"Unit 1" (chapter 7 and 8, except 7b)) Flashcards

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1
Q

Whats DNA

A

coded genetic instructions

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2
Q

Gene

A

a section of DNA that carries the code to make a protein.

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3
Q

Deoxyribonucleic acid

A
  • a double-stranded nucleic acid chain made up of nucleotides.
  • DNA carries the instructions for proteins which are required for cell and organism survival.
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4
Q

Nucleotide

A
  • the basic building block of nucleic acids (RNA and DNA)
  • Made up of a nitrogen-containing base, a sugar molecule, and a phosphate group.
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5
Q

Genome

A

the entire set of DNA within the haploid set of an organism’s chromosome

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6
Q

Allele

A

Different forms of a gene

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7
Q

Locus

A

The fixed postion on a chromosome where a particulare gene is located

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8
Q

histone protein

A

Histones are proteins that help DNA condense into chromosomes inside the nucleus, allowing it to fit neatly

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9
Q

Chromosome

A

structure made of protein and nucleic acid that carries genetic info

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10
Q

Somatic cell

A
  • Any cell thats none reproductive (any cell other than sperm and egg)
  • are diploid cells (2n) (46 in humans)
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11
Q

Chromatid

A
  • One half of a copied chromosome
    *Before cell division, chromosomes are duplicated and two copies join together at centromeres (know as sister chromatids)
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12
Q

Homologue

A

chromosome thats similar in physical attributes and genetic info to another chromosome
- with it pairs during meiosis is called a homologous chromosome.

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13
Q

Hows DNA formed

A

formed by the continuous pairing of base pairs into a longer, double-stranded nucleic acid chain.

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14
Q

whats DNA built of

A

many basic building blocks, know as nuleotides

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15
Q

what does DNA consist

A

phosphate, sugar (deoxyribose) and A nitrogen-containing base

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16
Q

what are the 4 nucleotides found in DNA

A
  1. Adenine (A)
  2. Thymine (T)
  3. Guanine (G)
  4. Cytosine (C)
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17
Q

what are the complimentary base pairs

A

A and T
G and C

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18
Q

DNA structure

A

two nucleotide chains arranged to form a double helix.

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19
Q

Genome

A

complete set of DNA in an organism

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20
Q

telomeres

A
  • structures made from DNA sequences
  • proteins found at the ends of chromosomes
  • protect ends of chromosomes , from fusing together in nucleus
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21
Q

DNA molecule

A
  • Chromosomes composed of a long DNA molecule that’s been coiled tightly around histone proteins
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22
Q

Centremere

A
  • in the middle and holds two chromodids
  • imporant in the step of meiosis
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23
Q

sister chromtids

A

the two identical halves of a replicated chromosome

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24
Q

Short arm

A
  • part of chromosome shorter in length
  • p arm
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25
Q

long arm

A
  • part of chromosome longer in length
  • q arm
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26
Q

Sister chromatids

A

Two identical halves of a replicated chromosome

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27
Q

Diploid (2n)

A
  • full set of chromosomes contained within an organism
  • Two copies of each chromosome
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28
Q

Haploid (n)

A
  • having one copy of each chromosome
  • A set of unpaired chromosomes.
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29
Q

Homologous chromosomes

A
  • They same in size and length
  • They have same centromere position
  • They share the same genes at the same gene loci but diff alleles
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30
Q

Karyotypes

A
  • A karyotype is a visual representation of an individual’s entire genome organised into homologous pairs.
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31
Q

Autosome

A

any chromosome in humans that is not a sex chromosome (pairs 1 - 22).

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32
Q

Sex chromosome

A
  • a chromosome responsible for determining the biological sex of an organism.
  • (xx and xy)
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33
Q

Aneuploidy

A
  • refers to a chromosomal abnormality (organism has an incorrect number of total chromosomes caused by the addition or loss of an individual chromosome)
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34
Q

Monosomy

A

an organism has one missing chromosome (2n - 1)

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35
Q

Trisomy

A

an organism has one extra chromosome (2n + 1)

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36
Q

Tetrasomy

A

an organism has two extra chromosomes (2n + 2)

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37
Q

Polyploid

A
  • refers to a chromosomal abnormality (an organism has more than a set of two of each chromosome
  • original diploid: (2n = 46), polyploid individual: 3n = 72 or more.
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38
Q

zygote

A

when sperm and egg combine

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39
Q

Homozygous

A

having identical alleles for the same gene on homologous chromosomes.

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40
Q

Heterozygous

A

different alleles for the same gene on hetrozygous chromosomes.

