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451 - Pharmacology > Unit 1: Genetics > Flashcards

Unit 1: Genetics Flashcards

1
Q

Negative feedback is necessary for most _____ systems.

A

healthy

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2
Q

Negative feedback occurs over and over again in both health and _____ states.

A

pathologic

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3
Q

Negative feedback means that the production of a final metabolic product will feedback to the very beginning of the process that started this biosynthesis, and will turn the whole synthetic _______.

A

process off

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4
Q

In the chromosome, there is _______ to the promoter area of the operon, which will turn off the operon, once the final product is made. So the production is stopped, which is fine now the body has some now.

A

negative feedback

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5
Q

You will see that pathologic states are almost always the result of normal negative feedback being ____, so that production of the final product doesn’t result in turning off the machinery.

A

interrupted

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6
Q

Negative Feedback Cycle

A
  1. Stimulus - produces change in variable
  2. Receptor - detects change
  3. Input - info sent along afferent pathway to control center
  4. Output - info sent along efferent pathway to effector
  5. Response - of effector feeds back to reduce the effect of stimulus and returns variable to homeostatic level
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7
Q

Physiology example of Negative Feedback

A 
Cold Exposure
Hypothalamus
Thyrotropin-releasing hormone released
Anterior pituitary
Releases Thyrotropin
Thyroid releases thyroxine - increases heat production
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8
Q

_____ feedback is where the final product further stimulates more of its own production, leading to poisonous buildup of substances or failure to take the next step in a metabolic pathway.

A

Positive

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9
Q

Positive feedback can by physiologic, but only a few processes in healthy systems use ______ feedback.

A

positive

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10
Q

With positive feedback failure to turn off a process leads to ______.

A

disease

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11
Q

Typically we need to stimulate some processes with positive feedback, but then put on the brakes to prevent the system accelerating to an ______ state.

A

extreme

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12
Q

Example of positive feedback is when a blood clot is formed . Just enough clotting, not too much, _____.

A

not too little

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13
Q

Mendel’s work with genetics involved ____.

A

punnett squares

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14
Q

The ____ is the basic unit of inheritance.

A

gene

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15
Q

Deletions, additions, and _____ can contribute to human disease states.

A

abnormal

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16
Q

New findings support that interaction of environment with genetic material starts as early as the ________.

A

blastocyst stage

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17
Q

Genes that are active from fetal stage onwards are powerfully affected by _____ .

A

environment

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18
Q

A _____ is information contained in chemical sequences that code for one unique protein.

A

gene

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19
Q

_____ can also control actions in the cell, turn on/off cellular processes, begin/terminate metabolic pathways, etc. because they create enzymes and other types of proteins, not just structural proteins.

A

genes

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20
Q

Not all of our DNA is made up of ____.

A

genes

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21
Q

Much of the DNA is made of areas that control ____ not just genes.

A

genetic activity

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22
Q

The part of the gene that actually provides the information code to make the protein in the cell is called the ____.

A

exon

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23
Q

For many years, people assumed that areas of DNA that don’t code for information were junk or dark areas of DNA and had no purpose. Newer research indicates that these areas have impact on ____ function and also pathology.

A

cellular

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24
Q

Deoxyribonucleic acid is ____

A

DNA

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25
Q

There are 4 types of nitrogenous bases that pair up as complementary base pairs.

A

Guanine - Cytosine

Adenine - Thymine

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26
Q

Every sequence of ___ base pairs will code for one of the 20 amino acids used to make human proteins.

A

3

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27
Q

Three base pairs equal ____.

A

1 codon

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28
Q

DNA is all about making _____. It is the blueprint for your proteins - nothing else.

A

proteins

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29
Q

Chromosomes is where our _____ is in the nucleus of our cells.

A

DNA

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30
Q

_____ cells have 22 homologous pairs of somatic chromosomes and 1 pair of ____ chromosomes.

A

autosomal or somatic

sex

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31
Q

_____ cells have the correct number of chromosomes.

A

Euploid

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32
Q

_____ means there is not an exact multiple of 23 chromosomes. Example: one extra chromosome in a given pair

A

Aneuploidy

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33
Q

_____ too many full sets of chromosomes (triploidy, tetraploidy - these usually abort spontanesouly.

A

polyploidy

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34
Q

A _____ chromosome presence always results in male genitalia.

A

Y

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35
Q

If more than one X chromosome results in males it can cause sterility and _____.

A

retardation

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36
Q

Human DNA’s structure

A

double helix

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37
Q

In lower life forms such as ____, the DNA may be single stranded and exist freely in the cell.

A

viruses

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38
Q

DNA can be separated by heat and ____.

