Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Genomics

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Gene regulators

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Germ cells/Gametes

A

sperm and ovum – only contain half set of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Haploid

A

set of 23 chromosomes

example: sperm, ovum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Diploid

A

full set of 46 chromosomes

example: zygote

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Chromosomes

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Histones

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Locus

A

specific location of a gene on a chromosome

used to name certain genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Pharmacogenetics

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

DNA Nitrogenous Bases

A

adenine and thymine

guanine and cytosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

DNA Helicases

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Chromatin

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Polymorphisms

A

normal variations in DNA replication

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Ribosomal RNA

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Transcription

A

occurs in the cell nucleus

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Translation

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Molecular Chaperones

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Gene expression

A

the degree to which a gene or group of genes are actively being transcribed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Induction

A

gene expression is increased

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Repression

A

regulatory gene that reduces or prevents gene expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Transcription factors

A

regulate gene transcription through a negative feedback loop

occurs when levels are too low (induction) or too high (repression)

31
Q

Cytogenetics

A

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
Q

Karyotype

A

photographic arrangement of chromosomes

33
Q

Chromosome Structure

A

takes the form of an X or wishbone pattern
P arm - short arm
Q arm - long arm

34
Q

Telomere

A

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
Q

Telomerase

A

produced by cancer cells to continue the production of telomeres = unregulated, infinite cell division

36
Q

Metacentric

A

centromere located in the middle

arms are similar lengths

37
Q

Submetacentric

A

centromere is not centered

arms are clearly different lengths

38
Q

Acrocentric

A

centromeres located at/very near polar ends

39
Q

Mitosis

A

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
Q

Meiosis

A

DNA replication to produce germ cells (gametes)

one single set of 23 chromosomes

41
Q

G0 Phase

cell cycle

A

cells are resting

cancer cells very rarely enter the G0 phase

42
Q 
G1 Phase
(cell cycle - interphase)
A

growing phase - cells increase in size, produce RNA and protein
CHECKPOINT to ensure everything is ready for DNA synthesis
recedes S phase

43
Q 
S phase
(cell cycle - interphase)
A

synthesis - DNA replication

44
Q 
G2 Phase
(cell cycle - interphase)
A

cell continues to grow and produce new proteins
CHECKPOINT to determine if cell can enter mitosis and divide
precedes M phase

45
Q

M Phase

cell cycle - mitosis

A

cell division

involves prophase, metaphase, anaphase, telophase

46
Q

Interphase

A

phase of the cell cycle before division where mass and content of the cell is doubled
G0, G1, S phase, G2

47
Q

Gametogenesis

A

diploid cells to haploid cells through meiosis

results in 4 haploid cells capable of producing offspring

48
Q

Spermatogenesis

A

head houses the nucleus and DNA
tail promotes motility
begins at puberty and continues through life

49
Q

Oogenesis

A

meiosis 1 - one ova and one polar body
meiosis 2 - 2 separate ova
starts prior to birth

50
Q

Fertilization

A

union of mature haploid sperm with mature haploid ovum = diploid zygote

51
Q

Genotype

A

an exact gene allele composition that a person has for a single gene trait`

52
Q

Phenotype

A

the observed expression of a specific gene

53
Q

Allele

A

alternative form/variation of a specific location of each gene on a chromosome

54
Q

Genomic imprinting

A

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
Q

Angelman Syndrome

A

receive defective chromosome 15 from mother

mental retardation, aphasia, gait imbalances

56
Q

Prader-Willi Syndrome

A

receive defective chromosome 15 from father

mild to moderate MR, short stature, obesity

57
Q

Single Gene Disorders (Mendel Laws)

A

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
Q

Autosomal Dominant Inheritance

A

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
Q

Autosomal Recessive Inheritance

A

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
Q

X-Linked Inheritance

A

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
Q

Carrier

A

individual that carries the defective gene but does not express it (phenotypically normal)
can transfer to their offspring who can become affected

62
Q

Chromosomal Disorders

A

caused by chromosomal aberrations - deviation in either the structure or number of chromosomes

63
Q

Disjunction

A

normal separation during cell division

64
Q

Nondisjunction

A

failure to separate during cell division

can lead to unequal distribution of chromosomes between cells

65
Q

Aneuploidy

A

abnormal number of chromsomes

66
Q

Trisomy

A

extra chromosome (3 instead of pair of 2)

67
Q

Monosomy

A

only one chromosome (loss of a chromosome)

68
Q

Polyploidy

A

abnormal number of the entire haploid chromosome set
triploidy = 3x the number in nucleus
tetraploidy = 4x the number

69
Q

Deletion

A

loss of a portion of a chromosome

70
Q

Duplication

A

presence of a repeated gene or gene sequence

71
Q

Inversion

A

reversal of gene order

linear arrangement of genes breaks off and the order gets reversed when it reattaches

72
Q

Translocation

A

abnormal arrangement of part of a chromosome

73
Q

Recombinant DNA Technology

A

combination of DNA molecules not found together in nature
Examples: pharmaceuticals (insulin, human GH, erythropoietin)
DNA fingerprinting
Gene therapy

Adv Pathophysiology (22 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions