Exam 3 Flashcards

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1
Q

Describe chromosome theory of inheritance

A

states that genes are located on the same chromosomes

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2
Q

Describe incomplete dominance

A

Where the F1 hybrid has an appearance in between the phenotypes of the two parents (blended)

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3
Q

What is codominance?

A

When both alleles are expressed in the phenotype (both show)

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4
Q

What is polygenic Inheritance?

A

The addative effects of 2 or more genes on a single phenotype…In other words…traits determined by two or more genes

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5
Q

Name 3 internal and external conditions which influence phenotype

A

Temperature, Chemicals, and Nutrition

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6
Q

What are homologous chromosomes and what do they form?

A

Chromosomes that pair up during meiosis I which form a tetrad or bivalent

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7
Q

Describe mutation

A

change in DNA that makes up a gene

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8
Q

Are most human disorders recessive or dominate?

A

recessive

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9
Q

What is a family pedigree?

A

It shows the history of a trait in a family

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10
Q

Describe sex linked genes

A

Any genes located on the X chromosome

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11
Q

What are two main causes of chromosomal abnormalities?

A

Changes in chromosome structure and number

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12
Q

What are the 4 ways the chromosomal structure can change?

A

1 - Deletion
2 - Inversion
3 - Translocation
4 - Duplication

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13
Q

Describe nondisjunction

A

Errors in meiosis which results in abnormal chromosome numbers

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14
Q

Describe complete dominance

A

For dominance to be complete, a single copy of the
dominant allele must be enough to produce its phenotypic
effect in a heterozygote

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15
Q

Can phenotype be affected by environment?

A

Yes

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16
Q

What is the relationship between alleles, genes, and homologous chromosomes for the chromosome therory of inheritance?

A

Genes are at a specific loci
Alleles of a gene are at the same locus
In homologous chromosomes one gene is inherited from each parent

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17
Q

Describe loci / locus

A

The physical location of a gene on a chromosome

Loci is plural

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18
Q

Describe “origin of alleles” concept

A

Different alleles originally arose from mutations

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19
Q

What is the relationship between mendel’s laws and the movement of chromosomes during meiosis?

A

The law of segregation is when homologous chromosomes separate from each other during meiosis resulting in each gamete receiving just one chromosome from each parent

The law of independent assortment is baed on different tetrads lining up on the metaphase plate independent of each other

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20
Q

What are linked genes?

A

Genes found close together on the same chromosome

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21
Q

How do linked genes and independent assortment relate?

A

Independent assortment explains inheritance patterns of two genes found on different chromosomes. We can tell if two genes are linked because they would no longer be able to sort independently

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22
Q

Who was Thomas Hunt Morgan and what organism did he study?

A

He discovered that genes were inherited together by cross breeding fruit flies (imagine a man “hunting” for fruit flies

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23
Q

What are carriers?

A

When someone has one of the disease alleles but does not show that trait. They will always be heterozygous

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24
Q

Can there be carriers for an autosomal dominant disorder?

A

NO because it is impossible to be a carrier for a dominant disorder

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25
Q

When would lethal dominant disorders need to be expressed in order to be heritable?

A

Later in life in order to be passed on to offspring

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26
Q

Why do humans make lousy genetic models?

A

1) They have long gestation periods
2) Few offspring at a time
3) Expensive to house
4) Unwilling to participate

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27
Q

What types of information are we able to get from human pedigrees?

A

1) The history of a trait in a family

2) Study genetic disorders

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28
Q

Which parent determines the gender of the offspring in humans?

A

father (dads produce either an X or a Y chromosome)

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29
Q

Where are sex linked genes found?

A

On the X chromosome

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30
Q

Why are males more likely to show recessive sex linked disorders?

A

Because they only have one X chromosome

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31
Q

Which parent contributes the sex linked genes to sons and daughters?

A

The father . He produces either a X or Y

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32
Q

How would someone end up with an incorrect number of chromosomes?

A

An error in meiosis

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33
Q

Wj=hat properties must genetic material possess?

A

1) Contain information
2) Easy to copy
3) Variable between humans

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34
Q

What are chromosomes made up of?

A

DNA and Protein

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35
Q

At first why did DNA seem unlikely as genetic material?

A

Because it was too simple (contained only 4 nucleotides)

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36
Q

What did Griffiths experiment show?

A

That harmless bacteria could be transformed into harmful bacteria

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37
Q

How did Avery, Macleod, and McCarty’s experiment differ from Griffith’s and what did it show?