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41
Q

Complete dominance

A
  • a dominant allele is fully expressed in a phenotype and masks the expression of a recessive allele.
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42
Q

Carrier

A
  • An organism has inherited a copy of a recessive allele for a genetic trait but doesn’t show trait as its been masked by the dominant allele.
  • able to pass it on though with out expressing it
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43
Q

Sex-linked genes

A

genes that are located on a sex chromosome

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44
Q

Dominant allele

A
  • The dominant allele of a gene always shows its effect, even when paired with a recessive allele on the other chromosome (heterozygous)
  • represented with capital letters
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45
Q

Recessive allele

A
  • The recessive allele of a gene is masked by a dominant allele on its homologous chromosome. It can only be expressed if the person has both recessive alleles
  • represented with lowercase letters
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46
Q

Genotype

A
  • the genetic makeup of an organism at one particular gene locus
  • represented using letter symbols
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47
Q

Phenotype

A
  • Traits are observable features on an organism resulting from both genes and the environment
48
Q

Codominance

A
  • when both alleles from the genotype are fully expressed in the phenotype of a heterozygote.
  • both alleles “dominant” as neither can mask one another
49
Q

Gametes

A
  • Is a reproductive cell in plants or animals
    *In humans its sperm (male) and egg (female)
  • gametes (the parents) are in crosses
50
Q

Incomplete dominance

A
  • when neither allele from the genotype is fully expressed in the phenotype of a heterozygote.
  • resulting in a blending of both alleles
51
Q

Blood type A’s genotypes and phenotype

A
  • Genotypes: IA,IA or IA,i
  • Phenotype: A
52
Q

Blood type B’s genotypes and phenotype

A
  • Genotype: IB,IB or IB,i
  • Phenotype: B
53
Q

Blood type AB’s genotype and phenotype

A
  • Genotype: IA,IB
  • Phenotype: AB
54
Q

Blood type O’s genotype and phenotype

A
  • Genotype: i,i
  • Phenotype: O
55
Q

What blood types are dominant

A

Blood type A and B

56
Q

What blood type is co-dominant

A

Blood type AB

56
Q

What blood type is recessive

A

Blood type O

57
Q

X-linked traits

A

traits controlled by a gene that is located on the X chromosome.

58
Q

Y-linked traits

A

traits controlled by a gene that is located on the Y chromosome.

59
Q

Why are X linked recessive traits more common in males than females

A
  • because males only have a single copy of the X chromosome (from mother)
  • whereas in females, the recessive traiyt be masked by the second healthy copy of the X chromosome (dominant allele)
60
Q

How many X linked recessive traits does a male and female need for it to be expressed

A
  • males only need to inherit ONE recessive allele in order to get a sex-linked trait (if the ‘y’ has nothing)
  • females need to inherit TWO recessive alleles in order to acquire a sex-linked trait.
61
Q

Sex linked genotypes and phenotypes for male

A
  • geno: Xb,y = pheno: Affected male
  • geno: XB, y = pheno: Unaffected male
62
Q

Sex linked genotypes and phenotypes for female

A
  • geno: Xb,Xb = pheno: Affected female
  • geno: XB, Xb = pheno: Unaffected female
  • geno: XB, XB = pheno: Unaffected female
63
Q

Proportionate heritability

A
  • fraction of a trait variation explained by genetics.
    (organism’s phenotype is explained partly by genes and partly by environmental factors)
64
Q

Epigenetics

A

changes to an organism’s phenotype resulting from modifications to gene expression.

65
Q

How are Phenotypes influenced

A
  • not only by genes but also environmental factors they live in
66
Q

Examples of environmental factors

A
  • temperature, light, nutrition or predation.
67
Q

a sum of the phenotype

A

genotype + environment = phenotype)

68
Q

Activation and deactivation of a gene

A

environmental factors may cause changes to a gene that activate or deactivate the expression of that gene.

69
Q

epigenetic modifications

A
  • Changes in gene activity (Molecules that turn genes on or off, affecting protein production) that don’t involve alterations to the DNA sequence itself
70
Q

epigenetic factor ‘x’ presented… >

A

gene z turned on > protein produced> phenotype A

71
Q

epigenetic factor ‘x’ absent…

A

gene z turned off > no protein produced> phenotype B

72
Q

Process of transcription and translation.

A

DNA >transcription> copy of gene(mRNA) >translation> protein

73
Q

How does epigenetics work

A
  • Epigenetic changes alter the process of transcription
  • cause by epigenetic modifacations?
74
Q

2 examples of Epigenetic modifications

A
  1. DNA methylation
  2. Histone modification
75
Q

DNA methylation

A
  • when methyl groups attach to certain nucleotides within the DNA sequence of a particular gene, and alter levels of gene expression
  • typically causing that gene to be silenced (turned off).
76
Q

Histone modification

A

modify how tightly a DNA molecule is wrapped around a histone protein;
- When DNA is wrapped tighter around the histone, genes are less likely to be expressed
- when DNA is less tightly wrapped, genes are more likely to be expressed.

