Central Dogma and Mutations

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Human Genetics

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Biology

Ch. 1 and 2

164 Terms

1

Human Genetics

Science of human variation

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2

Medical Genetics

Science of abnormal human variation

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3

Clinical Genetics

Branch of medicine involved with individuals and families with, or at risk of, conditions which may have a genetic basis

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4

What are contained within the nucleus?

chromosomes

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5

Chromosomes

genetic material

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6

What are the structures of the nucleus?

Nuclear Envelope

Nuclear Pore

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7

Nuclear Envelope

separates DNA from cytoplasm

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8

What do nuclear pores allow for?

allow for communication

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9

What cellular processes occur within the nucleus?

DNA replication and Transcription

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10

What all are contained within the cytoplasm?

Cytosol

Endoplasmic Reticulum

Mitochondria

Golgi Apparatus

Lysosomes

Peroxisomes

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11

Cytosol

semifluid with structural and soluble elements

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12

Endoplasmic Reticulum

interconnecting channels

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13

What can be found in the ER?

Ribosomes

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14

Ribosomes

translation machinery made of RNA and proteins

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15

What cellular process is carried out in the ER?

Translation

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16

Mitochondria

energy producing organelle

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17

Golgi Apparatus

secretes cellular products

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18

Lysosomes

degrades waste material and breaks down polymers

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19

Peroxisomes

degrades waste material and removes toxic oxidation products

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20

What does a nucleotide contain?

Nitrogenous base

Sugar molecule (Deoxyribose)

Phosphate molecule

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21

What are the two different types of nitrogenous bases?

Purines and Pyrimidines

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22

Which are the purines?

A. Adenine

B. Cytosine

C. Guanine

D. Thymine

A. Adenine

C. Guanine

<p>A. Adenine</p><p>C. Guanine</p>
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23

Which are the pyrimidines?

A. Adenine

B. Cytosine

C. Guanine

D. Thymine

B. Cytosine

D. Thymine

<p>B. Cytosine</p><p>D. Thymine</p>
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24

What type of bond joins nucleotides together?

a phosphodiester bond

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25

On what C do phosphodiester bonds connect?

•Connect 3’ and 5’ C between sugars

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26

What type of bonds hold together the DNA double helix?

hydrogen bonds

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27

How do DNA strands run?

DNA strands run antiparallel to one another

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28

Why is located on the 5’ end of the DNA strand?

a terminal phosphate

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29

Why is located on the 3’ end of the DNA strand?

a terminal hydroxyl

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30

What is the primary coil of a chromosome structure?

double helix that connects the two strands of DNA via H-bonds and coil

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31

What is the secondary coil of a chromosome structure?

DNA wraps around histone proteins to create a nucleosome

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32

How many histone proteins makes up a nucleosome?

8 histone proteins

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33

What are the histone proteins that make of the nucleosome?

H2A

H2B

H3

H4

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34

What is the tertiary coil of the chromosome structure?

nucleosomes wrap and form chromatin fibers

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35

Solenoid Model

Tight winding of chromatin DNA to make up a spring-like helical coil

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36

How many chromosomes do humans have?

23 chromosomes

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37

How many protein coding genes are in human chromosomes?

20,000-25,000

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38

Individuals inherit how many copies of each chromosome from each parent?

inherit one copy of each chromosome

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39

What type of DNA is transcribed and translated into proteins?

A. Coding DNA

B. Non-Coding DNA

A. Coding DNA

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40

What type of DNA is extragenic DNA?

A. Coding DNA

B. Non-Coding DNA

B. Non-Coding DNA

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41

What are the different types of DNA?

Nuclear genes

Extragenic DNA

Mitochondrial DNA

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42

How many genes are in the nuclear genome?

20,000 genes

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43

\n

Heterochromatin

the area of the chromosome which is darkly stained with a DNA-specific stain and is in comparatively condensed form

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44

Euchromatin

the area of the chromosome which is rich in genes that actively participate in the transcription process

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45

What type of DNA is this?

  • Non-coding DNA

  • Highly Condensed

A. Euchromatin

B. Heterochromatin/Centromeric

B. Heterochromatin/Centromeric

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46

What type of DNA is this?