A

They isolated and tested different compounds from the bacteria and discovered that it was the DNA that caused the transforming and NOT the protein (thing about mcdonalds transforming a cow with dna branded on it….into a burger)

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38
Q

How did Hershey and Chase’s experiment differ from the other experiments and how did they show which substance was the genetic material?

A

They used radioisotopes of phosphorous and sulfer to selectively label the DNA and the proteing. They observed that it was the dna which entered into the bacteria and not the protein (imagine someone chasing you with a radioactive hershey bar that is glowing)

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39
Q

Who were Watson and Crick and what did they do?

A

They were scientists that discovered that DNA was a double helix. They also used crystalography to determine the shape of DNA

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40
Q

Who was Erwin Chargaff and what did he do?

A

He discovered that in DNA extracted from cells that A=T and C=G but A+T did not equal C+G in most organisms

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41
Q

Who was Rosalind Franklin and what did she do?

A

A scientist whose research help Watson and Crick with their data. She died of cancer probably due to her work with x-ray caligraphy

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42
Q

Describe the structure of DNA

A

It is shaped like a double helix with:

1) 2 long strands of nucleotides
2) sugar phosphate backbone
3) nitrogenous base pairing

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43
Q

Describe the concept of variation between individuals and species

A

Individuals have slight differences in dna sequences and different species have greater differences

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44
Q

Describe the complimentary base pair concept

A

When the sequence of base strands on one strand of dna is known then we automatically will know the sequence on the other strand

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45
Q

When does DNA replication occur?

A

During the S phase of interphase

46
Q

Which emzyme is most important in DNA replication and how doeas it know which base to add?

A

DNA Polymerase / By observing the base pairing rules

47
Q

How much of the DNA is copied during replication?

A

All of it

48
Q

What is semi conservative replication?

A

Each of the new double helix strands contains one of the original strands

49
Q

What does “origin of replication” mean?

A

Specific site where the strands seperate

50
Q

What is the error rate of DNA polymerase?

A

one in ten million

51
Q

Why are proofreading enzymes important?

A

They help correct mistakes

52
Q

Mutation definition

A

Changes in the dna sequence

53
Q

What are the 3 steps of dna repair?

A

1) Recognize
2) Remove
3) Replace

54
Q

Is all dna damage repairable?

A

NO

55
Q

What is xeroderma pigmentosum?

A

A recessive disorder in which the dna damage can not be repaired due to exposure to uv

56
Q

What is the difference and similarites between dna and rna?

A

DNA is self replicating and rna is made from DNA.. DNA mainly provides cell instructions while RNA mainly used to create proteins

57
Q

What types of RNA are there?

A

1) mRNA (messenger)
2) tRNA (transfer)
3) rRNA (ribosomal)

58
Q

What are the two main steps of the central dogma of genetics

A

Transcription and Translation

59
Q

Is all dna damage repairable?

A

NO

60
Q

What is xeroderma pigmentosum?

A

A recessive disorder in which the dna damage can not be repaired due to exposure to uv

61
Q

What is the difference and similarites between dna and rna?

A

DNA is self replicating and rna is made from DNA.. DNA mainly provides cell instructions while RNA mainly used to create proteins

62
Q

What types of RNA are there?

A

1) mRNA (messenger)
2) tRNA (transfer)
3) rRNA (ribosomal)

63
Q

What are the two main steps of the central dogma of genetics

A

Transcription and Translation

64
Q

Is all dna damage repairable?

A

NO

65
Q

What is xeroderma pigmentosum?

A

A recessive disorder in which the dna damage can not be repaired due to exposure to uv

66
Q

What is the difference and similarites between dna and rna?

A

DNA is self replicating and rna is made from DNA.. DNA mainly provides cell instructions while RNA mainly used to create proteins……DNA and RNA are both nucleic acids made up of nucleotides

67
Q

What types of RNA are there?

A

1) mRNA (messenger)
2) tRNA (transfer)
3) rRNA (ribosomal)

68
Q

What are the two main steps of the central dogma of genetics

A

Transcription and Translation

69
Q

Transcription - where does it occur and what is the result?

A

It occurs in the nucleus and it results in dna being copied into new molecule of RNA

70
Q

Translation - where does it occur and what is the result?

A

It occurs in the cytoplasm and the result is the creation of protein

71
Q

Define Promotor

A

The DNA region at the beginning of the gene where the DNA Polymerese binds to and begins transcoding

72
Q

Define Terminator

A

The region at the end of the gene where the RNA polymerese stops and releases the rna that was formed

73
Q

Define RNA Polymerese

A

An enzyme which binds to the promotor to start transcoding the gene. It makes mRNA

74
Q

How does DNA replication compare with transcription?

