Genetics part 1 Flashcards

(64 cards)

1
Q

Mendel’s First Law of Segregation:

A

Two copies of each particle one from each parent. They remain unaltered and one is passed on at random in each sperm/egg.

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2
Q

Mendel’s Second Law: Independent Assortment

A

Traits are inherited independently

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3
Q

Mendels Third Law Dominance

A

The inherited particles may be dominant or recessive.

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4
Q

What groups are in Archaea?

A

Includes groups like euryarchaeota and Crenarchaeota

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5
Q

How can point mutations in non-coding vs coding regions influence evolutionary comparisons between primate species?

A

Point mutations in non-coding regions often accumulate neutrally and can be used as molecular clocks while mutations in coding regions mat affect protein function and are subject to selection, providing insights into functional divergence.

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6
Q

Why are Pan troglodytes and Homo sapiens considered more closely related than either is to Gorilla gorilla?

A

Their DNA sequences have fewer nucleotide differences showing more recent common ancestor and greater genetic similarity especially in conserved genomic regions.

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7
Q

How can comparative genomics as shown in a DNA alignment table be used to reconstruct phylogenetic trees?

A

By counting number of sequence differences, scientists estimate evolutionary distance and construct cladograms and infer branching order in phylogenies.

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8
Q

How do loss of function mutations in pigmentation genes lead to albinism at the molecular level?

A

This mutations disrupt enzyme activity e.g tyrosinase or melanin transport preventing normal melanin biosynthesis in melanocytes leading to hypopigmentation.

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9
Q

Why is it unlikely that complex behavioural traits like anxiety can be explained by single mutations?

A

Such traits are polygenic and involve complex gene-environement interactions meaning many loci with small effects contribute to overall phenotype often modulated by life experiences

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10
Q

What evolutionary pressures might maintain variation in complex traits like anxiety within a population?

A

Balancing selection may preserve variation if different levels of traits e.g vigilance, reactivity, offer context dependent fitness advantages in different environments.

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11
Q

What molecular event intiates the transition from normal cells to precursor lesion in cancer evolution?

A

Accumulation of mutations due to imperfect DNA replication especially in genes regulating cell growth and repair.

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12
Q

What is a “driver mutation” in cancer, and how does it differ from a “passenger mutation”?

A

A driver mutation provides a growth advantage and promotes clonal expansion, while passenger mutations are neutral changes that do not contribute to cancer progression.

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13
Q

What is meant by “clonal sweep” in the context of cancer evolution?

A

The expansion of a single cell clone carrying a beneficial driver mutation that outcompetes others, leading to genetic homogeneity in that region of the tumor.

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14
Q

How does a primary tumor form from a precursor lesion

A

Throguh clonal expansion and driver mutations which cause cells to gain traits like uncontrolled growth resistance to apoptosis and invasion.

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15
Q

Why do cancer cells within the same tumor often show genetic diversity

A

ongoing mutations and selective pressures lead to intra-tumoral heterogeneity, resulting in subclones with different mutations and phenotypes.

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16
Q

What is the clinical significance of tumour heterogeneity in cancer treatment?

A

It complicates therapy because different clones may respond differently leading to drug resistance and treatment failure.

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17
Q

What are escape mutations

A

let virus escape the immune system by changing the spike protein just enough to reduce the effectiveness of neutralising antibodies.
problem: virus evolves in compelx unpredictable ways.

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18
Q

WHat is heredity in genetics

A

the passing on of traits from parents to offsring through genetic material DNA

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19
Q

Who is the father of genetics, why?

A

Gregor Mendel for disovering basic principles of inheritance using pea plants

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20
Q

How are genotype and phenotype linked

A

genotype determines which proteins are made, which then influence the phenotype; environment can also modify the outcome.

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21
Q

When do Mendels laws not apply perfectly?

A

When there are linked genes, codominance, incomplete dominance, polygenic traits/ epigenetic effects

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22
Q

Why is it important to know when and why genetics follows Mendel’s laws?

A

It helps predict inheritance patterns accurately and understand exceptions due to more complex genetic mechanisms.

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23
Q

Aristotle: spontaneous generation

A

3 kinds of plants and animals;
1) reproduce from seed/ from parents - one organism makes another similar organism
2) grows out of another organism - one organism gives rise to a different to a organism
3) arises spontaneously from non-living material (weeds, flies and maggots)

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24
Q

What is the scientific method in the birth of rationalism in 1500s-1600s

A

Make observations
Think of interesting questions? e.g why does this pattern occur?
Formulate hypotheses
develop testable predictions
gather data to test predictions
Refine, alter, expand or Reject Hypothesis.
develop general theories.

