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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
Q

Outward expression of your genes (what you can observe).

A

Phenotype.

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26
Q

The percentage of times an allele will affect the phenotype.

A

Variable Penetrance.

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27
Q

Even if a trait is expressed, it may not be expressed to the same degree.

A

Variable Expressivity.

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28
Q

Genetic traits governed by DNA in the Mitochondria through the maternal line.

A

Mitochondrial Inheritance.

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29
Q

Pictoral display of inheritance of traits throughout the generations.

A

Pedigree Chart.

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30
Q

Uses a Punnett Square to describe offspring outcomes.

A

Mendelian Inheritance.

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31
Q

Found on the non-sex chromosome, equally inherited by both sexes, no skipped generations and conditions exist in the same proportion in both sexes.

A

Autosomal (somatic) traits.

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32
Q

Found on the sex chromosome and result in different percentages of illness in male vs. female persons.

A

Sex-linked traits.

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33
Q

If the trait is found on one of the chromosomes, it will be expressed.

A

Autosomal dominance.

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34
Q

Sometimes dominance may be shared:

A

Co-dominance.

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35
Q

The trait will only be expressed if both chromosomes have the trait.

A

Autosomal recessive.

36
Q

Increased amount of recessive disorders in families with a history of intermarriage.

A

Consanguinity.

37
Q

Threshold effect:

A

Mosaicism.

38
Q

Disease affecting young children (mitochondrial genetic disease). Includes progressive hemiparesis & hemianopsia, cortical blindness, and dementia due to multiple strokes and encephalomalacia. (ragged red fibers).

A

MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes).

39
Q

Mitochondrial genetic disease that affects young children. Symptoms include progressive ataxia, nystagmus, dysarthria, myoclonic seizure disorder and sometimes dementia. (ragged red fibers).

A

MERRF (Myoclonus epilepsy & ragged-red fibers).

40
Q

Mitochondrial genetic disease that presents progressive ophthalmoplegia & pigmentary retinopathy. Hearing loss, short stature, endocrinopathies and dementia. Is a variant of KSS.

A

CPEO (Chronic progressive external ophthalmoplegia). ATPase 6 mutation syndrome expresses similar syndromes.

41
Q

Mitochondrial genetic disease that presents brainstem and respiratory findings.

A

Leigh disease (subacute necrotizing encephalomyelopathies).

42
Q

Mitochondrial genetic disease that causes bilateral blindness occuring in teenage years.

A

Leber Hereditary Neuroretinopathy.

43
Q

Mitochondrial genetic disease that is lethal in infancy. Causes anemia, progressive pancreatic & liver failure.

A

Pearson syndrome.

44
Q

A general term for a disease that affects the brain or spinal cord.

A

Encephalomyopathy.

45
Q

Accumulation of lactate due to glycolysis.

A

Lactic Acidosis.

46
Q

Paralysis of half the body.

A

Hemiparesis.

47
Q

Decreased blindness in half your visual field.

A

Hemianopsia.

48
Q

Degeneration/softening of brain tissue.

A

Encephalomalacia.

49
Q

Lack of voluntary/coordinated movement.

A

Ataxia.

50
Q

Eyes rapidly move back and forth.

A

Nystagmus.

51
Q

Difficulty speaking.

A

Dysarthria.

52
Q

Paralysis of eye muscles. Oftentimes one eye won’t follow while the other does.

A

Ophthalmoplegia.

53
Q

Type of Mitochondrial myopathy.

A

Kearns-Sayre Syndrome.

54
Q

Retinal degeneration/night blindness. Peripheral vision declines.

A

Pigmentary Retinopathy.

55
Q

Same language DNA–>mRNA.

A

Transcription.

56
Q

4 Nitrogenous bases of RNA:

A
  1. Adenine. 2. Cytosine. 3. Guanine. 4. Uracil.
57
Q

Different language DNA/mRNA–>proteins (amino acids).

A

Translation.

58
Q

On Rough ER-site of protein synthesis in the cell.

A

rRNA (ribosomal).

59
Q

Transports amino acids to the mRNA to manufacture proteins at the ribosome. There are 20 types.

A

tRNA (transfer).

60
Q

4 types of this (newly discovered). 1. small nuclear. 2. small nucleolar. 3. small interfering. 4. micro-RNA.

A

“small” RNA.

61
Q

Remember what happened in the individuals lifetime and affects what portions of the DNA are expressed.

A

Epigenome/epigenetics.

62
Q

Loosens histone proteins and allows transcription.

A

Acetylation/acetyl tags.

63
Q

Tightens histone proteins to prevent transcription.

A

Methylation/methyl tags.

64
Q

On the lagging strand, primase creates RNA fragments and joins them together.

A

Okazaki fragments.

65
Q

A mutation in which the wrong base pair is inserted.

A

Base pair substitution.

66
Q

A mutation caused by additions or deletions.

A

Frameshift mutations.

67
Q

In a normal non-mutated state these genes control cell division.

A

Proto-oncogenes.

68
Q

In a mutated state, proto-oncogenes are called this. Example: mutated p53 gene. (TP53).

A

Oncogenes.

69
Q

Natural/programmed cell death.

A

Apoptosis.

70
Q

Cell death via mechanisms in response to extreme stress.

A

Necrosis.

71
Q

Replication of all the chromosomes to make another diploid cell.

A

Mitosis.

72
Q

Replication and division to create a haploid cell.

A

Meiosis.

73
Q

Phases of Mitosis:

A
  1. Interphase. 2. Metaphase. 3. Anaphase. 4. Telophase.
74
Q

PDGF=

A

Platelet Derived Growth Factor.

75
Q

This becomes shortened after multiple replications. Called the molecular clock.

A

Telomere.

76
Q

An enzyme that prevents the normal shortening of the chromosome at the telomere, and therefore allows indefinite cell division.

A

Telomerase.

77
Q

Non-separation of the sister chromosomes during meiosis.

A

Non-disjunction errors.

78
Q

One extra chromosome #21-Down Syndrome.

A

Trisomy-21.

79
Q

Loss of one X-chromosome causing Turner’s syndrome.

A

Monosomy-X.

80
Q

Klinefelter syndrome.

A

47,XXY.

81
Q

An ordered, numbered display of chromosomes.

A

Karyotype.

82
Q

Withdrawing amniotic fluid at 16 weeks.

A

Amniocentesis.

83
Q

Sampling cells earlier in gestation at 8 weeks.

A

Chorionic Villus Sampling (CVS).

84
Q

Caused by a mutation in a single gene.

A

Monogenic.

85
Q

One nucleotide difference in sequence.

A

Single Nucleotide Polymorphisms (SNPs).

86
Q

GWAS:

A

Genome-Wide Association Studies.

Path/Pharm Unit/Exam 1 (5 decks)

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