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BSCI 160 Shofner > Midterm 1 > Flashcards

Midterm 1 Flashcards

Exam study material

1
Q

Epigenetic inheritance

A

The transmission of non-dna sequence information through meiosis or mitosis.

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2
Q

Dna methylation patterns

A

Longest studied and best understood epigenetic markers

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3
Q

What does epigenetic inheritance specifically do

A

Allows for a rapid mechanism by which an organism can respond to the environment without changing its entire hardware

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4
Q

Genomic imprinting

A

Relative silencing on one parental allele compared with the other parental allele

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5
Q

How are genes silenced with genomic imprinting

A

Through the addition of methyl groups during egg or sperm formation

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6
Q

Boveri and Sutton

A

Declared that genes are located on chromosomes

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7
Q

Autosomal

A

Human cells (22 pairs). Same genes on both homologous chromosomes

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8
Q

Sex chromosomes in humans

A

female: xx
male: xy

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9
Q

Who determines the gender?

A

Males

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10
Q

Where are x-linked chromosomes carried?

A

On the x chromosome

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11
Q

Thomas Hunt Morgan

A

Looked for a relationship between gender and traits. Observed fruit fly eye color. He found that some traits are inherited as a group

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12
Q

Linkage

A

Tendency of genes on the same chromosome to end up together in the same gamete.

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13
Q

The closer 2 genes are together….

A

….the less likely they are to cross over

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14
Q

Linkage

A

Linked genes are inherited together and are close together on the chromosome.

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15
Q

Which law disrupts linkage?

A

Mendel’s law of independent assortment

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16
Q

What does the size of the Y limit?

A

The size of the Y limits the number of genes

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17
Q

“Porcupine men” - which chromosome is it on?

A

It is carried on the Y chromosome. This disorder causes the skin to be covered with rough scales and inch long bristles.

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18
Q

Color blindness (X linked recessive)

A

X-linked recessive.

Makes red or green hard to see

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19
Q

Duchenne Muscular Dystrophy (X linked recessive)

A

Duchenne: absense of protein required for blood clotting.
The muscles begin to waste away to nothing.
Lethal by the age of 20

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20
Q

Hemophilia (X linked recessive)

A

Absence of a protein that is required for blood clotting. This leads to bleeding

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21
Q

Ichthyosis (X linked recessive)

A

Severely scaly skin. This is a steroid sulfatase deficinecy

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22
Q

Menkes (X linked recessive)

A

Cells are not able to absorb copper. The insufficient copper levels can affect the structure of the bone, skin, and blood vessels. This help interfere with nerve function.
Babies are born with white/kinked hair: Death in infancy or by 1st decade with supplements

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23
Q

Lesch-nyhan (X linked recessive)

A

Neurological and behavioral abnormalities + overproduction of uric acid.
Uric acid: Waste product of normal chemical processes. This is found in the blood and urine
Mutations of the HPRTI gene cause this disorder

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24
Q

Fragile x syndrome

A

Due to genomic imprinting. Most common in males

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25
Q

Do offspring inherit phenotypes or genes?

A

Genes

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26
Q

What is the leading cause of variation?

A

Mutations

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27
Q

Mutations

A
  • Errors in repairs or synthesis
  • Damage caused by x rays or chemicals
  • Errors in meiosis
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28
Q

Point Mutations

A

Mistakes made at one location on the DNA

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29
Q

What are the 4 types of point mutations?

