Unit 1: Genetics Flashcards
(157 cards)
1
Q
Negative feedback is necessary for most _____ systems.
A
healthy
2
Q
Negative feedback occurs over and over again in both health and _____ states.
A
pathologic
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
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
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
6
Q
Negative Feedback Cycle
A
- Stimulus - produces change in variable
- Receptor - detects change
- Input - info sent along afferent pathway to control center
- Output - info sent along efferent pathway to effector
- Response - of effector feeds back to reduce the effect of stimulus and returns variable to homeostatic level
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
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
9
Q
Positive feedback can by physiologic, but only a few processes in healthy systems use ______ feedback.
A
positive
10
Q
With positive feedback failure to turn off a process leads to ______.
A
disease
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
12
Q
Example of positive feedback is when a blood clot is formed . Just enough clotting, not too much, _____.
A
not too little
13
Q
Mendel’s work with genetics involved ____.
A
punnett squares
14
Q
The ____ is the basic unit of inheritance.
A
gene
15
Q
Deletions, additions, and _____ can contribute to human disease states.
A
abnormal
16
Q
New findings support that interaction of environment with genetic material starts as early as the ________.
A
blastocyst stage
17
Q
Genes that are active from fetal stage onwards are powerfully affected by _____ .
A
environment
18
Q
A _____ is information contained in chemical sequences that code for one unique protein.
A
gene
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
20
Q
Not all of our DNA is made up of ____.
A
genes
21
Q
Much of the DNA is made of areas that control ____ not just genes.
A
genetic activity
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
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
24
Q
Deoxyribonucleic acid is ____
A
DNA
25
There are 4 types of nitrogenous bases that pair up as complementary base pairs.
Guanine - Cytosine
| Adenine - Thymine
26
Every sequence of ___ base pairs will code for one of the 20 amino acids used to make human proteins.
3
27
Three base pairs equal ____.
1 codon
28
DNA is all about making _____. It is the blueprint for your proteins - nothing else.
proteins
29
Chromosomes is where our _____ is in the nucleus of our cells.
DNA
30
_____ cells have 22 homologous pairs of somatic chromosomes and 1 pair of ____ chromosomes.
autosomal or somatic
| sex
31
_____ cells have the correct number of chromosomes.
Euploid
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_____ means there is not an exact multiple of 23 chromosomes. Example: one extra chromosome in a given pair
Aneuploidy
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_____ too many full sets of chromosomes (triploidy, tetraploidy - these usually abort spontanesouly.
polyploidy
34
A _____ chromosome presence always results in male genitalia.
Y
35
If more than one X chromosome results in males it can cause sterility and _____.
retardation
36
Human DNA's structure
double helix
37
In lower life forms such as ____, the DNA may be single stranded and exist freely in the cell.
viruses
38
DNA can be separated by heat and ____.
chemicals
39
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 ____.
expressed.
40
DNA is organzied into codons, genes (with introns and exons), operons, alleles for traits to determine our ______.
heritable material
41
Transcription is ____ to ___.
DNA to RNA
42
Translation is ____ to ____.
RNA to protein
43
_____ are a collection of genes coding for a certain trait occupying a certain place on its specific chromosome called a locus.
alleles
44
Most human traits are ____ (eye color) and therefore called polymorphic - the trait exists in a variety of forms.
variable
45
Allele = ____
trait
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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.
traits
47
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)
diploid
48
Variations in the trait occur because there may be different types of alleles for this _______.
particular trait
49
Traits may be very complex (i.e. intelligence) or ____ (eye color, type of hemoglobin)
simple
50
____ is the same allele for a trait is found on each chromosome of the pair.
homozygous
51
_____ 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)
heterozygous
52
_____ are the inherited genes on the chromosomes.
genotype
53
_____ 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
phenotype
54
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
polygenic
55
Variable _____ is the percentage of times an allele will affect the phenotype (may not always "penetrate" to the phenotype)
penetrance
| i.e. retinoblastoma of children - every child with the gene may not develop this cancer
56
Variable ______ means even if expressed, it may not be expressed to the same degree. Thus, severity of the disease will vary.