77
Q

Importance of epigenetics

A

plays a number of roles in the cells in our bodies;
1. Helping to control cell differentiation
2. Providing a mechanism for a developing organism to respond to its environment

78
Q

meaning of ‘helping to control cell differentiation’

A

epigenetic mechanisms control which genes are turned on or off during cell development, ensuring cells specialize and function properly without changing their DNA sequence.

79
Q

meaning of ‘Providing a mechanism for a developing organism to respond to its environment’

A

epigenetic changes help organisms quickly adapt to environmental changes

80
Q

Epigenetic changes can be passed onto…

A
  • …daughter cells during mitosis
  • This means that they could affect an individual organism throughout the entire life
81
Q

epigenetic features are described as being…

A

somatically heritable

82
Q

somatically heritable

A

can be passed from somatic cell to somatic cell

83
Q

when are epigenetic changes in an organism erased

A

when gametes (sperm & egg cells) are formed

84
Q

monohybrid cross

A

A genetic cross to study how traits for one gene are inherited.

85
Q

punnet square

A

a square diagram used to predict the genotypes of offspring.

86
Q

test cross

A

When a dominant phenotype (BB or Bb) individual, with an unknown genotype is crossed with a recessive phenotype (bb) individual, the OFFSPRINGS reveal the genotype of the dominant individual (BB or Bb).

87
Q

P generation

A

parental generatoin

88
Q

F1 generation

A

1st generation offspring result from breeding parent individuals (P generation)

89
Q

F2 generation

A

2nd generation offspring result from breeding individuals of the F1 generation.

90
Q

Dihybrid cross

A

A genetic cross used to study the inheritance of alleles and traits for two genes.

91
Q

Unlinked genes

A
  • genes located on different chromosomes
  • or far apart of the same chromosome
  • Unlinked genes have less chance of being inherited together.
  • subject to independent assortment
92
Q

Linked genes

A
  • genes that are found close together on the same chromosome
  • are likely to be inherited together
  • genes occasionally separated through crossing over and not subject to independent assortment
93
Q

Determining gametes

A
  • use FOIL method
  • Eg: Cc x Dd = CD,Cd,cD,cd
94
Q

Parental Chromosomes

A

carry the same alleles as the parents, without any crossing over

95
Q

Recombinant chromosomes

A

carry new allele arrangements, unlike the parents.

96
Q

recombination

A

Closer alleles on a chromosome are less likely to experience crossing over, while those further apart are more prone to recombination.

97
Q

Map units

A

measures distance between 2 genes on the same chromatid

98
Q

how is crossing over calculated

A

calculated by using map units

99
Q

Pedigree chart

A

diagram showing the expression of a trait over multiple generations

100
Q

consanguineous breeding

A
  • breeding of two individuals that are closely related (known as inbreeding)
101
Q

Horizontal lines represents

A

mating between two individuals

102
Q

Vertical lines represents

A

link between two generations

103
Q

what do circles and squares represent

A

circles = female
Squares = males

104
Q

Coloured shapes represent

A

affected individuals

105
Q

Uncoloured shapes represent

A

unaffected individuals

106
Q

how’s the generation represented on the pedigree chart

A
  • Roman numerals
  • ascending from oldest to youngest.
107
Q

hows the location of an individual represented on the pedigree chart

A
  • using numbers
  • ascending from left to right (starting from 1 in each generation)
108
Q

modes of inheritance

A
  1. Autosomal dominant inheritance
  2. Autosomal recessive inheritance
  3. X-linked dominant inheritance
  4. X-linked recessive inheritance
  5. Y-linked inheritance
109
Q

Autosomal dominant inheritance

A
  • both parents are affected, the offspring may be unaffected.
  • neither parent is affected, the offspring must be unaffected.
  • offspring is affected, there must be an affected parent.
  • The trait cannot skip a generation.
110
Q

Autosomal recessive inheritance

A
  • both parents are affected, all offspring must be affected.
  • neither parent is affected, the offspring may be affected.
  • offspring is affected, there may be an affected parent.
  • The trait can skip a generation.
111
Q

X-linked dominant inheritance

A
  • male is affected, his mother and daughters must be affected.
  • female is unaffected, her father and sons must be unaffected.
  • The trait cannot skip a generation
112
Q

X-linked recessive inheritance

A
  • female is affected, her father and sons must be affected.
  • male is affected, his mother may be affected.
  • The trait can skip a generation.
113
Q

Y-linked inheritance

A
  • Only males can show the trait.
  • All males in a lineage will show the same phenotype.
  • The trait cannot skip a generation.
114
Q

Flowchart for analysing pedigree charts

A

remember it