A

chemicals

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39
Q

The central Dogma Belief System of Genetics states that through the production of mRNA (transcription) and the synthesis of proteins (translation), the information contained in DNA is ____.

A

expressed.

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40
Q

DNA is organzied into codons, genes (with introns and exons), operons, alleles for traits to determine our ______.

A

heritable material

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41
Q

Transcription is ____ to ___.

A

DNA to RNA

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42
Q

Translation is ____ to ____.

A

RNA to protein

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43
Q

_____ are a collection of genes coding for a certain trait occupying a certain place on its specific chromosome called a locus.

A

alleles

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44
Q

Most human traits are ____ (eye color) and therefore called polymorphic - the trait exists in a variety of forms.

A

variable

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45
Q

Allele = ____

A

trait

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46
Q

An allele is a genetic information to form observable ____ is contained in an area of the chromosome called a locus, containing all the necessary operons for that trait.

A

traits

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47
Q

In our ___ cells, there are two alleles per person, since each chromosome in a homologous chromosome pair has its own allele for this trait (one from mom and one from dad)

A

diploid

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48
Q

Variations in the trait occur because there may be different types of alleles for this _______.

A

particular trait

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49
Q

Traits may be very complex (i.e. intelligence) or ____ (eye color, type of hemoglobin)

A

simple

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50
Q

____ is the same allele for a trait is found on each chromosome of the pair.

A

homozygous

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51
Q

_____ is different alleles for the trait are found on each chromosome of the pair (i.e. one allele could be for brown eyes, one for blue)

A

heterozygous

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52
Q

_____ are the inherited genes on the chromosomes.

A

genotype

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53
Q

_____ is the outward expression of your genes (what you can observe, measure, quantify) i.e. type of cholesterol abnormality or your hair or eye color

A

phenotype

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54
Q

Most human traits are multifactorial also known as _____. This is when several geves work together to produce the trait defined by an allele. i.e. height, cleft palate

A

polygenic

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55
Q

Variable _____ is the percentage of times an allele will affect the phenotype (may not always “penetrate” to the phenotype)

A

penetrance

i.e. retinoblastoma of children - every child with the gene may not develop this cancer

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56
Q

Variable ______ means even if expressed, it may not be expressed to the same degree. Thus, severity of the disease will vary.

A

expressivity

i.e. neural tube, neurofibromatosis, hemophilia A

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57
Q

_____ inheritance is when genetic traits are governed by DNA in the mitochondria is through the maternal line only, since only the egg has mitochondria.

A

mitochondrial

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58
Q

_____ is a pictorial display of inheritance of traits throughout the generations (normal traits or illness)

A

pedigree chart

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59
Q

Mendelian inheritance uses a _____ to describe offspring outcomes.

A

punnett square

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60
Q

There are other types of ____ that do not follow Mendelian laws.

A

genetic inheritance

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61
Q

_______ traits are found on the non-sex chromosomes, equally inherited by both sexes, no skipping of generation and conditions exist in same proportion in both sexes.

A

Autosomal (somatic)

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62
Q

_________ are found on the sex chromosome (X chromosome) and result in different percentages of illness in male vs. female persons.

A

Sex-linked traits

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63
Q

If an autosomal trait is dominant, it will be _____.

A

expressed

64
Q

Sometimes, the dominance relationship is “shared” and there is _______.

A

co-dominance

65
Q

Brown eyes are dominant over blue eyes

A

example of dominance

66
Q

Blood type antigens result in codominant expressions

A

example of codominance

67
Q

Autosomal recessive is only expressed if ____ chromosomes have the trait.

A

both

68
Q

Since males and females inherit the trait equally, ____ are often affected by autosomal recessive traits.

A

siblings

69
Q

There are an increased amount of recessive disorders in families with a history of ____

A

inbreeding

70
Q

If the allele is dominant, then this trait will appear in the phenotype for any ______ with this allele (homozygous or heterozygous).

A

genotype

71
Q

If the alleles is recessive, the you must have a ______ genotype for this trait to be seen in the phenotype.

A

homozygous recessive

72
Q

With sex linked traits the allele is located on the ______ and boys will be seen to show a higher proportion of inheritance, sincere there are not corresponding alleles on the Y chromosome in loci that correspond to the known - sex linked diseases. Only females will be carriers.

A

X chromosome

73
Q

Mitochondrial inheritance does not use ______ genetics.

A

Mendelian

74
Q

With mitochondrial inheritance the pedigree chart will always be _____ because all your mitochondria come from MOM!

A

maternal

75
Q

Atypical inheritance patterns result from mitochondrial DNA mutations, inherited through the _____.