  • Coding DNA

A. Euchromatin

B. Heterochromatin/Centromeric

A. Euchromatin

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47

Where are genes located?

within chromosomes

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48

What do Single-Copy Genes code for?

code for polypeptides with specific functions

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49

Where are DNA sequences located on a chromosome?

found in exons

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50

Multigene Families

Genes with similar functions that are made from gene duplication and evolutionary divergence

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51

Where are multigene families found?

found in clusters of genes on chromosome

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52

What are the two types of multigene families?

Classic gene families

Gene superfamilies

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53

Which type of multigene family is described below?

  • Sequence homology

  • DNA sequences are similar

  • i.e. tRNA genes

A. Classic gene families

B. Gene superfamilies

A. Classic gene families

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54

Which type of multigene family is described below?

  • Functional homology

  • Structure is similar

  • i.e. HLA genes and T-cell receptor genes have similar structure to immunoglobulin genes

A. Classic gene families

B. Gene superfamilies

B. Gene superfamilies

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55

Inton

non-coding intervening sequences

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56

Exon

coding sequences of gene

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57

Satellite DNA

DNA repeats that are transcriptionally inactive

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58

Where is satellite DNA typically found?

often found at centromeres

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59

Minisatellite DNA

DNA repeats that are transcriptionally inactive

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60

Telomeric DNA

6-base-pair repeats (15kb total) in telomeres

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61

What sequence is typically associated with telomeric DNA?

TTAGGG

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62

What is the role of telomeric DNA?

chromosome integrity

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63

Hypervariable DNA

short repeats of core sequence that differ in numberof repeats

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64

What is an example of hypervariable DNA?

Fingerprinting

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65

Microsatellite DNA

2, 3, 4- base pair repeats that are not in a coding region

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66

If microsatellite DNA is found within the coding region, what is it associated with?

associated with disease phenotype

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67

How does microsatellite DNA insert itself into the coding region?

through slipped strand mispairing

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68

What percentage of the human genome is made up of short interspersed nuclear elements (SINES)?

5% of the human genome

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69

Transposon

DNA that can move through the chromosome

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70

What are the functions of transposons?

Genetic variation

Alter gene expression

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71

What percent of the human genome is made up of long interspersed nuclear elements (LINES)?

5% of the human genome

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72

What is the central dogma of biology?

DNA → RNA ≤≥ Protein

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73

DNA helicase

separates DNA double helix

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74

Replication Fork

y-shaped structure where DNA replication occurs

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75

DNA polymerase

enzyme replicating DNA

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76

Leading Strand

continuous strand

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77

Lagging Strand

synthesized in Okazaki fragments

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78

DNA ligase

joins the DNA fragments

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79

Semiconservative

only one strand is from original parent

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80

Replication Bubble

point where DNA replication occurs in both directions

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81

Where does transcription begin?

at the TATA box

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82

Promoter

Where RNA polymerase binds

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83

Where is the promoter sequence located?

upstream (5’) of the gene

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84

What is important for regulation of gene expression

the promoter sequence

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85

What enzyme transcribes DNA to RNA?

RNA polymerase

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86

In what direction does RNA polymerase build RNA molecules?

in the 5’ to 3’ direction

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87

What enzyme generates mRNA?

RNA polymerase

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88

The template strand is also called the …

A. Antisense strand

B. Sense strand

A. Antisense strand

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89

mRNA is a copy of which strand?

A. Antisense strand

B. Sense strand

B. Sense strand

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90

What signals for the end of transcription?

polyadenylation signal

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91

When the polyadenylation signal is reached, what is released?

the RNA polymerase

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92

When does RNA processing occur?

before leaving the nucleus

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93

What are the three steps of RNA processing?

Polyadenylation

5’ capping

mRNA splicing

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94

Polyadenylation

200 adenylate residues that increase stability and prevent degradation

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95

What is the role of polyadenylation?

nuclear export and translation

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96

5’ Capping

guanine is added to the 5’ end of RNA transcript

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97

Methyltransferase

enzyme that add methyl on the 5’ guanine at the N7 position

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98

What is the role of the 5’ capping?

to transport mRNA to cytoplasm and to protect RNA transcript from degradation

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99

mRNA Splicing

when the introns are excised, and exons are re-connected

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100

What is the role of mRNA splicing?

prepares gene for translation

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