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Adv Pathophysiology > Chapter 4: Genetic Control > Flashcards

Chapter 4: Genetic Control Flashcards

1
Q

Genetics

A

study of the mechanism of heredity and variations in inherited traits

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2
Q

Genomics

A

study of the function of all the nucleotide sequences (entire genomes of human beings)

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3
Q

Genes

A

specific set of instructions that cells use to produce a specific protein – tells a cell what it will be, how it will function, what traits are going to be expressed

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4
Q

Human Genome

A

all of the DNA that a human being possesses – complete set of genes
humans have approximately 20,000 genes in the body (can vary slightly)

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5
Q

Human Genome (2)

A
  1. 9% of these sequences are almost exactly the same in everyone
  2. 01% accounts for individual differences (physical appearance, behaviors, disease susceptibility)
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6
Q

Gene regulators

A

turn genes “on” and “off” in different cells to maintain control

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7
Q

Germ cells/Gametes

A

sperm and ovum – only contain half set of chromosomes

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8
Q

Haploid

A

set of 23 chromosomes

example: sperm, ovum

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9
Q

Diploid

A

full set of 46 chromosomes

example: zygote

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10
Q

Chromosomes

A

entire chain of DNA, folded in specific way (if not, mutation occur)

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11
Q

Histones

A

protein that provides structural support for chromosomes, DNA is tightly coiled around
control exact folding of the DNA strand

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12
Q

Locus

A

specific location of a gene on a chromosome

used to name certain genes

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13
Q

Pharmacogenetics

A

genes that metabolize drugs either more quickly or slowly - drugs developed specifically with these genes in mind

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14
Q

5 Functions of Genes

A 
directs function of body cells
determines appearance
dictates how we respond to the environment
serves as the unit of inheritance
determines our disease susceptibility
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15
Q

DNA Nitrogenous Bases

A

adenine and thymine

guanine and cytosine

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16
Q

DNA Helicases

A

enzyme that separates the two strands, duplicating genetic information and creating the double helix

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17
Q

Chromatin

A

tightly coiled structure that contain DNA molecules, proteins, and small amount of RNA

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18
Q

Accidental Errors in Replication

DNA Mutations

A

substitution of 1 base pair for another
loss/addition of > 1 base pair
rearrangement of base pairs
causes: spontaneous, environmental, chemicals/radiation

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19
Q

Polymorphisms

A

normal variations in DNA replication

don’t cause problems - body can repair mutations in DNA if caught in time

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20
Q

RNA

A

assembles the amino acids into functional protein during the translation process
differences from DNA: single-stranded, sugar is ribose, and thymine is replaced by uracil

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21
Q

Messenger RNA

A

carries instructions for protein synthesis in sequence of 3 bases (codon)
61 triplets make up a specific amino acid
3 triplets are stop codons to end a protein molecule

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22
Q

Ribosomal RNA

A

interprets the instructions
produces ribosomes
connects amino acids that tRNA have carried into position

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23
Q

Transfer RNA

A

reads the instructions
carries a specific amino acid to the protein being made in the ribosomes and lines up, matching its anticodon to mRNA’s codon

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24
Q

Transcription

A

occurs in the cell nucleus

process where RNA is synthesized from the DNA template (initiated by RNA polymerase)

