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Path/Pharm Unit/Exam 1 > Path Unit 1 Gene > Flashcards

Path Unit 1 Gene Flashcards

1
Q

The production of the final metabolic product will feedback to the beginning of the process and turn off the whole synthetic process.

A

Negative Feedback.

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2
Q

5 Steps of the Negative Feedback system:

A
  1. Stimulus. 2. Receptor. 3. Input. 4. Output. 5. Response.
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3
Q

The final product further stimulates more of it own production.

A

Positive Feedback.

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4
Q

The basic unit of inheritance. The length of codons that determines the sequence for a unique protein.

A

Gene. ~100,000

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5
Q

The part of the gene that actually provides the information “code” to make the protein in the cell.

A

Exon.

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6
Q

4 Nitrogenous bases of DNA.

A

Cytosine, Thymine, Guanine, and Adenine.

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7
Q

Three base pairs =

A

One codon.

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8
Q

We each have 22 of these pairs.

A

Autosomal (somatic).

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9
Q

We each have 1 pair of these (2 chromosomes):

A

Sex chromosomes.

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10
Q

When cells have the correct number of chromosomes.

A

Euploid.

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11
Q

There is not an exact multiple of 23 chromosomes.

A

Aneuploidy.

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12
Q

Too many full sets of chromosomes.

A

Polyploidy.

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13
Q

The protein in chromosomes that keep DNA together.

A

Histones.

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14
Q

Codons may be these 3 things:

A
  1. Start signs (promoters). 2. Stop signs (termination - nonsense codons). 3. Informational codons calling for an amino acid.
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15
Q

Non coding “nonsense” areas.

A

Introns.

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16
Q

DNA to RNA.

A

Transcription.

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17
Q

RNA to Protein.

A

Translation.

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18
Q

The length of the chromosome for one metabolic pathway. A DNA sequence that contains one or more genes that code for enzymes that together form a biosynthetic pathway leading to a final product.

A

Operon

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19
Q

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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20
Q

The trait exists in a variety of forms.

A

Polymorphic.

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21
Q

Genetic information to form observable traits is contained in an area of the chromosome called a:

A

Locus.

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22
Q

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

A

Homozygous.

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23
Q

Different alleles for the trait are found on each chromosome of the pair.

A

Heterozygous.

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24
Q

Inherited genes on the chromosome.

A

Genotype.

