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Genetics Flashcards

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1
Q

Whenever there’s a “never” on an exam…

A

It’s wrong

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2
Q

Medel’s 2 Laws:

A

Segregation - gamete will have one allele or the other

Independent Assortment - alleles are mixed up

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3
Q

2 arms of a chromosome:

A

p - short arm

q - long arm

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4
Q

How many chromosomes in a human?

A

46

23 pairs

(22 pairs plus XX or XY)

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5
Q

What are the 3 positions of the Centromere:

A

Metacentric - in middle

Submetacentric - off center with different arm lengths

Acrocentric - centromere near top

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6
Q

What is at the end of chromosomes?

A

Telomeres

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7
Q

What are 2 arms of a replicated chromosome held together at a centromere?

A

Sister chromatids

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8
Q

3 parts of Interphase:

A

G1 -

S - DNA replication (synth)

G2

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9
Q

6 phases mitosis:

A

Interphase (G1, S, G2)

Prophase (chromosomes condense)

Prometaphase (nuclear mem. disappears)

Metaphase

Anaphase

Telophase (cytokinesis)

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10
Q

At what point in Meiosis is there separation of centromeres?

A

Meiosis II

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11
Q

Describe Meiosis I:

A

Reduction Division

Homologues separate

46 > 23 / (2n > 1n) / diploid > haploid

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12
Q

Describe Meiosis II:

A

Sister chromatids separate

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13
Q

Where does Crossover occur in Meiosis?

A

Prophase I

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14
Q

In recombination, homologous chromosomes line up and crossover, producing ______ and _____ gametes

A

2 parental

2 recombinant

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15
Q

The number of cross-over events is related to the _____ of the chromosome arm.

A

Length

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16
Q

T/F

Decreased cross-overs are associated with increased risk of nondisjunction

A

True

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17
Q

What are the products of Oogenesis?

A

1 oocyte

2 polar bodies

*1st polar body doesn’t divide again

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18
Q

4 aspects of Male Meiosis:

A

Puberty onset

60-65 days

4 spermatids

100-200 million/ejaculate

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19
Q

4 aspects of Female Meiosis:

A

3rd month embryo onset

10-50 year duration

1 ovum, 2 polar bodies

1 ovum per menstrual cycle

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20
Q

Prophase I of Meiosis (M1) 5 stages:

A

Leptotene - condensation

Zygotene - homologs pair

Pachytene - crossing over

Diplotene - homologs separate incompletely (still chiasma)

Diakinesis - homologs completely separate

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21
Q

Nondisjuction at M1 (prophase I) will result in _____ and _____ gametes.

*Homologues don’t separate

A

2 Disomic

2 Nullisomic

*heterodisomy

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22
Q

The Disomic Gametes of M1 nondisjuction are?

A

Heterodisomy

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23
Q

Nondisjuction at MII will result in _____ and ______ gametes.

*homologues separate, sister chromatids don’t

A

2 Disomic

2 Nullisomic

*isodisomy

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24
Q

The Disomic Gametes of MII nondisjunction are?

