Genetics Flashcards

(114 cards)

1
Q

genotype

A

set of alles in an individual organism

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2
Q

phenotype

explain

A

organism’s observable characteristics = result of interaction between genes & environment

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3
Q

epigenetics

A

behaviours and the environment cause changes in the effect of genes = reversible (unlike mutations), don’t change DNA sequence

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4
Q

autosomal genes

A

chromosomes that do not determine sex.

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5
Q

locus

A

Location of a gene on a chromosome

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6
Q

generations notation

A

P = parental, F = first gen F2 = second gen

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7
Q

law of segregation

A

onlu one of two alleles is distributed to gamete = genotype consists of one allele from each parent

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8
Q

monohybrid cross

A

A cross between two individuals w/ variations at a single gene locus

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9
Q

complete dominance

A

a relationship in which one allele is completely dominant over another, only one copy of dominant allele is needed to have dominant phenotype eg. brown dominant = brown cow

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10
Q

incomplete dominance

A

neither alleles are fully dominant = heterozygote individuals display a blending of two traits to produce an intermediate phenotype eg. brown, white alleles = light brown cow

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11
Q

Co dominance

A

both alles are expressed equally = phenotype equal eg. brown, white alleles = spotty cow

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12
Q

sex - linked traits

A

gene located on sex chromosome (usually X as it is larger)

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13
Q

comparative size of X and Y chromosomes

A

Y is smaller, contains less genes

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14
Q

x linked traits

A

Females are more likely to be carriers of X-linked traits but are less likely to express them.

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15
Q

x linked recessive

A

appear more often in. males

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16
Q

unlinked genes

A

found on different chromosomes or far apart on the same chromosome, inherited independently

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17
Q

indpendent assortment

A

genes independently separate from one another when producing gametes

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18
Q

dihybrid cross method

A

use foil, use punnett squares

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19
Q

linked genes

A

located close together on the same chromosome, inherited together, sometimes separated through crossing over

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20
Q

linked vs unlinked genes (3 options)

A

diff chromosomes = independent, genes far apart = no independent assortment but high crossing over, genes close together = no independent low crossing over