A

maternal line

76
Q

In general, all mitochondria in a person’s body come from the ________, non from the father’s sperm (only rarely does the sperm contribute mitochondria and thus contribute to mitochondrial genetic diseases.

A

mother’s egg

77
Q

Mitochondrial DNA is in the form of _____ chromosomes.

A

circular

78
Q

Most mitochondrial inheritance mutations are ______.

A

deletions

79
Q

Most mitochondrial inheritance mutations result in disease of ______, eye, and muscle.

A

brain

80
Q

All offspring (both sexes equally) of an affected female will be affected, and no offspring of an affected _____ (since it is passed via the maternal line). Most of these syndromes are so sever as to be nearly incompatible with life therefore diagnosed in the neonatal or infancy period.

A

male

81
Q

Since more than one mitochondria is in inherited and passed along with the developing fetal cells, there is a ________ of normal and abnormal mitochondria. Some tissues get good mitochondria, others get the affected mitochondria

A

mosaicism - composed of cells of more than one type

82
Q

Mitochondria mutations might particularly affect the muscle and ____ cells , due to their high energy requirements and dependence on the mitochondria for energy production.

A

brain

83
Q

Some theories state that accumulated genomic mutations in mitochondria play a role in _____.

A

aging

84
Q

Other mutation theories state that the normal structure and function of the genome is designed to cause eventual _____.

A

cell death

85
Q

Mitochondrial genetic diseases are mostly the result of deletions and often result in disease of brain, ____ and muscle.

A

eye

86
Q

MELAS stands for _______ which is a devastating disease affecting young children, progressive hemiparesis and hemianopsia, cortical blindness, and dementia due to multiple strokes & encephalomalacia.

A

mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes

87
Q

MERRF ______ is a devastating disease, affecting young children progressive ataxia/nystagmus/dysathria and myoclonic seizure disorder, sometimes dementia)

A

myoclonus epilepsy and ragged red fibers

88
Q

transcription

A

?

89
Q

translation

A

?

90
Q

rRNA

A

?

91
Q

tRNA

A

?

92
Q

small RNA

A

?

93
Q

The _____ remembers what happened in the individuals lifetime and affects what portions of the DNA are expressed.

A

epigenome

94
Q

Epigenome is also _____ and can be passed along to the offspring.

A

hereditable

95
Q

the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself.

A

epigenetics

96
Q

DNA _____ by uncoiling and unpairing.

A

replicates

97
Q

_______ are often the result of this DNA replication process becoming damaged.

A

Mutations

98
Q

Mutations can occur when the wrong _____ is inserted.

A

base pair

99
Q

_____ mutations occur due to additions or deletions.

A

frameshift

100
Q

Are all mutations a cause of disease?

A

no

101
Q

Mutations can be ______, abnormal DNA but doesn’t cause illness.

A

silent

102
Q

Mutations may actually _____ disease.

A

cause

103
Q

Mutations can also be part of the ______ functioning of a cell.

A

normal

104
Q

Mutations can be ______, and some genes are more prone to mutation (hot spots_ and occur at rate of 1:10,000 or higher.

A

spontaneous

105
Q

_____ are environmental factors that initiate or promote mutations.

A

mutagens

106
Q

Mutagens include ionizing radiation, drugs, and _____.

A

chemicals

107
Q

____ produce fetal abnormalities and may or may not be traced to genetic mutations.

A

teratogens

108
Q

In the normal (non-mutated) state these genes are called _____ and control cell division.

A

proto-oncogenes

109
Q

In the mutated stated we call proto-oncogenes, ______.

A

oncogenes

110
Q

Oncogenes are cancer ____ genes.

A

promoting

111
Q

How does proto-oncogene become and oncogene? Usually acquired via ______ and can be inherited.

A

environmental triggers

112
Q

A mutated p53 gene is an ___, also called tumor protein 53 gene or TP53.

A

oncogene

113
Q

P53 is actually a gene that normally is a ____ suppressor gene.

A

tumor

114
Q

P53 makes a protein (TP53) that suppresses cell division and is called the guardian of the genome - if DNA is damaged, the TP53 protein activates genes to repair the genetic ____.

A

damage

115
Q

When P53 is mutated it allows the formation of _____ and acts as an oncogene.

A

oncogene

116
Q

Many very aggressive cancers are associated with _____.

A

p53 mutations

117
Q

_____ is natural cell death, sometimes called programmed cell death (term literally means dropping off), sometimes called cell suicide.

A

apoptosis

118
Q

In early organ formation, more cells than are needed are created, and then the organ is formed by loss of excess cells as part of _____.