expressivity
| i.e. neural tube, neurofibromatosis, hemophilia A
57
_____ inheritance is when genetic traits are governed by DNA in the mitochondria is through the maternal line only, since only the egg has mitochondria.
mitochondrial
58
_____ is a pictorial display of inheritance of traits throughout the generations (normal traits or illness)
pedigree chart
59
Mendelian inheritance uses a _____ to describe offspring outcomes.
punnett square
60
There are other types of ____ that do not follow Mendelian laws.
genetic inheritance
61
_______ 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.
Autosomal (somatic)
62
_________ are found on the sex chromosome (X chromosome) and result in different percentages of illness in male vs. female persons.
Sex-linked traits
63
If an autosomal trait is dominant, it will be _____.
expressed
64
Sometimes, the dominance relationship is "shared" and there is _______.
co-dominance
65
Brown eyes are dominant over blue eyes
example of dominance
66
Blood type antigens result in codominant expressions
example of codominance
67
Autosomal recessive is only expressed if ____ chromosomes have the trait.
both
68
Since males and females inherit the trait equally, ____ are often affected by autosomal recessive traits.
siblings
69
There are an increased amount of recessive disorders in families with a history of ____
inbreeding
70
If the allele is dominant, then this trait will appear in the phenotype for any ______ with this allele (homozygous or heterozygous).
genotype
71
If the alleles is recessive, the you must have a ______ genotype for this trait to be seen in the phenotype.
homozygous recessive
72
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.
X chromosome
73
Mitochondrial inheritance does not use ______ genetics.
Mendelian
74
With mitochondrial inheritance the pedigree chart will always be _____ because all your mitochondria come from MOM!
maternal
75
Atypical inheritance patterns result from mitochondrial DNA mutations, inherited through the _____.
maternal line
76
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.
mother's egg
77
Mitochondrial DNA is in the form of _____ chromosomes.
circular
78
Most mitochondrial inheritance mutations are ______.
deletions
79
Most mitochondrial inheritance mutations result in disease of ______, eye, and muscle.
brain
80
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.
male
81
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
mosaicism - composed of cells of more than one type
82
Mitochondria mutations might particularly affect the muscle and ____ cells , due to their high energy requirements and dependence on the mitochondria for energy production.
brain
83
Some theories state that accumulated genomic mutations in mitochondria play a role in _____.
aging
84
Other mutation theories state that the normal structure and function of the genome is designed to cause eventual _____.
cell death
85
Mitochondrial genetic diseases are mostly the result of deletions and often result in disease of brain, ____ and muscle.
eye
86
MELAS stands for _______ which is a devastating disease affecting young children, progressive hemiparesis and hemianopsia, cortical blindness, and dementia due to multiple strokes & encephalomalacia.
mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes
87
MERRF ______ is a devastating disease, affecting young children progressive ataxia/nystagmus/dysathria and myoclonic seizure disorder, sometimes dementia)
myoclonus epilepsy and ragged red fibers
88
transcription
?
89
translation
?
90
rRNA
?
91
tRNA
?
92
small RNA
?
93
The _____ remembers what happened in the individuals lifetime and affects what portions of the DNA are expressed.
epigenome
94
Epigenome is also _____ and can be passed along to the offspring.
hereditable
95
the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself.
epigenetics
96
DNA _____ by uncoiling and unpairing.
replicates
97
_______ are often the result of this DNA replication process becoming damaged.
Mutations
98
Mutations can occur when the wrong _____ is inserted.
base pair
99
_____ mutations occur due to additions or deletions.
frameshift
100
Are all mutations a cause of disease?
no
101
Mutations can be ______, abnormal DNA but doesn't cause illness.
silent
102
Mutations may actually _____ disease.
cause
103
Mutations can also be part of the ______ functioning of a cell.
normal
104
Mutations can be ______, and some genes are more prone to mutation (hot spots_ and occur at rate of 1:10,000 or higher.
spontaneous
105
_____ are environmental factors that initiate or promote mutations.
mutagens
106
Mutagens include ionizing radiation, drugs, and _____.