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25
Outward expression of your genes (what you can observe).
Phenotype.
26
The percentage of times an allele will affect the phenotype.
Variable Penetrance.
27
Even if a trait is expressed, it may not be expressed to the same degree.
Variable Expressivity.
28
Genetic traits governed by DNA in the Mitochondria through the maternal line.
Mitochondrial Inheritance.
29
Pictoral display of inheritance of traits throughout the generations.
Pedigree Chart.
30
Uses a Punnett Square to describe offspring outcomes.
Mendelian Inheritance.
31
Found on the non-sex chromosome, equally inherited by both sexes, no skipped generations and conditions exist in the same proportion in both sexes.
Autosomal (somatic) traits.
32
Found on the sex chromosome and result in different percentages of illness in male vs. female persons.
Sex-linked traits.
33
If the trait is found on one of the chromosomes, it will be expressed.
Autosomal dominance.
34
Sometimes dominance may be shared:
Co-dominance.
35
The trait will only be expressed if both chromosomes have the trait.
Autosomal recessive.
36
Increased amount of recessive disorders in families with a history of intermarriage.
Consanguinity.
37
Threshold effect:
Mosaicism.
38
Disease affecting young children (mitochondrial genetic disease). Includes progressive hemiparesis & hemianopsia, cortical blindness, and dementia due to multiple strokes and encephalomalacia. (ragged red fibers).
MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes).
39
Mitochondrial genetic disease that affects young children. Symptoms include progressive ataxia, nystagmus, dysarthria, myoclonic seizure disorder and sometimes dementia. (ragged red fibers).
MERRF (Myoclonus epilepsy & ragged-red fibers).
40
Mitochondrial genetic disease that presents progressive ophthalmoplegia & pigmentary retinopathy. Hearing loss, short stature, endocrinopathies and dementia. Is a variant of KSS.
CPEO (Chronic progressive external ophthalmoplegia). ATPase 6 mutation syndrome expresses similar syndromes.
41
Mitochondrial genetic disease that presents brainstem and respiratory findings.
Leigh disease (subacute necrotizing encephalomyelopathies).
42
Mitochondrial genetic disease that causes bilateral blindness occuring in teenage years.
Leber Hereditary Neuroretinopathy.
43
Mitochondrial genetic disease that is lethal in infancy. Causes anemia, progressive pancreatic & liver failure.
Pearson syndrome.
44
A general term for a disease that affects the brain or spinal cord.
Encephalomyopathy.
45
Accumulation of lactate due to glycolysis.
Lactic Acidosis.
46
Paralysis of half the body.
Hemiparesis.
47
Decreased blindness in half your visual field.
Hemianopsia.
48
Degeneration/softening of brain tissue.
Encephalomalacia.
49
Lack of voluntary/coordinated movement.
Ataxia.
50
Eyes rapidly move back and forth.
Nystagmus.
51
Difficulty speaking.
Dysarthria.
52
Paralysis of eye muscles. Oftentimes one eye won't follow while the other does.
Ophthalmoplegia.
53
Type of Mitochondrial myopathy.
Kearns-Sayre Syndrome.
54
Retinal degeneration/night blindness. Peripheral vision declines.
Pigmentary Retinopathy.
55
Same language DNA-->mRNA.
Transcription.
56
4 Nitrogenous bases of RNA:
1. Adenine. 2. Cytosine. 3. Guanine. 4. Uracil.
57
Different language DNA/mRNA-->proteins (amino acids).
Translation.
58
On Rough ER-site of protein synthesis in the cell.
rRNA (ribosomal).
59
Transports amino acids to the mRNA to manufacture proteins at the ribosome. There are 20 types.
tRNA (transfer).
60
4 types of this (newly discovered). 1. small nuclear. 2. small nucleolar. 3. small interfering. 4. micro-RNA.
"small" RNA.
61
Remember what happened in the individuals lifetime and affects what portions of the DNA are expressed.
Epigenome/epigenetics.
62
Loosens histone proteins and allows transcription.
Acetylation/acetyl tags.
63
Tightens histone proteins to prevent transcription.
Methylation/methyl tags.
64
On the lagging strand, primase creates RNA fragments and joins them together.
Okazaki fragments.
65
A mutation in which the wrong base pair is inserted.
Base pair substitution.
66
A mutation caused by additions or deletions.
Frameshift mutations.
67
In a normal non-mutated state these genes control cell division.
Proto-oncogenes.
68
In a mutated state, proto-oncogenes are called this. Example: mutated p53 gene. (TP53).
Oncogenes.
69
Natural/programmed cell death.
Apoptosis.
70
Cell death via mechanisms in response to extreme stress.
Necrosis.
71
Replication of all the chromosomes to make another diploid cell.
Mitosis.
72
Replication and division to create a haploid cell.
Meiosis.
73
Phases of Mitosis:
1. Interphase. 2. Metaphase. 3. Anaphase. 4. Telophase.
74
PDGF=
Platelet Derived Growth Factor.
75
This becomes shortened after multiple replications. Called the molecular clock.
Telomere.
76
An enzyme that prevents the normal shortening of the chromosome at the telomere, and therefore allows indefinite cell division.
Telomerase.
77
Non-separation of the sister chromosomes during meiosis.
Non-disjunction errors.
78
One extra chromosome #21-Down Syndrome.
Trisomy-21.
79
Loss of one X-chromosome causing Turner's syndrome.
Monosomy-X.
80
Klinefelter syndrome.
47,XXY.
81
An ordered, numbered display of chromosomes.
Karyotype.
82
Withdrawing amniotic fluid at 16 weeks.
Amniocentesis.
83
Sampling cells earlier in gestation at 8 weeks.
Chorionic Villus Sampling (CVS).
84
Caused by a mutation in a single gene.
Monogenic.
85
One nucleotide difference in sequence.
Single Nucleotide Polymorphisms (SNPs).
86
GWAS:
Genome-Wide Association Studies.

Path/Pharm Unit/Exam 1 (5 decks)

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