A

1) The key enzyme in DNA replication is dna polymerase and for RNA replication the key enzyme is RNA polymerase
2) The entire molecule is duplicated for dna replication whereas only a portion is duplicated for transcription
3) DNA replication produces a double strand dna molecule and transcription produces a single strand rna molecule

75
Q

What are introns?

A

non-cding regions of genes removed after transcription

76
Q

What are exons?

A

The coding regions of the gene

77
Q

What is RNA processing?

A

Involves removing introns and reattaching exons in order

78
Q

Where does RNA processing occur?

A

In the nucleus

79
Q

Describe codon

A

Every three bases of the mRNA is called a codon

80
Q

What does it mean that the genetic code is universal?

A

All living organisms on earth use the same genetic code

81
Q

What is the function of ribosome?

A

To hold mRNA and link amino acids

82
Q

Describe the structure of tRNA

A

Contains two binding sites…..amino acid site and anticodon

83
Q

Define anticodon

A

Pairs with a specific codon on the mRNA molecule

84
Q

Describe the steps of translation

A

It is the process of making protein from rna. The mRNA moves through the ribosome. Every three letters codes for an amino acid. tRNA’s transfer amino acids from the cytoplasm to the ribosome. They contain 3 bases called anticodon which attach to the codons on the mRNA. They then drop off their amino acids and then go back into the cytoplasm. This process starts at the start sequence (start codon) and stops at the stop sequence (stop codon)

Translation begins with methionene

85
Q

What are the different types of mutations?

Which is most likely to cause complete loss of protein function?

A

1) Substitution
2) Insertion
3) Deletion

> > > Insertion / Deletion

86
Q

Describe frameshift

A

The most severe mutation when codins are scrambled after the mutation

87
Q

Describe the central dogma of genetics

A

1) Genes are inherited as dna
2) DNA is transcribed into RNA
3) RNA is translated into protein
4) Proteins are what give an organism its traits

88
Q

What is anatomy?

A

the study of the STRUCTURE of an organism

89
Q

What is physiology?

A

the study of the FUNCTION of an organism’s structural equipment

ie….how the body works

90
Q

Describe the relationship of cells, tissues, organs, and organ systems

A

Cells come together to make up tissue (ex. connective)

Tissue come together to make an organ (ex. heart)

Organs come together to make an organ system (respiratory system)

Organ systems make up an entire organism

91
Q

Definition of tissue

A

a group of individual cells that perform a specific function

92
Q

What are the 4 types of tissues?

A

1) Muscle
2) Connective
3) Epithelial
4) Nervous

93
Q

Describe epithelial tissue

A

Outer layers of skin in sheets

94
Q

Describe connective tissue

A

Sparse populations of cells found in cellular matrix.

95
Q

List 3 types of muscle tissue

A

1) Skeletal
2) Cardiac
3) Involuntary

96
Q

Function of nervous tissue

A

Electrical signaling in our body

97
Q

Define Organ

A

Consists of moultiple tissues working to perform a specific function

98
Q

Define Organ System

A

Multiple organs working together to perform a vital function for the body

99
Q

Define homeostasis

A

Involves the body maintaining constant internal conditions even when external conditions are changing

100
Q

List 2 steps to homeostasis

A

1) Continual monitoring

2) Regulatory processes

101
Q

Describe negative feedback loops

A

maintains homeostasis by turning off or reducing a regulatory process (ac or heater)

102
Q

Describe positive feedback

A

Increases the speed or intensity of a process (contractions like childbirth)

103
Q

Define thermoregulation

A

maintenance of internal temperatures

104
Q

What are two examples of thermoregulation in humans

A

1) Sweating

2) Shivering

105
Q

Define endotherm

A

Majority of body heat comes from metabolism

106
Q

Define ectotherms

A

Majority of body heat absorbed from environment

107
Q

What is a fever and how is it caused?

A

A rise in body temperature in order to aid in fighting off infection

108
Q

Define osmoregulation

A

The control of the gain or loss of water or dissolved solutes

109
Q

Define Osmoconformer

A

Organisms whose internal and external environments have similar solute concentrations

110
Q

Define Osmoregulator

A

Organisms who actively regulate their water loss or gain

111
Q

What does it mean that DNA replication is semiconservative

A

It means the the new dna has a part of the old dna (strand)