A

Isodisomy

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25
After meiosis II, the daughter cells contain...
23 chromosomes, 23 chromatids
26
Kb = Mb = cM = 1% recombination =
1000 bp 1 million bp (1000 Kb) 1 Mb 1 cM
27
How do we count chromosomes?
By the number of centromeres present
28
At the beginning of Meiosis I, how many Chromosomes does the cell contain?
46 chromosomes
29
At the beginning of M1, how many Chromatids does the cell contain?
92 chromatids
30
At the end of M1, how many Chromosomes does the cell contain?
23 chromosomes
31
At the end of M1, how many Chromatids does the cell contain?
46 chromatids
32
At the end of Meiosis II, how many chromosomes does the cell contain?
23 chromosomes
33
At the end of MII, how many Chromatids does the cell contain?
23 chromatids
34
Immediately after fertilization, how many chromosomes does the zygote contain?
46 chromosomes
35
Immediately after fertilization, how many Chromatids does the zygote contain?
46 chromatids
36
The zygote prepares to divide. Immediately before the first mitotic division, the cell contains how many Chromosomes?
46 chromosomes
37
The zygote prepares to divide. Immediately before the first mitotic division, the cell contains how many Chromatids?
92 chromatids
38
In a 2 cell embryo, how many Chromosomes are in each cell? *immediately after mitotic division
46 chromosomes
39
In a 2 cell embryo, how many Chromatids are in each cell? *immediately after mitotic division
46 chromatids
40
How many chromosomes do humans have?
46 chromosomes
41
If short arms and large arms are about the same length and the centromere is in the middle, the chromosome is said to be...
Metacentric
42
If the centromere is off center, the chromosome is...
Submetacentric
43
If the centromere is extremely off center, the chromosome is...
Acrocentric
44
P is the ____ arm Q is the ____ arm
petite - short long
45
Telomeres are at the _____, centromeres are in the ____.
end middle
46
What is the Growth stage between mitosis and replication (preparing to replicate)?
G1
47
DNA replication phase: Interval between synthesis and mitosis (repair):
S G2
48
2 aspects of Prophase:
Chromosomes condense Mitotic spindle/centrosomes begin to form
49
What happens in Prometaphase?
Nuclear membrane disappears
50
3 aspects of Metaphase:
Chromosomes fully condense Chromosomes line up on meta plate Spindle fibers begin to contract
51
2 aspects of Anaphase:
Centromeres divide into 2 Spindle fibers pull chromatids apart by centromere
52
4 aspects of Telophase:
Cytokinesis 2 nuclear membranes Spindle fibers disappear Chromosomes revert to uncondensed form
53
Time in each: G1 S G2
10-12 hrs 6-8 hrs 2-4 hrs
54
At the beginning of M1, a human cell contains ______ chromosomes and ______ chromatids.
46 92
55
In M2, 2 cells have _____ chromatids each containing _______ chromosomes
46 chromatids 23 chromosomes
56
At the end of M2, 4 cells have ___ chromosomes and __ chromatids.
23 23
57
Sperm = Egg = Zygote =
23 chromosomes (23 chromatids) 23 chromosomes (23 chromatids) 46 chromosomes (46 chromatids)
58
Male gametogenesis produces: | Female gametogenesis produces: w/ w/out fertilization
4 sperm cells 1 Egg, 2 Polar bodies After fertilization 1 Egg, 1 Polar body without fertilization
59
What is the average size of a gene? Hoe many genes in the human genome?
14,000 bp (14 kb) 22,000 genes
60
cM = ____ Mb = _____ kb = ______ bp DNA
1 1000 1,000,000
61
1 cM = ___% recombination
1% *1 million bp
62
What is at the beginning of a gene? What sequences were previously known as junk DNA? What are the coding sequences?
5' un-translated region Introns Exons
63
DNA > DNA DNA > RNA RNA > Protein > Translation
Replication Transcription Translation
64
How many codons total?
64
65
How many AA's have only 1 codon? What are they?
2 Trp - Tryptophan - UGG Met - Methionine - AUG - start codon
66
How many stop codons? What are they?
3 UAA, UAG, UGA
67
Is the code the same for nucleic and mitochondrial DNA?
No. Mitochondrial DNA uses Non-Universal codon
68
Single generation, clustered form of inheritance: If sister expresses an Autosomal Recessive disorder, the chances of being a carrier are:
Autosomal recessive 2/3
69
Every generation affected, evenly distributed trait pattern:
Autosomal dominant *Vertical Transmission
70
What inheritance pattern looks like vertical recessive because it skips generations?
Non-penetrance of Dominant trait
71
Vertical transmission appearing out of nowhere?
New mutation - Dominant
72
A genetic disease that can be mild in one pt and severe in another may be exhibiting what?
Variable expressivity
73
Transmission that is expressed in males only?
X-linked ***female carriers
74
5 ways a female can have an X-linked disorder: | recessive
consanguinity Assortative mating Isodisomy Lionization Turner's syndrome
75
If mother passes trait on to all, and sons don't pass but daughters do...
Mitochondrial
76
What are the 2 best examples of Imprinting in humans?
Prader-Willi Angelman
77
What is the most common mechanism that causes PWS? Minority?
Deletion of father's chromo 15 (70%) Maternal uniparental disomy (25%)
78
What is the most common mechanism for Angelman Syndrome?
Deletion on mothers chromo 15 (70%)
79
______ is the most efficient way to test PWS and AS.
Methylation Analysis
80
Uniparental Disomy has implications for what 2 types of disorders.
Recessive Imprinted
81
6 Components of PCR:
DNA template Primers dNTP's polymerase Buffer Mg
82
What 3 steps make up a cycle of PCR?
Denaturation Annealing Extension

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