HBIO 370 - Exam 1 - Basis of Inheritance

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250 Terms

1

Genetics is the branch of science concerned with

genes, heredity, & variation in living organisms

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2

Where is genetic information stored?

Nucleus in DNA

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3

How many strands are antiparallel?

two strands of DNA

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4

How many strands are bound by hydrogen bonds?

two strands of DNA

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5

G & C make how many hydrogen bonds… while T & A make _____ bonds

three, two

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6

Purines consist of:

adenine and guanine

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7

Pyrimidines consist of:

Cytosine, Uracil, Thymine

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8

Each nucleotide consists of:

a sugar, phosphate, and a base

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9

DNA & Histones are packed to form…

Nucleosomes

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10

Nucleosomes are compacted in a helical shape called

Solenoid

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11

Solenoid

assembled to form a loop and with a protein scaffold they form the Chromosome

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12

True or false… Telocentric chromosomes only exist in humans

False

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13

What are acrocentric chromosomes?

Chromosomes with the centromere located near one end, resulting in a long arm and a short arm.

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14

Describe a submetacentric chromosome

A chromosome with the centromere located slightly off-center, creating two arms of unequal length.

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15

What is a metacentric chromosome?

A chromosome with the centromere located in the middle, resulting in two arms of equal length.

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16

Telomerase enzyme replaces the telomeres lost with…

DNA replication

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17

Size of centromeres

0.3-5 Mb, for cell division

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18

Haploid genotype

23 chromosomes, in gametes

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19

Diploid genotype

46 chromosomes, somatic cells

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20

What does the mitotic phase consist of?

mitosis and cytokinesis

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21

Interphase is…

cell growth, copying of chromosomes in preparation for cell division including G1, S, and G2

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22

G1 phase

the first phase of interphase where the cell grows and synthesizes proteins.

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23

S phase

the phase of interphase where DNA is replicated, resulting in the duplication of chromosomes.

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24

G2 phase

the second gap phase of interphase following DNA replication, where the cell continues to grow and prepares for mitosis.

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25

Mitosis

Process of cell division (somatic)

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26

In mitosis,

1 mother cell gives rise to 2 daughter cells

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27

During mitosis each chromosome is separated
into the

two sister chromatids.

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28

two sister chromatids replicate during…

the S phase of interphase.

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29

Stages of Mitosis

Prophase, Metaphase, Anaphase, Telophase

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30

What occurs during cytokinesis?

cell divides, 2 daughter cells form

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31

What happens during telophase?

Mitotic spindle disappears, nuclear envelope begins to reform, cell division begins

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32

Anaphase

mitotic spindle pulls sister chromatids to opposite poles

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33

Cells are blocked in ______ to retrieve chromosomes

metaphase

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34

G banding method

treatment with trypsin, and stained with dyes

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35

Heterochromatin

dark, condensed DNA, not expressed

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36

Euchromatin


light bands, less condensed, actively expressed

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37

Autosomes

22 pairs

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38

What does the CFTR location map gene 7q31.2 mean?

chromosome 7

q arm (long)

band 3

sub-band 1

sub-sub-band 2

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39


Aneuploidy

loss or gain of 1 chromosome

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40


Monosomy

missing one chromosome

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41

Trisomy

one extra chromosome

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42


Tetrasomy

not in humans

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43


Polyploidy

gain of 1 complete haploid complement

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44

Polyploidy can result in

Miscarriage

No cytokinesis

2 spermatozoa, fertilize 1 oocyte

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45

Why don’t women suffer from having 2 X chromosomes?

Due to X inactivation, one is silent, the other is expressed (lyionization)

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46

Inactivation is the condensation of: one X chromosome to form the…

Barr Body

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47

Barr Body is:

an inactivated X chromosome that exists to complement the active form

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48

Trisomy

21, 18, 13 (XXX, XXY, XYY)

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49

Trisomy 13

Patau Syndrome

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50

Trisomy 18

Edward’s Syndrome

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51

Triple X syndrome

47, XXX

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52

Klinefelter syndrome

47, XXY

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53

Jacob Syndrome

47, XYY

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54

S phase: DNA replication

Sister chromatids identical, replicated during synthesis

One chromatid is used as a template

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55

New DNA molecules are made up of one of the ________ plus
a new half.

