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Genetics Flashcards

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1
Q

What is reproduction?

A

The passing on of duplicated DNA from one generation to the next to enable and ensure the continuation of a species.

It can be completes sexually in multicelluar organisms and asexually in unicelluar organisms

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2
Q

What is the role of the testes?

A

To produce sperm

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3
Q

What is the role of the vans deferans?

A

A long tube that connects the epididymis to the urethra for sperm transportation

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4
Q

What is the role of the prostate gland?

A

Secreting an alkaline fluid that neutrlaises acids in the female reproductive system to prevent the death of sperm cells during intercourse

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5
Q

What is the role of the seminal vesicles?

A

Secretes fluid containing proteins, enzymes, sugar and vitamins as an energy source for sperm cells

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6
Q

What is the role of the urethra?

A

Tube that travels through the penis to allow urine and sperm to exit the body

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7
Q

What is the role of the ovary?

A

Producing and storing ovum (eggs) once a month

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8
Q

What is the role of the vagina?

A

A muscular canal that allows sperm to travel from outside of the body to the uterus

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9
Q

What is the role of the uterus

A

A hollow, muscular organ which expands during pregancy where the fetus develops and grows.

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10
Q

What is the role of the fallopian tube?

A

Passageway for ovum from the ovary to the uterus

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11
Q

What is a gamete?

A

Male and female sex cells that fuse together to produce a zygote

Sperm is the male reproductive cell
Ovum (ova plural) female reproductive cell

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12
Q

What is fertilisation?

A

The fusion of male and female gametes to form a zygote

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13
Q

What is a zygote?

A

A unique genetic code cell resulting from fertilisation

A fertilised egg

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14
Q

What is a foetus?

A

An unborn offspring that develops and grows in the uterus of female mammals

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15
Q

What is variation

A

The differences that exist between individuals in the same species

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16
Q

What is nature variation?

A

The characteristics that are inherited from one generation to the next because it is coded in the genetic material of that individual from conception

e.g. the eye colour of someone

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17
Q

What is nurture variation?

A

Variation as a result of the environment of the individual, including everything they experience in life such as climate, lifestyle, culture and diet.

e.g. a person’s diet affects their height

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18
Q

What happens during reproduction?

A

Genetic information from both parents’ 23 chromomes is transfered to the offspring

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19
Q

Relate the concepts of DNA, genes and chromosomes

A

Genes are sections of DNA that code for a particuar trait e.g. hair colour. Then long strands of DNA are wound tightly (condensed) around histomes (protien) to form chromosomes in the cell nucleus.

Genes and chromosones are both made of DNA

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20
Q

Where is DNA found before cell division occurs?

A

The cell nucleus

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21
Q

What is DNA?

A

Deoxyribonucleic acid is a molecule that contains the unique genetic code for each organism

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22
Q

What are genes?

A

Sections of DNA that code for particualr traits

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23
Q

What are chromosomses composed of?

A

In the cell nucleus, long threadlike strands of DNA, called chromatin, condense and coil around proteins called histones to form chromosomes.

A chromosome can exist as a single chromatid or as a pair of sister chromatids which are joined by a centromere.

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24
Q

What is a haploid?