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25
omne vivum ex ovo meaning?
all life comes from eggs
26
What is an embryo?
Preformation vs epigenesis:
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Preformation
the embryo is ia miniature adult (animalcule or homonculus) no distinction between different wstages of life just growth. Strongly fits the then biblical views that all life was created once by God arguments between Spermists and ovists. Nicolaas Hartsoeker thought sperm were part of umbilical cord.
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Epigenesis
Adults forms arise by development from different forms. The embryo is not simply a smaller adult but contains information specifying a developmental programme. Aristotle and Harvey both talked in terms of epigenesis, but it wasnt widley accepted until studies by Caspar Friedrich Wolff on chick embryos. emryo has information that tells the embryo how to become a bigger organsism.
29
What was the state of play in mid 1800s
1) Life comes from life 2) life comes from eggs/embryos 3) the embryo is not just a miniature adult 4) The embryo contains information telling it how to develop into an adult. 5) The information is passed down somehow from both parents
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How does inheritance actually work in mid1800s?
1) Blending inheritance (children are an average of their parents) has problems 2) Can children inherit acquired traits? Lamarckism <- Darwin disproved this idea now: acquired traits can't really be passed on. 3) How does information get nito the germ cells? Darwin said "pangenesis": each organ of body produces gemmules of information which are transported into sperm/eggs (galton expt. on rabbits disproved this)
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Mendels key ideas
Key insight was to establish a clean model system to test hypotheses based on parent strains that bred true, so you know exactly what information each parent is passing on.
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What were mendels discoveries
Inheritance is particulate, not blended (these particles later "genes" by Walter Sutton 1st LAW OF SEGREGATION: Two copies of each particle; one from each parent. They remain unaltered and one is passed on at random in each sperm/ egg. 2nd Law of INDEPENDENT ASSORTMENT traits inherited independently 3rd Laws: DOMINANCE: The inherited particles may be dominant or recessive.
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Alleles
different versions of the same gene
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Homozygous
an individual carrying two identical alleles "same seed"
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Heterozygous
Individual carrying two different alleles
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What did Walter Sutton and Theodore Boveri deduce in 1902 (Chromosomal inheritance)?
That chromosomes are inherited as one set from each parent and then segregated into the gametes in the next generation.
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What did sutton and Boveri find out when looking at chromosomal inheritance.
Chromosomes segregate at the first meiotic division. Germ cells have half as many chromosomes as other somatic cells. Boveri: showed egg and sperm each provide half set of chromosomes to the developing in zygote. Behaves in Mendellian Fashion. counted chromosomes under microscope in a grasshopper
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What did Ronald Fisher explain in 1911?
Continuous traits (height, weight wtc as the statistical aggregate effect of multiple genes - also explaining apparent blended inheritance
39
What do Multiple additive alleles:
May mimic blending inheritance in some families or may appear quasi-mendelian in others.
40
How do the chromosomes get into the germ cells?
In the chromosomes
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Can children inherit acquired traits?
no
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Why does blending inheritance has problems?
Because inheritance is actually particulate blending comes from averaging in many genes
43
What is the Louis Pasteur: Swan neck flask experiment?
A) To show that oxygen causes meat broth to spoil B) To test theories of spontaneous generation
44
What are the origins of genetics and heredity?
Genetics originated from Gregor Mendels work in 19th century mendel discovered traits passed from parents to offspring through discrete units (known as genes) his work laid foundation for science of heredity, supported discoveries in DNA sturtcure and function
45
When and why do genetics follow mendelian laws?
Mendelioan genetics applies best to traits controlled by single genes with clear dominant/ recessive alleles. law holds true when: alleles assort independently (genes are on different chromosomes or far apart on the same chromosomes. no mutations, linkage, epistasis or environmental factors interfere.
46
Summarise the Swan Neck Flask experiment by Louis Pasteur
Aim: to test whether microorganisms arise spontaneously Mthod: broth boiled in swan-neck flasks to kill existing microbes (sterilisation), flasks had curved necks that allowed air in but trapped dust and microbes. Observations: no microbial growth occured in broth unless neck was broken allowing contaminants in. conclusion: microorganisms come from existing microbes in the environment not spontaneously. Strong evidence supporting germ theory and debunking spontaneous generation.
47
What was the Frederick Griffith - Transformation in streptococcus pneumoniae
