y chromosome behave as
a
sex-linked traits.

b
autosomal traits.

c
hemizygous alleles.

A

Autosomes

66
Q

The SRY gene is on the _ chromosome and it encodes a _ required for the male phenotype

a
Y, transcription factor

b
Y, Serum Response factor

c
X, transcription factor

d
X, Serum Response factor

A

a
Y, transcription factor

67
Q

Dihybrid gene gives you how many punett square

A

16

68
Q

How do u do trihybrid cross

A

fork-line diagram

69
Q

Which law states that during gamete foremation the e segregation of alleles at one locus is independent of segregation at another locus

A

Independent assortment

70
Q

Whne does independent assortment not apply

A

when two loci are linked on the same chromosme

71
Q

specific place on a chromosome occupied by an allele

A

Locus

72
Q

set of allele possesed by an individual organism

A

genotype

73
Q

an individual organism possessing two different alleles at a locus

A

heterozygote

74
Q

an individual organism possessing two of the same alleles at a locus

A

homozygote

75
Q

the appearnace or manifestation of a characteristic

A

Phenotype or trait

76
Q

the hypothesis that chance alone is responsible for a deviation between observed and expected values

A

null hypothesis

77
Q

What is the Chi-squared test used for

A

for quantifying how closely an experimental observation mathes the expected outcome

78
Q

What happens in the G1 phase

A

cell grows

79
Q

What happens in the S phase

A

dna duplicates

80
Q

What happens in the G2 phase

A

cell prepares for mitosis

81
Q

What happens in the M phase

A

mitosis and cytokinesis (cell division)

82
Q

In which phase of mitosis is the nuclear membrane present and chromosomes are relaxed

A

Interphase

83
Q

In which phase of mitosis does chromosomes condense, chromosomes posses two chromatids and mitotic spindle form

A

Prophase

84
Q

In which phase of mitosis do nuclear membrane disintegrates and the spindle microtubules attach to chromatids

A

Prometaphase

85
Q

In which phase of mitosis do chromosomes line up on the plate

A

metaphase

86
Q

which phase of mitosis Sister chromatids seperate towards opposite poles

A

Anaphase

87
Q

In which phase of itosis has chromosomes arrived at spindle poles and nuclear membrane reforms

A

Telophase

88
Q

The production of haploid gametes is known as

A

Meiosis

89
Q

Fusion of haploid gametes is

A

fertilization

90
Q

cinsequences of meiosis

A

genetic variation

91
Q

In which phase does DNA synthesis and chromosome replication take place

A

interphase of meoisis

92
Q

Which phase of does separation of homologous chromosomes pairs, and reduction of the chromosomes number by half take place

A

Meiosis I

93
Q

which phase in meoisis is the seperation of sister chromatids

A

meiosis II

94
Q

In what phase does pAIRING AND RECOMBINATION OF HOMOLGS take place

A

Prophase I

95
Q

close pairing of homologous chromosomes is known as

A

synapsis

96
Q

closely associated four sister chromatids of two homologs chromosomes is called

A

tetrad

97
Q

Exchange of genetic infomation where the first mechanism of generating genetic variation in newly formed is called

A

crossing over

98
Q

What happens in leptonema

A

chromosomes appear as long, single threads, homologs search

99
Q

What happens in zygonema

A

a bivalent chromosome is formed, each pair of homologous chromosomes

100
Q

Which stage doe sbivakent becoem shorter and thicker becoming tetrads

A

Pachynema

101
Q

Where is chiasma formed and sister chromatids separates within tetrads

A

diplonema

102
Q

where is centromeres attached to spindle fibers and nucleus and nuclear envelope break down

A

diakinesis

103
Q

In meoisis I, when is crossing over complete

A

Metaphase I

104
Q

Meiosis I is ca,led eductional division because

A

ploidy of daughter cells is halved

105
Q

Difference in Meoisis I and meoisis II in metaphase

A

Meiosis I homologous pair of chromosomes align on metaphase plate
Meosis II individual chromosomes align

106
Q

Primary spermatocyte undergoes——– to produce 2 secondary spermatocyte

A

meiosis I

107
Q

HOw does spermatocytes oroduce 4 haploid spermatids

A

meiosis II

108
Q

In oogenesis do all 4 daughter cells receive equla cytoplasm

A

nope, only one daughter cell receives cytoplasm and the rest are polar bodies