A
  1. Silent
  2. Missense
  3. Nonsense
  4. Frameshift
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30
Q

Silent Mutations

A

Codes for the same amino acid (neutral)

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31
Q

Missense mutations

A

Code for the wrong amino acid

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32
Q

What mutation causes sickle cell anemia

A

Missense mutations

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33
Q

Nonsense

A

Prematurely stop translation
THE FAT CAT ATE ____
Leads to nonfunctional proteins
Ex: Duchenne’s and cystic fibrosis

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34
Q

Frameshift

A

Insertion or deletion of one nucleotide
Often have major affects
Ex: Tay sachs

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35
Q

What are the 4 types of chromosomal rearrangements

A
  1. Inversion
  2. Deletion
  3. Duplication
  4. Translocation
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36
Q

Inversion

A

A segment in a chromosome is taken apart, reversed, and then rejoined again

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37
Q

Deletion

A

A segment in a chromosome that is lost/deleted

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38
Q

Duplication

A

A repeating segment of a chromosome that is repeated more than once in the same chromosome

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39
Q

Translocation

A

Occurs the most often during chromosomal rearrangements. When part of a chromosome is transferred to another chromosome

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40
Q

SRY gene

A

Males with SRY positive: XX male syndrome look like and identify as males. They have normal male physical features but they are infertile. This is because they lack the other genes on the Y chromosome that involve the making of sperm

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41
Q

Huntington’s Disorder

A

No symptoms before the age of 35 and is lethal.

  • The more CAG duplications, the more severe this disorder will be.
  • This is a dominant disorder and does not skip generations.
  • There is an abnormal protein that beings to kill brain cells and causes intense symptoms
42
Q

Epigenetics: X chromosome inactivation

A

Enables men and women to have equal expression of the genes carried on the x chromosome, even though women have 2 copies
- Ensures that only one copy of the x chromosome gene in the female is active and used by the cell.

43
Q

What is an inactivated x chromosome called?

A

Barr body

44
Q

Barr body

A

A condensed, inactive x chromosome. The inactive x usually lies along the edge of the interphase nucleus in a highly condensed state.

45
Q

When is a barr body formed

A

During the interphase in somatic cells

46
Q

How to calculate the number of barr bodies

A

N-1…n = # chromosomes
Two chromosomes = 1 barr body
Three chromosomes = 2 barr bodies

47
Q

2 ways the number of chromosomes can change?

A
  1. Aneuploidy

2. Polyploidy

48
Q

Aneuploidy

A

Any abnormal number of chromsomes

49
Q

Monosomy

A

Missing one chromosome (2n-1)

50
Q

Trisomy

A

One extra chromosome (2n+1)

51
Q

Polyploidy

A

More than two pairs of chromosomes

52
Q

Sex chromosome abnormalities occurring during meiosis/gamete formation are due to…

A

Non-disjunction

53
Q

Non-disjunction

A

Members of a pair of homologous chromosomes do not move apart properly during meiosis I.
OR
Sister chromosomes fail to separate during meiosis II. One gamete receives 2 of the same type of chromosome or none.

54
Q

Disorders caused by non disjunction

A
  1. Down syndrome
  2. Turner syndrome
  3. Klinefelter syndrome
  4. Aneuploidy
55
Q

The allele that is expressed

A

Dominant

56
Q

The allele that is not expressent

A

Recessive

57
Q

Incomplete dominance

A

Incompletely expressed as phenotype

58
Q

Inheritance

A

Each individual has two alleles per gene. One from the mother and one from the father.

59
Q

Homozygous

A

RR or rr

60
Q

Heterozygous

A

Rr

61
Q

Mendel

A

Began the modern understanding of inheritance.

Said that meiosis leads to heterozygous alleles

62
Q

What experiment did Mendel do?

A

He worked with flowers and did the breeding experiments to see how the different generations turn out

63
Q

Mendel’s Laws of inheritance

A
  1. Law of segregation

2. Law of independent Assortment

64
Q

Law of segregation

A

Alleles segregate into different games at meiosis. This leads to variation from parent to offspring

65
Q

Segregation

A

The two genes of each pair of homologous chromosomes are separated from each other during meiosis. They end up in different gametes

66
Q

Law of independent assortment

A

For genes on different chromosomes, alleles will segregate independently. Hair does not depend on eye color

67
Q

Are daughter cells identical in mitosis?

A

Yes

68
Q

Are daughter cells identical in meiosis?