chemicals
107
____ produce fetal abnormalities and may or may not be traced to genetic mutations.
teratogens
108
In the normal (non-mutated) state these genes are called _____ and control cell division.
proto-oncogenes
109
In the mutated stated we call proto-oncogenes, ______.
oncogenes
110
Oncogenes are cancer ____ genes.
promoting
111
How does proto-oncogene become and oncogene? Usually acquired via ______ and can be inherited.
environmental triggers
112
A mutated p53 gene is an ___, also called tumor protein 53 gene or TP53.
oncogene
113
P53 is actually a gene that normally is a ____ suppressor gene.
tumor
114
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 ____.
damage
115
When P53 is mutated it allows the formation of _____ and acts as an oncogene.
oncogene
116
Many very aggressive cancers are associated with _____.
p53 mutations
117
_____ is natural cell death, sometimes called programmed cell death (term literally means dropping off), sometimes called cell suicide.
apoptosis
118
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 _____.
differentiation
119
In ______ the body against damaged cells - cells are told to commit cell suicide if they have damage that cannot be repaired.
protecting
120
Pro-apoptotic factors include free radicals and some ____.
viruses
121
This "cell-suicide" may also be due to lack of ________ that stimulate continued healthy activity.
tonic hormonal factors
122
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.
Hayflick Limit
123
____ is cell death via other mechanism in response to extreme stress.
necrosis
124
Some theories discuss necrosis as being chaotic and _____.
uncontrolled
125
Other theories have evidence that _____ of some control of the process and use the term "necroptosis"
necrosis
126
_____ medicine involves using stem cells to replace cells in degenerative disorders.
regenerative
127
Regenerative medicine is used in degenerative disorders such as Alzheimer's dementia, and ____.
parkinson's disease
128
Sources of ______ can be mesenchymal stem cells (MSCs) from blood, or embryonic stem cells, or adult stem cells.
stem cells
129
The protocols involving use of stem cells often includes "stressing" the cells by chemical applications before _____, to take advantage of hormesis.
transplantation
130
Use of ____ stem cells has removed much of the stigma of stem cell therapy.
adult
131
_____ is the replication of all the chromosomes to make up another diploid cell, exactly like the first cell.
mitosis
132
In mitosis the original cell is the "mother" which gives rise to two _______.
daughters
133
Mitosis happens in all ____ cells.
somatic
134
______ 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.
Meiosis
135
When the two haploid cells (ovum, sperm) combine, the number jumps back to diploid, and undergoes _______ to create another complete organism (fetus)
mitosis
136
_____ is sexual reporduction
meiosis
137
Meiosis occurs in the cells of the _____.
gonads (germ plasm)
138
____ are made up of specialized cells in specialized structures.
organs
139
Some ____ cells (nerve, lens cells, muscle cells) can't divide any longer.
specialized
140
Damage to these specialized cells results in fibrosis healing (scar tissue), rather than ______ of original architecture and cellular function.
renewal
141
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.
cardiac muscle
142
Rapidly dividing cells include the intestine, skin, and _____.
lung
143
Rapidly dividing cells may be especially susceptible to ______ radiation (DNA breakage leading to cancerous mutations).
ionizing
144
The cell that is going through division is called the ____.
mother cell
145
During the cell cycle DNA replicates and undergoes nuclear division, ______. The cell grows in size and splits known as cytokinesis. Two ____ cells are formed.
mitosis
| daughter
146
Mitosis is necessary so the body can maintain _____, to keep up with growth and replace dead cells.
cell mass
147
Mitosis is not part of _____ reproduction and there is no sharing of DNA from one individual to another.
sexual reproduciton
148
Phases of Mitosis & cytokinesis
Interphase
Metaphase
Anaphase
Telophase
149
Cells respond to growth factors by _____ with cell receptors.
interaction
150
By definition, any chemical that can react with a cell receptor is called a ____.
ligand
151
The receptor protein has a particular shape due to the way it is folded up in _____.
3D space
152
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.
fits in
153
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.
signal transduction
154
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).
cytoplasm
155
telomere
?
156
telomerase p
p25
157
p 25 - 28 genes
?