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25
Translation
occurs in the cytoplasm mRNA acts as a pattern telling the cell how to line up amino acids to form a protein tRNA delivers and transfers amino acids into proper positions on the peptide chain polypeptide chain is released when the termination (stop) codon is read
26
Molecular Chaperones
helps fold up new polypeptide chains (from translation) into its unique 3D conformation and transports it to the cell where it will perform its functions
27
Gene expression
the degree to which a gene or group of genes are actively being transcribed
28
Induction
gene expression is increased
29
Repression
regulatory gene that reduces or prevents gene expression
30
Transcription factors
regulate gene transcription through a negative feedback loop | occurs when levels are too low (induction) or too high (repression)
31
Cytogenetics
study of the structure and numeric characteristics of the cell's chromosomes can be done on any tissue or cell that grows and divides in culture colchicine is used to arrest mitosis in metaphase to be easily observed
32
Karyotype
photographic arrangement of chromosomes
33
Chromosome Structure
takes the form of an X or wishbone pattern P arm - short arm Q arm - long arm
34
Telomere
protects the chromosome during division each time the cell goes through division, the telomere shortens when the telomere is gone, cell can no longer divide
35
Telomerase
produced by cancer cells to continue the production of telomeres = unregulated, infinite cell division
36
Metacentric
centromere located in the middle | arms are similar lengths
37
Submetacentric
centromere is not centered | arms are clearly different lengths
38
Acrocentric
centromeres located at/very near polar ends
39
Mitosis
DNA replication to produce somatic cells each new cell has an identical set of 23 pairs of chromosomes (46 chromosomes total) occurs in a regular pattern (cell cycle)
40
Meiosis
DNA replication to produce germ cells (gametes) | one single set of 23 chromosomes
41
G0 Phase | cell cycle
cells are resting | cancer cells very rarely enter the G0 phase
42
``` G1 Phase (cell cycle - interphase) ```
growing phase - cells increase in size, produce RNA and protein CHECKPOINT to ensure everything is ready for DNA synthesis recedes S phase
43
``` S phase (cell cycle - interphase) ```
synthesis - DNA replication
44
``` G2 Phase (cell cycle - interphase) ```
cell continues to grow and produce new proteins CHECKPOINT to determine if cell can enter mitosis and divide precedes M phase
45
M Phase | cell cycle - mitosis
cell division | involves prophase, metaphase, anaphase, telophase
46
Interphase
phase of the cell cycle before division where mass and content of the cell is doubled G0, G1, S phase, G2
47
Gametogenesis
diploid cells to haploid cells through meiosis | results in 4 haploid cells capable of producing offspring
48
Spermatogenesis
head houses the nucleus and DNA tail promotes motility begins at puberty and continues through life
49
Oogenesis
meiosis 1 - one ova and one polar body meiosis 2 - 2 separate ova starts prior to birth
50
Fertilization
union of mature haploid sperm with mature haploid ovum = diploid zygote
51
Genotype
an exact gene allele composition that a person has for a single gene trait`
52
Phenotype
the observed expression of a specific gene
53
Allele
alternative form/variation of a specific location of each gene on a chromosome
54
Genomic imprinting
process by which only one copy of a gene in an individual (from their mother or father) is expressed, while the other copy is suppressed examples: Angelman and Prader-Willi syndrome (chromosome 15)
55
Angelman Syndrome
receive defective chromosome 15 from mother | mental retardation, aphasia, gait imbalances
56
Prader-Willi Syndrome
receive defective chromosome 15 from father | mild to moderate MR, short stature, obesity
57
Single Gene Disorders (Mendel Laws)
results from a mutation that caused the protein product of a gene to be altered or missing autosomal dominant disorders autosomal recessive disorders X-linked inheritance
58
Autosomal Dominant Inheritance
male and female offspring are affected equally if one parent is affected = 50% chance children are affected if both parents are affected = 100% change children are affected no carrier status
59
Autosomal Recessive Inheritance
must by homozygous for a trait to express it if both parents are unaffected but heterozygous for trait (carriers) = 25% chance of children being affected if one parent is affected and the other a carrier, children have 50% chance of being affected
60
X-Linked Inheritance
single gene disorders that are passed through the X chromosome If father has defective X gene, males will be unaffected (gets Y) but all daughters will be carriers or affected (50/50) If mother contributes X chromosome to male = affected
61
Carrier
individual that carries the defective gene but does not express it (phenotypically normal) can transfer to their offspring who can become affected
62
Chromosomal Disorders
caused by chromosomal aberrations - deviation in either the structure or number of chromosomes
63
Disjunction
normal separation during cell division
64
Nondisjunction
failure to separate during cell division | can lead to unequal distribution of chromosomes between cells
65
Aneuploidy
abnormal number of chromsomes
66
Trisomy
extra chromosome (3 instead of pair of 2)
67
Monosomy
only one chromosome (loss of a chromosome)
68
Polyploidy
abnormal number of the entire haploid chromosome set triploidy = 3x the number in nucleus tetraploidy = 4x the number
69
Deletion
loss of a portion of a chromosome
70
Duplication
presence of a repeated gene or gene sequence
71
Inversion
reversal of gene order | linear arrangement of genes breaks off and the order gets reversed when it reattaches
72
Translocation
abnormal arrangement of part of a chromosome
73
Recombinant DNA Technology
combination of DNA molecules not found together in nature Examples: pharmaceuticals (insulin, human GH, erythropoietin) DNA fingerprinting Gene therapy

Adv Pathophysiology (22 decks)

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