A

One copy of chromosomes in an organism’s gametes

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25
What is a diploid?
Twp copies of chromosomes from each parent in the organism's somatic cells
26
What is a genotype?
The alleles that an indiviudal has for a particular trait ## Footnote e.g. Tall (T), short (t) => TT, Tt or tt
27
What is a phenotype?
The physical makeup of an individual
28
What is a genome?
The genetic make up of an individual
29
What is a karyotype?
The number and apperance of the chromosomes in an individual
30
What is an allele?
The variations of a gene recieved from the parents of an individual
31
Homozygous vs. heterozygous alleles
Homozygous alleles are two of the same alleles Heterozygous alleles are two different alleles
32
What are homologous chromosomes?
Pairs of chromosomes that have genes from each parents that were in the same location
33
When was the Watson-Crick model of DNA produced and what did it discover?
1953 and it describes the structure of DNA
34
What does the Watson-Crick model of DNA describe?
The double helix shape of DNA There are deoxyribose sugar and phosphate backbones The two main shapes of nitrogenous bases are adenine and thymine, and cytosine and guanine They are connected through hydrogen bonds DNA is made up of nucleotides
35
How does DNA replication occur?
DNA untwists Enzyme causes DNA to unzip Free nucleotides in the nucleus bond with their complimentary bases They are joined together by an enzyme Two DNA molecules are formed each with a template and new strand
35
What is DNA replication?
The copying of a DNA strand in the nucleus before cell division occurs
36
What is a nuleotide?
The building blocks of DNA that consist of one deoxyribose sugar, one phosphate and one nitrogenous base
37
What is a double helix?
Descriptuon of the physical structure of DNA that resembles a twisted ladder
38
What is complementary base pairing?
When the nitrogenouse bases of cytosine pair with guanine and adenine always pairs with thymine
39
What is mutation?
Permanent changes in the sequence of nucleotides that make up DNA ## Footnote They can be caused by chemicals, radiation or UV light
41
What is a gene mutation?
A mutation in the sequence of nitrogenous bases which causes a change in the gene and the protein it codes for, potentially altering the look/function of the cell. | The cell receives the wrong message ##Footnote They can be dominant or recessive and advantageous, neutral or harmful.
42
What is an example of a gene mutation?
Sickle cell anemia which is a disorder that affects the shape of red blood cells.
43
What are the types of gene mutations?
Frameshift mutation: when a nucleotide is inserted or deleted during DNA replication changing the sequence Point mutation: when a different base is substituted into the sequence.
44
What is chromosomal mutation?
What a chromosome fails to separate during meiosis resulting in the incorrect number or arrangement of genes in the chromosome
45
What is an example of chromosomal mutation?
Down syndrome which occurs when there three copies instead of two of the 21st chromosome. Symptoms include a short stature, eyelid fold, a round head, a large tongue and speaking difficulty.
46
How does the Watson-Crick model explain changes in genes?
Provides a framework for understanding how gene mutations occur using complementary base pairing
47
How is mitosis used in single cell organisms?
Asexual reproduction
48
How is mitosis used for multicellular organisms?
It ensures all genetic information in somatic cells is replicated and that the daughter cells are identical to each other and the original cell | Growth and repair
49
What is the first phase of mitosis?
Interphase - the DNA replicates inside the nucleus of the cell - cell carry’s our normal cell activities as this is the phase of the cell cycle is spends most time in. - the cell grows and other organelles are replicated
50
What is the second phase of mitosis?
Prophase - chromosomes condense to become more visible - membrane around nucleus disappears - spindle fibres form
51
What is the third phase of mitosis?
Metaphase: - chromosomes line up along the middle of the cell - spindle fibres connect to centromeres
52
What is the fourth stage of mitosis?
Anaphase: - one copy of each chromosome (chromatid) is pulled to the opposite poles of the cell
53
What is the fifth stage of mitosis?
Telophase: - chromatids uncoils into chromatins - a new nucleic membrane forms around each set of chromosomes - spindle fibres disappear
54
What happens after mitosis?
Cytokinesis: - the cytoplasm, organelles and cell membranes divide to form two daughter cells ## Footnote The cell then returns to interphase
55
What is meiosis?
The process in which gametes are produced in a process that is a two stage cell division producing 4 haploid daughter cells that are not identical to each other.
56
Why is meiosis important?
It prevents doubling up of genetic information from one generation to the next when the gametes combine during fertilisation.
57
What are stem cells?
The foundation of every organ and tissue in our bodies. They are able to self renew and are undifferentiated with the potential to become every kind of cell in the body.
58
What are the types of stem cells?
Embryonic Adult Induced pluripotent
59
What are embryonic stem cells?
Stem cells derived from the inner cell mass of early stage embryos. They are pluripotent meaning they can become any type of somatic cell apart from placenta and umbilical cord.
60
What are the stages of mitosis?
Interphase Prophase Metaphase Anaphase Telophase | IPMAT ## Footnote Cytokinesis afterwards Interphase is sometimes not included either
61
What are adult stem cells?
Cells found in various tissues of fully developed organisms. They often have less differentiation potential and can only become the cells where they were originally. ## Footnote Also known as somatic stem cells
62
What are induced pluripotent stem cells?
Cells that have been reprogrammed in the laboratory to behave like embryonic stem cells. ## Footnote They avoid some of the ethical concerns associated with embryonic stem cell research.
63
How can stem cells be used to treat a variety of disease?
They can regenerate damaged tissues They can cure neurodegenerative disorders They can advance drug testing and personalised medicine
64
How has the development of stem cell technology advanced our understanding of cells?
Provide new tools to understand how diseases and conditions develop.
65
What do stem cells have the potential to become?
They can generate new tissues in the body e.g. generates new heart tissue for patients with heart disease and heart attacks
66
How can stem cells cure neurodegenerative disorders?
Stem cells can potentially generate neurons and repair nerve damage. e.g. stem cells can produce neurons that can replace function of the brain for alziemer's disease and restore motor function
67
How can stem cells advance drug testing and personalised medicine?
They can improve drug safety and effectiveness by testing drugs on patient specific cell models. e.g. cell that can create a model of cancer tumours can help doctors test personalised drugs on them before giving them to the patient
68
What are the limtations of using stem cells to treat diseases?
Incomplete understanding of side effects Ethic and legal concerns High cost and complexity High likelihood to be rejected by new host
69
How does using stem cells to treat diseases lead to incomplete understanding of side effects?
Scientists are still learning how stem cells behave in the body, leading to unpredictable side effects. e.g. some studies have shown that transplanted stem cells can form tumors instead of integrating properly into the brain.
70
How does using stem cells to treat diseases lead to ethical and legal concerns?
Embryonic stem cells raises ethical issues, slowing progress in developing therapies. e.g. the embryo where the stem cells originate from could be destroyed.
71
How does using stem cells to treat diseases lead to high costs and complexity?
Treatments are expensive due to the resources required and lifetime monitoring, limiting widespread treatment. e.g. the use of induced pluroptent stem cells is expensive
72
What were Mendel’s conclusions from his work on breeding peas.
Traits are passed down through heritable genes that exist in pairs, with offspring inheriting one factor from each parent

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