Genes and Inheritance Flashcards

1
Q

What are the stages of mitosis

A

Interphase, Prophase, Metaphase, Anaphase and Telophase

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2
Q

What happens in interphase

A

Chromosomes are diffuse (uncondensed and not visible)
RNA and protein synthesis
DNA Synthesis during S Phase
Cell Growth

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3
Q

What happens in prophase

A

replicated chromosomes become visible
comprised of sister chromatids joined by centromeres
the nuclear membrane breaks down
centrioles move to opposite poles, with spindle fibres produced between them

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4
Q

what happens in metaphase

A

chromosomes attach to the spindle fibres by the kinetochores
line up in the equator of the spindle
chromosomes are now at the most condensed state and visible

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5
Q

What happens during anaphase

A

centromeres divide

sister chromatids pulled apart to the poles by connecting spindle fibres

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6
Q

what happens during telophase

A

nuclear membranes reform
the chromosomes decondense
the daughter cells return to interphase

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7
Q

why have chromosomes condensed

A

serve to manoeuvre DNA through cell division

all the cell to avoid getting knotted DNA

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8
Q

What untangles DNA and how

A

topoisomerase

briefly cut and rejoin DNA

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9
Q

What are somatic cells (chromosomal speaking)

A

Diploid

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10
Q

What are germ cells (chromosomal speaking)

A

Diploid or haploid

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11
Q

What is meiosis

A

the reduction of chromosomal numbers from diploid to haploid

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12
Q

What are the stages of meiosis

A

Prophase I
Metaphase I
Anaphase I
Telophase I

Prophase II
Metaphase II
Anaphase II
Telophase II

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13
Q

What is a leptotene

A

when chromosomes first become visible as thin threads within the nucleus

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14
Q

What is a zygotene

A

the homologous pairs of chromosomes which become closely associated along their lengths by a process called synapsis, to form bivalents

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15
Q

what is a pachytene

A

synapsis is complete and the bivalents are held together throughout their length by a structure known as the synaptonemal complex

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16
Q

What is recombination

A

Homologous chromosomes cross over and swap homologous sections of their DNA

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17
Q

what is diplotene

A

the homologous chromosomes appear to repel each other and remain her together only at chiasmata and at the centromere

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18
Q

what is the chromosomal number during prophase II, metaphase II and anaphase II

A

haploid

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19
Q

What happens during the second mimic division in the egg

A

the second mitotic division is not complete until fertilisation, and is very unequal, giving the mature egg and a small polar body

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20
Q

What are Mendel’s two laws

A

Segregation of characterises

Independant assortment

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21
Q

What is segregation of characteristics

A

when a pair of characteristics that is only represented in one gamete

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22
Q

What is genetic dominance

A

when a gene for a characteristic has one dominant allele which stresses the manifestation of the second recessive allele

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23
Q

What is an example of an autosomal recessive disease

A

Cystic Fibrosis

24
Q

What are 3 examples of autosomal dominant diseases

A

Tuberous sclerosis
Neurofibromatosis
Retinoblastoma

25
What is Independent Assortment
Two characteristics that are inherited independently
26
What does it mean to describe genes as linked
They are located near each other on a chromosome
27
What is Sex Linkage
Genes that are carried and inherited via the X and Y chromosomes
28
Why are males more affected by sex-linked diseases
Males are homozygous, and so recessive alleles manifest themselves in the male phenotype
29
What are 3 key features of an X-linked recessive pedigree
Clusters of affected males Affected males connected through unaffected females No male to male transmission
30
What are the two Hardy-Weinberg Equilibrium equations
p + q = 1 p^2 + 2pq + q^2 = 1
31
What are the 5 conditions of Hardy-Weinberg
``` Infinite population Random mating No selection pressures No new alleles by mutation No net migration into/out of population ```
32
What is the human karyotype
``` 44 autosomes (22 pairs) 2 sex chromosomes ```
33
When are chromosomes most condensed and visible
during metaphase
34
What are DNA molecules wrapped around
Histone proteins
35
What is a histone wrapped with DNA called
Nucleosome
36
What is a bundle of nucleosomes called
Chromatin Fibre
37
What do Chromatin Fibres bind to
Scaffold
38
What does loops of chromatin fibre form
Chromatid
39
What are two chromatids joined together called
Sister Chromatids
40
What hold the sister chromatids together
The centromere
41
What are the names of the different grooves in DNA
Major and Minor Groove
42
What are telomeres
Short tenderly repeating sequences that prevent DNA fusing and karyotype re-arrangement Maintain the length of the germ-line cells
43
What natural process causes shortening of telomeres
Ageing
44
What is X inactivation
When a maternal chromosome condenses, silencing the gene
45
What are the 4 stages of the cell cycle
G1 S G2 M
46
What does a gene consist of
All DNA sequences necessary to produce a single polypeptide or RNA product
47
Simply, what is Transcription
DNA -> mRNA
48
Simply, What is translation
mRNA -> Protein
49
What 3 areas of a gene are unique to eukaryotic cells
Promoter region exons introns
50
What is the genetic locus
A specific position or location on a chromosome
51
What is an Allele
An alternate version of a DNA nucleotide sequence that may be t a given locus
52
What is Diploid
Having maternal and paternal homologous chromosomes
53
What is haploid
having only one of the two homologous chromosomes
54
What is homozygous
Having the same alleys at a genetic sequence
55
What is heterozygous
having different alleles at a genetic locus
56
What is dominant
traits that are expressed in heterozygotes
57
What are recessive traits
Traits that are expressed only in homozygotes