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21
Q

mutation

A

change in the nucleotide sequence within a segment of DNA

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22
Q

substitution mutation

A

single base is replaced,

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23
Q

insertion mutation

A

one or more nucleotides are added to a gene

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24
Q

deletion mutation

A

one or more pairs of nucleotides are removed from a gene

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25
frameshift
affects every codon downstream from mutation, increases likelihood of change of amino acid = non funtional/altered protein
26
missense
produces a different amino acid
27
nonsense
changes the codon to a STOP codon, shortens protein
28
silent
has little effect on the protein (same amino acid is produced)
29
benefits of missense proteins
creates new proteins, alleles, contributes to adaptation and evolution
30
gene expression and environment
signals from environment can shape differentiation of cells
31
loosely wound DNA
Accessible to RNA Polymerase, transcriptionally active
32
methylation
regions w/ low/no transcriptional activity = densely packed
33
acetylation
regions w/ high transcriptional activity = loosely packed
34
epigenome
all chemical modifications of DNA that contribute to regulate gene expression independently of DNA sequence
35
pyramides
Cytosine and Thymine
36
purines
Adenine and Guanine
37
DNA structure
double helix, antisense, right handed
38
right handed (DNA structure)
strands twist to the right
39
anti - sense (DNA structure)
two strands that run alongside each other in opposite directions
40
complementary base pairings
A-T, C-G
41
G-C
42
Polynucleotide structure
alternating deoxyribose sugar and phosphate backbone w/ phosphodiester bond, nitrogenous bases project sideways
43
phosphodiester bond
covalent sugar bond
44
genome
organism's complete set of DNA
45
haploid + eg.
single set of unpaired chromosomes eg. egg/sperm
46
diploid + eg.
two complete sets of chromosomes eg. sexually reproducing organisms
47
chromosome
a threadlike structure of nucleic acids and protein that carries a single DNA molecule & genes
48
gene
specific sequence of DNA that codes for a particular protein (characteristics)
49
allele
An alternative form of a gene (variations of a gene)
50
nucleosomes
DNA coiled around histones
51
histones
protein molecules around which DNA is tightly coiled in chromatin
52
DNA organisation in chromosome (order)
chromosomes, nucleosomes, histones, coiled DNA
53
chromosome structure
54
telomere
DNA at the tips of chromosomes
55
centomere
the area in the middle of the chromosome where the individual chromatids join
56
Chromosome structure
telomere, short arm, centomere, long arm
57
metacentric chromosome
centromere is in the middle
58
sub-metacentric chromosome
one arm is shorter than the other
59
acrocentric chromosome
centromere near one end = a long arm at one end and a knob, at the other
60
telocentric chromosome
centromere at end
61
homologous chromosomes
pair of chromosomes w/ same genes in same location (differing alleles) one from mother, one from father
62
sister chromatids
Replicated forms of a chromosome joined together by the centromere, identical copies of the same chromosome
63
genome size vs complexity
no correlation
64
karyotype
A display of the chromosome pairs of a cell arranged by size and shape.
65
benefits of sequencing the human genome
1. allows for function and malfunction of genes to be determined = early diagnosis 2. comparing sequence between organisms determines relatedness
66
DNA disease eg.
cystic fibrosis = mutation in DNA sequence which leads to defective protein = CFTR channel lined w/ mucus
67
how many pairs of chromosomes in human?
23 pairs, 46 chromosomes
68
transcription - location & goals
occurs in nucleus, reads DNA to produce mRNA
69
gene expression
the process of making a functional product (protein) from a gene
70
transcription goal
produce a single stranded mRNA from DNA
71
transcription enzyme
RNA polymerase (builds RNA in the 5' to 3' direction)
72
transcription process 1.
initiation: RNA polymerase binds to DNA at promoter, strands split, RNA polymerase reads DNA off template strand
73
promoter
specific region of a gene where RNA polymerase can bind and begin transcription
74
transcription process 2
elongation: RNA polymerase reads template strand, adds bases in the 5' to 3' direction (thymine replaced w/ uracil)
75
transcription process 3
termination: termination sequence transcribed, new mRNA released
76
translation goal
produce a peptide chain (protein) from a series of amino acids
77
translation enzyme
ribosomes (convert mRNA transcript into a polypeptide chain)
78
tRNA
RNA that connects amino acids to codons, have an anticodon that is complementary to mRNA codon
79
codons
The three-base sequence of nucleotides in mRNA which codes for a particular amino acid protein
80
Translation process 1.
initiation: ribosomes bind to mRNA transcript at the start codon
81
translation process 2.
elongation: tRNA anticodon binds to mRNA codon, new amino acids joins chain, mRNA shifted
82
translation process 3.
termination: stop codon read by ribosome, signals to release polypeptide chain
83
stop codons
UAA, UAG, UGA
84
how many amino acids are there?
20
85
why does DNA replicate?
ensure each somatic cell has full complement of DNA
86
somatic cell
any cell of a living organism other than the reproductive cells.
87
semiconservative
method of replication where Each replicated DNA molecule consists of one "old" and one new strand = replicate quickly without many errors
88
DNA polymerase
Enzyme that adds nucleotides to the growing DNA strand, 5' to 3' direction, reads template and corrects errors
89
helicase
enzyme that unwinds DNA, breaks weak hydrogen bonds between base pairs
90
DNA replication process
DNA unzips, complementary nucleotides added, DNA twisted
91
lagging strand
A discontinuously synthesized DNA strand made of Okazaki fragments, due to 5' to 3' direction away from the replication fork
92
diploid
2 sets of chromosomes (46)
93
Mitosis goals
produces 2 genetically identical daughter cells (same no. of chromosomes as starting cell), for organism growth & repair
94
meiosis goals
produces 4 cells w/ half the genetic material, used to make gametes
95
cell cycle
G1: cell grows, copies organelles, S: DNA replicated, G2: cell grows
96
interphase (mitosis)
DNA in uncondensed chromatin, organelles duplicated
97
prophase (mitosis)
chromosomes condense, centrosomes move to opposite poles, spindle fibres form
98
metaphase (mitosis)
spindle fibres connect at centomere, chromosomes align along equatorial plane
99
anaphase (mitosis)
contraction of spindle fibres, sister chromatids separate
100
telophase (mitosis)
spindle fibres dissolve, chromosomes decondense, nucleus reforms
101
cytokinesis (mitosis)
division of cytoplasm, overlaps w/ anaphase and telophase
102
order of mitosis
interphase, prophase, metaphase, anaphase, telophase, cytokinesis
103
prophase I
crossing over
104
Anaphase I
homologous pairs separate, sister chromatids stay together
105
meiosis II
cells don't copy DNA (no interphase), poles perpendicular to meiosis I
106
points where homologues cross therefore...
random = different in each cell
107
meiosis happens multiple times therefore...
cross at many points
108
what features allow for genetic variation
repetition of meiosis, random crossing over, random orientation
109
test cross purpose
to determine the genotype of the parent based on the offspring (homozygous & heterozygous = same dominant phenotype)
110
why lagging strand?
polymerase adds bases in 5' to 3' direction, dna is unravelling in opposite direction to replication
111
glucose classification | ADP, polymer, amino acid, monosaccharide?
monosaccaride
112
light dependent - where do the electrons come from??
chloropyll
113
where does mitosis fit in the cell cycle?
between G1 and G2
114
phenotype vs genotype vs environment influences
phenotype = observable, determined by genotype & epigenetics, genotype = dna that codes for phenotype, epigenetics = changes expression w/out changing sequence