A

differentiation

119
Q

In ______ the body against damaged cells - cells are told to commit cell suicide if they have damage that cannot be repaired.

A

protecting

120
Q

Pro-apoptotic factors include free radicals and some ____.

A

viruses

121
Q

This “cell-suicide” may also be due to lack of ________ that stimulate continued healthy activity.

A

tonic hormonal factors

122
Q

Importance in aging theory - the _____ is a theorectical limit to cellular application (40-60 times), then processes break down and “programmed cell death” (optosis) occurs.

A

Hayflick Limit

123
Q

____ is cell death via other mechanism in response to extreme stress.

A

necrosis

124
Q

Some theories discuss necrosis as being chaotic and _____.

A

uncontrolled

125
Q

Other theories have evidence that _____ of some control of the process and use the term “necroptosis”

A

necrosis

126
Q

_____ medicine involves using stem cells to replace cells in degenerative disorders.

A

regenerative

127
Q

Regenerative medicine is used in degenerative disorders such as Alzheimer’s dementia, and ____.

A

parkinson’s disease

128
Q

Sources of ______ can be mesenchymal stem cells (MSCs) from blood, or embryonic stem cells, or adult stem cells.

A

stem cells

129
Q

The protocols involving use of stem cells often includes “stressing” the cells by chemical applications before _____, to take advantage of hormesis.

A

transplantation

130
Q

Use of ____ stem cells has removed much of the stigma of stem cell therapy.

A

adult

131
Q

_____ is the replication of all the chromosomes to make up another diploid cell, exactly like the first cell.

A

mitosis

132
Q

In mitosis the original cell is the “mother” which gives rise to two _______.

A

daughters

133
Q

Mitosis happens in all ____ cells.

A

somatic

134
Q

______ is replication and division of the “mother” cell in the gonads (germ plasm) to create haploid cells that only contain 23 chromosomes - 1/2 of each pair.

A

Meiosis

135
Q

When the two haploid cells (ovum, sperm) combine, the number jumps back to diploid, and undergoes _______ to create another complete organism (fetus)

A

mitosis

136
Q

_____ is sexual reporduction

A

meiosis

137
Q

Meiosis occurs in the cells of the _____.

A

gonads (germ plasm)

138
Q

____ are made up of specialized cells in specialized structures.

A

organs

139
Q

Some ____ cells (nerve, lens cells, muscle cells) can’t divide any longer.

A

specialized

140
Q

Damage to these specialized cells results in fibrosis healing (scar tissue), rather than ______ of original architecture and cellular function.

A

renewal

141
Q

Recently discovered that _______ cells can actually regenerate under the right conditions - it was previously thought that it was impossible for these specialized cells to divide and regenerate tissue.

A

cardiac muscle

142
Q

Rapidly dividing cells include the intestine, skin, and _____.

A

lung

143
Q

Rapidly dividing cells may be especially susceptible to ______ radiation (DNA breakage leading to cancerous mutations).

A

ionizing

144
Q

The cell that is going through division is called the ____.

A

mother cell

145
Q

During the cell cycle DNA replicates and undergoes nuclear division, ______. The cell grows in size and splits known as cytokinesis. Two ____ cells are formed.

A

mitosis

daughter

146
Q

Mitosis is necessary so the body can maintain _____, to keep up with growth and replace dead cells.

A

cell mass

147
Q

Mitosis is not part of _____ reproduction and there is no sharing of DNA from one individual to another.

A

sexual reproduciton

148
Q

Phases of Mitosis & cytokinesis

A

Interphase
Metaphase
Anaphase
Telophase

149
Q

Cells respond to growth factors by _____ with cell receptors.

A

interaction

150
Q

By definition, any chemical that can react with a cell receptor is called a ____.

A

ligand

151
Q

The receptor protein has a particular shape due to the way it is folded up in _____.

A

3D space

152
Q

The function of the receptor, just like the function of any protein, is therefore based on this unique shape and the ligand can interact with the receptor because it _____ to the space and also interacts based on similar atrractive/repulsive forces between the chemical components of the ligand and the receptor.

A

fits in

153
Q

Once the ligand/receptor interaction takes place, _______ occurs - the signal is the actual interaction of the ligand and receptor and transduction means converting that signal into something else.

A

signal transduction

154
Q

In the case of growth factors, and sterol (steroid) hormones, the effect is to turn on chromosome transcription of mRNA, which in turn is sent to the ________ to make new proteins (translation).

A

cytoplasm

155
Q

telomere

A

?

156
Q

telomerase p

A

p25

157
Q

p 25 - 28 genes

A

?

451 - Pharmacology (6 decks)

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