A

No

69
Q

Gene Pool

A

The total amount of different genes in an interbreeding population. It makes up all the possible combinations that could occur.

70
Q

Different types of variation

A
  1. Complete dominance
  2. Autosomal dominant
  3. Autosomal recessive
  4. Incomplete dominance
  5. Multiple alleles
  6. Pleitropy
71
Q

Complete dominance

A

Caused by the autosomal dominant allele.

This doesn’t mean its the most common in the population, it just means that it is expressed.

72
Q

Autosomal dominant

A

Dominance in the allele. Everything is dominant other than the sex chromosome.
ex: Huntington’s disease

73
Q

Penetrance

A

Frequently expressed

74
Q

Autosomal recessive

A

Have to have two alleles form both to express. If you have one dominant and one recessive, then you carry it.

75
Q

Multiple Alleles

A

Blood groups

76
Q

Pleiotropy

A

One gene may affect many traikts

77
Q

Do portions of sister chromatids change places?

A

No. They stay in place

78
Q

Alleles

A

Alternate forms of a gene (A and a)

79
Q

Genotype

A

In diploid organisms, the combination of alleles present for a gene (AA, Aa, aa)

80
Q

Population

A

A group of individuals of the same species occupying a given area

81
Q

Gene pool

A

All the individual alleles in a population for a given locus

82
Q

Frequency

A

A proportion or percentage usually expressed as a decimal fraction

83
Q

Hardy Weinberg theorem

A

Frequency of alleles and genotypes in a population’s gene pool remain constant over generations

84
Q

Factors for the HW theorem to be true

A
  1. No mutations
  2. Infinity large populations
  3. random mating
  4. Isolated from other populations
  5. No natural selection
85
Q

Genotypic and allelic frequencies are used to describe…

A

The gene pool of a population

86
Q

Allele frequency

A

The proportional of total alleles composed of a particular allele.

p = f(A) = (# of A allele) / (# A allele + # a allele)
q = f(a) = ( # of a allele) / (#A alleles + # a allele)
p+q = 1
87
Q

Genotypic frequency

A

The proportion of the total number of individuals composed of a particular genotype

f(AA) = (#AA) / Total number of individuals
f(Aa) = (#Aa) / Total number of individuals
f(aa) = (#aa) / Total number of indivduals
88
Q

What does hardy Weinberg do?

A

If you know the allele frequencies, it allows you to determine the genotypic frequencies

89
Q

Genetic drift

A

Genetic drift occurs in small populations. It is important for a change in allele frequencies in small populations.

90
Q

Genetic bottleneck

A

A sharp reduction in the size of a population due to environmental events. Ex: Famines, earthquakes, floods, etc

91
Q

Founder Effect

A

A small founding population may have allele frequencies that differ from the parent population due to chance.

92
Q

Gene flow

A

Movement of alleles from one population to another. The fitness can increase or decrease
Outcome: Allele frequencies equalize

93
Q

Who did Darwin collaborate with?

A

Wallace

94
Q

What were Darwin and Wallace’s ideas?

A
  • Organisms share common ancestries
  • Adaptations lead to diversity in life
  • Evolution just preceded with no actual purpose
95
Q

Evolution

A

The change in the allele frequency of a population over time.

96
Q

What is the only process responsible for an entirely new genetic variation?

A

Mutations

97
Q

Views before 1800s

A

Everything remain constant. Variation was not important was just imperfection

98
Q

William Paley

A

Natural theology

99
Q

Lamarck

A

First to believe that evolution occurs.

Use/disuse derives evolution and a drive for perfection

100
Q

Cuvier

A

Extinction: Caused by a catastrophe that wipes out species

Founded the study of catastrophism

101
Q

Hutton

A

Founder of geology: Believed in the old earth. The idea that there is gradual change over time

102
Q

Charles Lyell

A

Uniform processes and the old earth. The present is the key to understand the past

BSCI 160 Shofner (2 decks)

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