B1 - 'You and Your Genes'

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What is a eukaryotic cell?
A cell that has a nucleus.
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What sub-cellular structures does a eukaryotic cell have? (animal)
Cytoplasm, membrane, mitochondrion, a partially permeable cell, a nucelus, ribosomes.
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What sub-cellular structures does a eukaryotic cell have? (plant)
Cell membrane, chloroplasts, cytoplasm, mitochondrion, a nucleus, ribosomes, a rigid cell wall, large vacuole.
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What are prokaryotic cells? How do they store their genetic information?
Cells that have no nucleus. They store genetic information as one long circular chromosome (float freely in cytoplasm) and plasmids (small loops of extra DNA).
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What is a genome?
The entire genetic material of an organism.
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What is DNA?
A polymer made from two strands of nucleotides which coil together to form a double helix (a double-stranded spiral).
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What does a nucleotide consist of?
A common sugar and phosphate group with one of four different bases attached to the sugar.
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What are the four different bases found in a DNA molecule?
Adenine (A), thymine (T), cytosine (C) and guanine (G).
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What are the complimentary base pairings?
A always pairs up with T, and C always pairs up with G.
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What is a chromosome?
One very long molecule of DNA that's coiled up.
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What is a gene?
A short length of DNA on a chromosome.
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What do genes do?
Each gene codes for a particular sequence of amino acids, which are put together to make a specific protein.
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What is polymerisation?
This process of making a big molecule (e.g. a protein) from lots of smaller molecules (e.g. amino acids) is called polymerisation.
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What do proteins control?
The development of different characteristics, e.g. dimples, and how an organism functions.
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What are alleles?
Different versions of the same gene.
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What is a genotype?
The combination of alleles an organism has for each gene; the genetic makeup.
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What is a phenotype?
The physical characteristics the organism displays.
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What is most variation in an organism's phenotype determined by?
A mixture of genetic and environmental factors. E.g. height.
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What do amino acids do?
The amino acids are joined together to make various proteins, depending on the order of bases in the gene. The properties of each protein are determined by the particular amino acids it contains and the order they're present in.
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What is mRNA?
A polymer of nucleotides, but it's shorter and only a single strand. It uses uracil (U) instead of thymine (T) as a base.
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What is a DNA mutation?
A random change in the DNA which alters the sequence of bases within the molecule.
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What are genetic variants?
Genetic variants are different versions of genes that are formed by mutations. Genetic variants can be inherited.
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What are the ways a mutation can occur and change DNA?
The order of bases in DNA can be changed if one or more nucleotides is deleted, inserted or substituted for a different nucleotide.
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How do genetic variants in DNA coding influence phenotype?
If the sequence of bases in a gene is changed by mutation, a protein made from it may function differently or not at all, though in some cases, the mutation won't have any effect.
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How do genetic variants in non-coding DNA influence phenotype by altering how genes are expressed?
Some sections of DNA do not code for a protein, but they control whether particular genes are expressed, and therefore whether particular proteins are made. Thus, mutations in these sections can also affect phenotype by altering gene expression.
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What is insertion?
A new base is inserted into the DNA base sequence where it shouldn't be.
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What is a deletion?
A random base is deleted from the DNA base sequence.
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What is a substitution?
A random base in the DNA base sequence is changed to a different base.
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What are gametes?
Reproductive cells.
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What is homozygous?
Having two identical alleles for a particular trait.
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What is heterozygous?
Having two different alleles for a particular trait.
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What is single gene inheritance?
When a characteristic is controlled by a single gene.
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What is a dominant allele?
An allele that is always expressed when present.
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What is a recessive allele?
An allele that is only expressed when two copies are present. It can be masked by another allele.
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Describe sex determination in humans.
A human individual's sex is determined by the inheritance of genes located on sex chromosomes; specifically, genes on the Y chromosome trigger the development of testes.
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Are most phenotypic features the result of multiple genes or single gene inheritance?
Most characteristics depend on the instructions in multiple genes and other parts of the genome.
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How did Gregor Mendel contribute to our understanding of inherited traits?
Principles of inheritance of (single gene) characteristics were demonstrated in ideas developed by Gregor Mendel, using pea plants. Mendel's work illustrates how scientists develop explanations that account for data they have collected.
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What is genome sequencing?
identifying which parts of the genome controls different characteristics.
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How can scientists try to identify the genetic variants that are involved in a disease?
By comparing the genomes of people with and without a certain disease. People can then be tested for the genetic variants that are linked to a particular disease.
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How can genetic testing help people with family planning?
A couple wanting to have a baby could use genetic testing to identify the risk of their baby having a particular genetic disorder.
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Explain why a parent may choose to genetically test.
One of the parents may know there is a genetic disorder within their family and want to know if they are a carrier for the condition or the woman is over 34.
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Explain how an embryo may be genetically tested.
A couple may choose to have their eggs fertilised in a lab. A cell can be taken from each resulting embryo and its DNA analysed. An embryo without the genetic variants linked to the disorder can be implanted into the womb to develop into a baby.
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Explain how a fetus may be genetically tested.
Once a woman is pregnant, they take some of the fetal DNA by taking a sample of the amniotic fluid in the womb. The fetal DNA can then be tested for the genetic variants liked to the disorder. This is amniocentisis and 1 in 100 will miscarry.
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How does genetic testing help patients?
It can also help doctors to prescribe the correct drugs to a patient ('personalised medicine'), by testing for alleles that affect how drugs will work in their body.
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What is genetic engineering?
Transfering a gene from the genome of one organism to the genome of another. This gives the organism tointroduce desirable characteristics.
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Explain a possible benefit of using gene technology in modern agriculture.
Crops can be genetically modified to be resistant to herbicides meaning farmers can spray their crops to kill weeds, without affecting the crop itself. This can increase crop yield, helping us to produce more food for the growing human population.
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Explain a possible benefit of using gene technology in modern medicine.
The gene for the human insulin protein has been inserted into bacteria. The bacteria are grown in large numbers to produce insulin for the treatment of diabetes.
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Explain some of the possible risks of using gene technology in modern medicine.
It can be hard to predict what effect modifying it's genome will have on the organism - many GM embryos don't survive and some GM animals suffer from health problems later in life.
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Explain some of the possible risks of using gene technology in modern agriculture.
Transplanted genes may get out into the environment, GM crops could adversely affect food chains - or even human health. Some think that more long-term studies need to be carried out so the risks are more fully understood.
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Card 4

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What are prokaryotic cells? How do they store their genetic information?

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Card 5

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