Aim: To determine how genetic traits are passed between bacteria bacteria used: S-strain (smooth encapsulated, pathogenic - causes pneumonia) R-strain (rough, non-encapsulated, non-pathogenic) Method & Results: Live S-strain → mouse dies Live R-strain → mouse lives Heat-killed S-strain → mouse lives Heat-killed S-strain + live R-strain → mouse dies Live S-strain recovered from dead mouse Conclusion: A "transforming principle" from the dead S-strain converted R-strain into pathogenic S-strain. First evidence of horizontal gene transfer and that DNA may carry genetic information (fully confirmed later).
48
What was the Hershey and Chase - Phage infection with Sulphur and Phosphorus labels
Aim: To determine whether DNA or protein is the genetic material in viruses. Method: Used bacteriophages (viruses that infect bacteria): Labeled DNA with radioactive phosphorus (³²P) (DNA contains P). Labeled protein coat with radioactive sulfur (³⁵S) (proteins contain S). Allowed phages to infect E. coli bacteria. After infection, used a blender to separate viral coats from bacterial cells. Measured radioactivity in the bacterial pellet and supernatant. Results: ³²P (DNA) entered the bacteria. ³⁵S (protein) stayed outside. Conclusion: DNA, not protein, is the hereditary material passed from virus to host.
49
Explain stages of cell cylcle:
G1: Cellular contents, excluding the chromosomes are duplicated S-Phase: Each of the 46 chromosomes is duplicated by the cell. G2 phase: The cell "double checks" the duplicated chromosomes for error making any needed repairs.
50
Interphase:
90% of cell life span Chromatin (DNA and proteins) is loosely packed Chromosomes not visible Divided into: G1 (first gap): cell grows and gets ready for DNA synthesis S (Synthesis): DNA replication G2 (second gap): cell prepares for mitosis
51
Prophase ?
Chromatin condenses into visible chromosomes: each has two chromatids joined at the centromere Centrosomes migrate to poles Spindle fibres radiate from centrosome Mitotic spindle forms in the cytoplasm Nuclear envelope dissolves, spindles attach to centromeres via kinetochore The chromosomes begin to migrate to the cell centre
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Metaphase?
Chromosomes are fully condensed and line up on the equator of the cell at the ‘metaphase plate’
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Anaphase
Centromeres divide and sister chromatids are pulled to opposite poles by shortening of kinetochore fibres
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Telophase
Sister Chromatids reach opposite poles and nuclear membrane reforms. The chromosomes decondense and spindles disassemble.
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Cytokinesis?
Division of the cell into two daughter cells.
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What is Sutton?
Chromosomes segregate at the first meiotic division. Germ cells have half as many chromosomes as other somatic cells
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how are boveri cells different?
Egg and sperm each provide half set of chromosomes to the developing zygote.
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Who passes on mitochondrial genes to offspring?
Mothers genes this does not follow mendels law.
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Meisosis
Occurs only in germ (reproductive) cells DNA synthesis followed by two sequential divisions, reducing the chromosome number by half "shuffles" the genome leads to four genetically unique haploid cells (gametes)
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What are the key features of meiosis I that distinguish it from mitosis.?
Prophase I The chromosomes line up side by side in homologous pairs. Crossovers form between chromosomes and recombination takes place The nuclear membrane disintegrates immediately before metaphase Metaphase I The chromosomes align at the equatorial plane Anaphase I The homologous chromosomes separate and begin to migrate to the opposite poles of the cell, but the sister chromatids remain together. Telophase I The chromosomes continue to migrate towards the poles
61
What traits don't follow a simple mendelian law and why?
Mendel studied traits controlled by single genes with clear dominant or recessive alleles e.g tall vs short pea plants However: polygenic traits e.g height and skin colour are controlled by many genes not just one. Each gene has a small additive effect on the final trait. Leads to coninuous range of phenotypes rather than discrete categories. E.g Height might be influenced by 100+ genes Additive effects: each dominant alleles adds to intensity of the trait. In skin colour, more dominant alleles for melanin production -> darker skin. Environmental influence: Traits also strongly affected by environment, diet and health, sun exposure.
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Give an example of a disease that follows a precise mendelian pattern.
ALKAPTONURIA: identified as mendelian recessive disorder by Archibald Garrod - birth of medical genetics. black urine and black spots in eyes, recessive disorders 1 in 4 children with two parent carriers will have the disease.
63
Explain mendels third law
understood in terms of dosage dependence of gene products if the phenotype is not dosage sensitive then there is no difference between having 1 working allele or 2 working alleles however there is a very big difference between having no functional alleles and having one or more functional alleles. Losing both copies of a gene means you lose that function - so you need 2 copies of a loss of functional alleles to exhibit the phenotype. DOMINANT alleles tend to be functional alleles or even gain of function RECESSIVE alleles tend to be loss of function alleles a "broken copy" of a gene.
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