Genes, DNA, and Behaviour Flashcards

Lecture 2

1
Q

where is DNA located

A

the nucleus of cells

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2
Q

which cells do not have a nucleus with DNA

A
  • red blood cells
  • hair
  • cornified skin
  • cornified nails
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3
Q

why do red blood cells not have nucleus with dna

A

destroyed during maturation

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4
Q

what percentage of dna codes for proteins

A

1%

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5
Q

what does the remaining 99% of DNA do

A

regulate gene activity and transcription

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6
Q

describe the DNA to proteins process

A

DNA -> transcription -> mRNA -> translation -> amino acids -> proteins

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7
Q

what is chromatin made up of

A

DNA and proteins

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8
Q

how it dna made dense and more manageable in the nucleus

A

wraps around proteins

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9
Q

does more chromosomes = more complexity

A

no,
bananas = 11 pairs, fruit flies = 4 pairs

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10
Q

what is a gene

A

basic physical; and functional unit of heredity.
it is a length of DNA

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11
Q

what is an allele

A

versions of the same gene, inherited from each parent

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12
Q

what bonds the base pairs

A

hydrogen bonds

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13
Q

what is a codon

A

triplet of bases which code for an amino acid

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14
Q

is genetic code universal

A

yes - its the same for humans, bacteria, and everything in-between

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15
Q

how many possible codons code for 20 amino acids

A

64 (including start and stop)
61 for just the amino acids

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16
Q

what is a genotype

A

an organisms complete set of DNa

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17
Q

what is a phonetype

A

characteristics of the organism

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18
Q

what is a gamete

A

reproductive sex cell

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19
Q

what is menders law

A
  1. segregation - alleles separate during gamete formation
  2. independent assortment - genes segregate independently during gamete formation (e.g. we are like our siblings and parents, but not identical)
  3. dominance - some alleles are dominant and some are recessive. the effect of the dominant allele will be displayed and the recessive will be masked
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20
Q

how many pairs of chromosomes do humans have

A

23, from each parent

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21
Q

how are gametes produced

A

meiosis

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22
Q

what is meiosis

A

how sperm and eggs are formed.

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23
Q

what may errors in meiosis cause

A

miscarriage and developmental disorders

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24
Q

are daughter cells identical to parent cells

A

no - due to shuffling of genes between chromosomes

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25
what is interphase
chromosomes duplicating
26
what is crossing over
random shuffling of genes, forming daughter cells
27
What does GWAS stand for?
Genome Wide Association Studies
28
How many publications are related to GWAS?
Almost 4000 publications
29
What are the associations found in GWAS?
138,000 variant-trait associations
30
What type of genetic disorder is monosomy?
Missing X chromosome
31
What is trisomy 21 also known as?
Down’s Syndrome
32
What are some health issues associated with Down’s Syndrome?
* Intellectual disability * Heart issues * Respiratory issues * Digestive issues
33
What characterizes Turner Syndrome?
Physical characteristics like webbed neck and heart, kidney issues
34
What is aneuploidy?
Too many or too few chromosomes
35
What causes single gene disorders?
Mutations to a single gene
36
What are multifactorial disorders caused by?
Mutations to multiple genes combined with environmental influence
37
What type of inheritance involves one copy of the gene causing the condition in males?
X-linked recessive inheritance
38
Give examples of conditions inherited through X-linked recessive inheritance.
* Haemophilia * Red-green colour blindness
39
What is required for autosomal recessive inheritance to cause a condition?
Two copies of the gene
40
Provide examples of conditions inherited through autosomal recessive inheritance.
* Cystic fibrosis * Sickle cell disease
41
What is required for autosomal dominant inheritance to cause a condition?
One copy of the gene
42
Give examples of conditions inherited through autosomal dominant inheritance.
* Huntington disease * Marfan syndrome
43
What happens during interphase?
Chromosomes duplicate
44
What is crossing over?
Random shuffling of genes
45
What is the process called through which sperm and eggs are formed?
Meiosis
46
What is the genetic makeup of humans in terms of chromosome pairs?
23 pairs of chromosomes
47
What does the CFTR gene code for?
A protein in the membrane of cells that make mucus
48
What is the primary focus of GWAS?
Correlation between differences in (Single nucleotide polymorphisms) SNPs and presence of traits
49
What are Single Nucleotide Polymorphisms (SNPs)?
simple genetic variations at a single base pair (nucleotide)
50
What is heritability?
Degree of variation in a phenotypic trait due to genetics
51
What is the aim of twin studies?
Establish the proportion of a trait due to genetics, shared environment, and non-shared environment
52
What does a heritability of 30% indicate?
30% of the variation in that trait is caused by genetics
53
What is the significance of the gene MAOA-L in relation to childhood adversity?
It is linked to violent, antisocial behaviour
54
Define multifactorial disorders.
Conditions influenced by many different genes and multiple environmental factors
55
What are Mendel's laws of inheritance?
* Segregation: Alleles separate during gamete formation * Independent assortment: Different genes segregate independently * Dominance: Some alleles are dominant and some are recessive
56
What is a genotype?
An organism’s complete set of DNA
57
What is a phenotype?
The characteristics of the organism
58
What does epigenetics involve?
Modifications to DNA that do not change the DNA sequence but can affect gene activity
59
What percentage of DNA codes for proteins?
1%
60
What is the function of the 99% of DNA that does not code for proteins?
Regulates gene activity and switches genes on and off
61
Where is DNA primarily located in the cell?
In the nucleus
62
What is the structure of DNA?
Double helix composed of a sugar-phosphate backbone and nitrogenous bases
63
What does the term 'allele' refer to?
Versions of the same gene inherited from each parent
64
What is the role of proteins coded by genes?
They perform various functions such as enzymes, hormones, and tissue formation
65
How many chromosomes does a single sperm or egg cell contain?
23
66
Down syndrome is caused by:
a trisomy of chromosome 21
67
The observable characteristics of an individual are referred to as one's:
phenotype
68
In a strand of DNA, adenine can only bond with which base?
thymine
69
In addition to natural selection, Darwin proposed that species could evolve through ________ selection.
sexual selection
70
what is a nucleotide
a single unit of DNA (base+sugar+phosphate)
71
if dna sequence is A-T-G-C-A, and C was changed for a SNP, what would SNP version look like
A-T-G-(T)-A
72
what are the two phases of meiosis called
1. reduction division 2. separation of sister chromatids
73
what happens during reduction division (meiosis)
goes from 46 chromosomes to 23.
74
what is the order of the phases in each phase of meiosis
1. prophase 2. metaphase 3. anaphase 4. telophase + cytokinesis
75
out of 64 possible codons, how many stop and start codons
1 start codon 3 stop codons
76
what is the start codon
AUG
77
what does the start codon also code for
methionine
78
what are the stop codons
UAA, UAG, UGA