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BSCI 160 Shofner > Midterm 1 > Flashcards

Midterm 1 Flashcards

Exam study material (102 cards)

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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
Do offspring inherit phenotypes or genes?
Genes
26
What is the leading cause of variation?
Mutations
27
Mutations
- Errors in repairs or synthesis - Damage caused by x rays or chemicals - Errors in meiosis
28
Point Mutations
Mistakes made at one location on the DNA
29
What are the 4 types of point mutations?
1. Silent 2. Missense 3. Nonsense 4. Frameshift
30
Silent Mutations
Codes for the same amino acid (neutral)
31
Missense mutations
Code for the wrong amino acid
32
What mutation causes sickle cell anemia
Missense mutations
33
Nonsense
Prematurely stop translation THE FAT CAT ATE ____ Leads to nonfunctional proteins Ex: Duchenne's and cystic fibrosis
34
Frameshift
Insertion or deletion of one nucleotide Often have major affects Ex: Tay sachs
35
What are the 4 types of chromosomal rearrangements
1. Inversion 2. Deletion 3. Duplication 4. Translocation
36
Inversion
A segment in a chromosome is taken apart, reversed, and then rejoined again
37
Deletion
A segment in a chromosome that is lost/deleted
38
Duplication
A repeating segment of a chromosome that is repeated more than once in the same chromosome
39
Translocation
Occurs the most often during chromosomal rearrangements. When part of a chromosome is transferred to another chromosome
40
SRY gene
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
41
Huntington's Disorder
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
Epigenetics: X chromosome inactivation
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
What is an inactivated x chromosome called?
Barr body
44
Barr body
A condensed, inactive x chromosome. The inactive x usually lies along the edge of the interphase nucleus in a highly condensed state.
45
When is a barr body formed
During the interphase in somatic cells
46
How to calculate the number of barr bodies
N-1...n = # chromosomes Two chromosomes = 1 barr body Three chromosomes = 2 barr bodies
47
2 ways the number of chromosomes can change?
1. Aneuploidy | 2. Polyploidy
48
Aneuploidy
Any abnormal number of chromsomes
49
Monosomy
Missing one chromosome (2n-1)
50
Trisomy
One extra chromosome (2n+1)
51
Polyploidy
More than two pairs of chromosomes
52
Sex chromosome abnormalities occurring during meiosis/gamete formation are due to...
Non-disjunction
53
Non-disjunction
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
Disorders caused by non disjunction
1. Down syndrome 2. Turner syndrome 3. Klinefelter syndrome 4. Aneuploidy
55
The allele that is expressed
Dominant
56
The allele that is not expressent
Recessive
57
Incomplete dominance
Incompletely expressed as phenotype
58
Inheritance
Each individual has two alleles per gene. One from the mother and one from the father.
59
Homozygous
RR or rr
60
Heterozygous
Rr
61
Mendel
Began the modern understanding of inheritance. | Said that meiosis leads to heterozygous alleles
62
What experiment did Mendel do?
He worked with flowers and did the breeding experiments to see how the different generations turn out
63
Mendel's Laws of inheritance
1. Law of segregation | 2. Law of independent Assortment
64
Law of segregation
Alleles segregate into different games at meiosis. This leads to variation from parent to offspring
65
Segregation
The two genes of each pair of homologous chromosomes are separated from each other during meiosis. They end up in different gametes
66
Law of independent assortment
For genes on different chromosomes, alleles will segregate independently. Hair does not depend on eye color
67
Are daughter cells identical in mitosis?
Yes
68
Are daughter cells identical in meiosis?
No
69
Gene Pool
The total amount of different genes in an interbreeding population. It makes up all the possible combinations that could occur.
70
Different types of variation
1. Complete dominance 2. Autosomal dominant 3. Autosomal recessive 4. Incomplete dominance 5. Multiple alleles 6. Pleitropy
71
Complete dominance
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
Autosomal dominant
Dominance in the allele. Everything is dominant other than the sex chromosome. ex: Huntington's disease
73
Penetrance
Frequently expressed
74
Autosomal recessive
Have to have two alleles form both to express. If you have one dominant and one recessive, then you carry it.
75
Multiple Alleles
Blood groups
76
Pleiotropy
One gene may affect many traikts
77
Do portions of sister chromatids change places?
No. They stay in place
78
Alleles
Alternate forms of a gene (A and a)
79
Genotype
In diploid organisms, the combination of alleles present for a gene (AA, Aa, aa)
80
Population
A group of individuals of the same species occupying a given area
81
Gene pool
All the individual alleles in a population for a given locus
82
Frequency
A proportion or percentage usually expressed as a decimal fraction
83
Hardy Weinberg theorem
Frequency of alleles and genotypes in a population's gene pool remain constant over generations
84
Factors for the HW theorem to be true
1. No mutations 2. Infinity large populations 3. random mating 4. Isolated from other populations 5. No natural selection
85
Genotypic and allelic frequencies are used to describe...
The gene pool of a population
86
Allele frequency
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
Genotypic frequency
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
What does hardy Weinberg do?
If you know the allele frequencies, it allows you to determine the genotypic frequencies
89
Genetic drift
Genetic drift occurs in small populations. It is important for a change in allele frequencies in small populations.
90
Genetic bottleneck
A sharp reduction in the size of a population due to environmental events. Ex: Famines, earthquakes, floods, etc
91
Founder Effect
A small founding population may have allele frequencies that differ from the parent population due to chance.
92
Gene flow
Movement of alleles from one population to another. The fitness can increase or decrease Outcome: Allele frequencies equalize
93
Who did Darwin collaborate with?
Wallace
94
What were Darwin and Wallace's ideas?
- Organisms share common ancestries - Adaptations lead to diversity in life - Evolution just preceded with no actual purpose
95
Evolution
The change in the allele frequency of a population over time.
96
What is the only process responsible for an entirely new genetic variation?
Mutations
97
Views before 1800s
Everything remain constant. Variation was not important was just imperfection
98
William Paley
Natural theology
99
Lamarck
First to believe that evolution occurs. | Use/disuse derives evolution and a drive for perfection
100
Cuvier
Extinction: Caused by a catastrophe that wipes out species | Founded the study of catastrophism
101
Hutton
Founder of geology: Believed in the old earth. The idea that there is gradual change over time
102
Charles Lyell
Uniform processes and the old earth. The present is the key to understand the past

BSCI 160 Shofner (2 decks)

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