As a result, DNA replication is
called ______

original parental strands

semi-conservative

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56

DNA Polymerase synthesizes DNA using a template and works in a ____________

5’ to 3’ direction

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57

Each bubble on chromosome allows for:

replication for a leading strand and a lagging strand

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58

Okazaki fragments are synthesized in the…

lagging strand

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59

DNA polymerase requires ____ to function

primers

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60

primers

short RNA sequences (~20 nu) from which the DNA
poly can start to amplify DNA

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61


exonucleases

they can degrade the RNA primers they find ahead and replace them
with DNA, they cannot seal the nicks

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62

Initiation

Proteins bind to DNA, open up double helix, and prepare DNA

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63


Elongation

Proteins connect the correct sequence of nucleotides into a continuous strand of DNA

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64


Termination

Proteins release the replication complex to cut the DNA to avoid
tension damage caused by overwinding to stabilize SS DNA

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65

Helices

Separates 2 strands

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66

Primase

Synthesizes RNA primers

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67

Single strand binding proteins

Prevents reannealing of single strands

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68

DNA ligase

Seals nicks in DNA

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69

DNA polymerase

Synthesizes DNA, polymerases in eukaryotes also function as an exonuclease

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70

Telomerase

enzymes that restore telomere length to avoid DNA loss (only in certain cells)

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71

Topoisomerase

Prevents torsion/breaks

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72


Pseudogenes

not expressed, 𝛹, resemble coding genes, produced by gene duplication/inactivating mutations

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73


Tandem

they are clustered together and oriented in
the same direction

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74

Microsatellites

2-4 bps 10-30 repeats

Rarely on coding genes, can cause disease

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75

Minisatellites

telomeres, hypervariable minisatellite

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76

Satellites

several hundreds bps clustered around centromeres

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77

transposable element

a DNA sequence that can change its position within a genome

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78

Transposons

create or reverse mutations and
alter the genome size, thus creating genetic
diversity

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79


TE can make up to _____ of human genome

45%

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80

How do TE work?

DNA Transposons, Retrotransposons

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81

SINEs Short Interspersed Nuclear Elements

~300 bp in 1 millin copies (Alu)

10% of genome

Originated from transposons - have short sequences recognized by tranposases

All are retrotransposons

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82

LINEs Long Interspersed Nuclear Elements

17% of human genome

Line-1 in 6000 bp in > 100,000 copies

Line 1 is a Retrotransposon

Coded for transposes enzyme

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83

Alu elements can cause disease by…

insertion, homologous recombination

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84

Mitochondria contain a

16.6 kb circular ad double-stranded genome

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85

DNA directs the production of proteins
via an intermediate molecule of DNA

F, RNA

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86


exons

coding regions

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87

introns

non-coding regions that are
removed during the splicing process

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88

Capping is the addition of a 5’ cap, which facilitates…

mRNA export and protects the molecule

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89

200 adenines are added to the 5’ end to facilitate
export

3’ end, F

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90

Translation takes place in the…

cytoplasm by ribosomes, made of rRNA and proteins

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91

Ribosomes read mRNA and use tRNA to produce a string of amino acids by ___________ on the mRNA with nucleotides on the tRNA

pairing up nucleotides

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92

3 nu on the tRNA make an ______

3 nu on the mRNA make a ________

Each tRNA also binds one of ______

anticodon, codon, 20 AAs

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93


Gametogenesis

oogenesis and spermatogenesis

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94

Crossing over

occurs when homologous chromosomes line
up during meiosis I.

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95

Meiosis is arrested in _____ (diplotene) at birth

prophase I

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96

With ovulation, meiosis continues and is arrested at _________

metaphase II

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97

Non-disjunction

he failure of homologous chromosomes or sister
chromatids to separate properly during cell division

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98

There is two globin chains on alpha 1 and alpha 2

T

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99

The coding strand (DNA) - TTC 

Find the Template:

mRNA (Codon):

Anticodon tRNA:

AAG, UUC, AAG

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100

Synaptonemal complex

keeps homologous chromosomes together until pregnancy

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