B1 - You and Your Genes Flashcards
Differences between individuals of the same species are called a) which can be due to b) or c).
a) Variation
b) Genetic factors (e.g. dimples, eye colour)
c) Environmental factors (e.g. scars, hairstyle.)
a) What is the function of genes?
b) Different genes control different what?
a) Carrying the information needed for you to develop
b) Characteristics
a) Where
and
b) How
are genes found?
a) Inside the nucleus of every cell
b) In long strings called chromosomes
Chromosomes are made of DNA molecules. DNA molecules are made up of a) and are coiled to form a b).
a) two very long strands
b) double helix
DNA molecules form a complete set of instructions for what 2 things?
- How the organism should be constructed
- How each cell should function
Genes are sections of DNA. Genes control the development of different characteristics by giving instructions to the cell.
a) The cell carries out these instructions by producing what?
b) What are the two types of a) and what are their functions? Give one example of a) for each type.
a) Proteins
b) - Structural proteins (for cell growth or repair, e.g. collagen)
- Functional proteins (enzymes to speed up chemical reactions, e.g. amylase)
Different species have different numbers of chromosome pairs. How many pairs do human cells contain?
23 pairs. (46 in total)
Chromosomes normally come in pairs.
a) What type of cell defies this rule, as it only contains singular chromosomes?
b) Why is this?
a) Sex cells.
b) The sperm contains 23 chromosomes, as does the egg, so when fertilised there are 46 chromosomes in 23 pairs (half from the egg of the mother and half from the sperm of the father)
Sperm (23) + Egg (23) = Fertilised egg cell (46/23 pairs)
a) What is an allele?
b) Give an example of an allele.
a) Different versions of the same gene.
b) The gene for dimples has 2 alleles - to have dimple and to not have dimples.
If a gene contains 2 alleles, where does each one come from within a gene?
One allele would be inherited from the father, and the other from the mother.
What is the definition of homozygous?
Inheriting 2 alleles that are the same.
What is the definition of heterozygous?
Inheriting 2 alleles that are different.
True or false?
Brothers and sisters randomly inherit different combinations of alleles, which is why they can be very different.
True.
The combination of alleles you have is called your a) and the actual characteristics you show is called your b). (HT)
a) Genotype
b) Phenotype
What is meant by the term ‘dominant allele’?
Controls the development of a characteristic, even if it’s only present on one chromosome in a pair.
What is meant by the term ‘recessive allele’?
Controls the development of a characteristic only if a dominant allele is not present, i.e. if the recessive allele is present on both chromosomes in a pair.
How is a dominant allele shown as on a genetic diagram?
Capital letter
How is a recessive allele shown as on a genetic diagram?
Lower-case letter
What is the purpose of a genetic diagram?
They are used to show all the possible combinations of alleles and outcomes for a particular gene.
Give 2 examples of a genetic diagram.
- Punnet squares
- Family trees
True or False?
In both male and female sex genes, the chromosomes are identical.
False.
- In females, the pair of sex chromosomes are identical and are both X chromosomes.
- In males, one chromosome will be an X chromosome and the other will be a Y chromosome.
a) Explain what happens during fertilisation of egg and sperm that defines the gender of the offspring being produced.
b) Why is this? (HT)
a) If an “X” sperm fertilises an egg (“XX”), a girl is produced. If a “Y” sperm fertilises an egg (“XX”), a boy is produced.
b) - Sex of an individual is determined by the sex-determining region Y (SRY) gene on the Y chromosome
- If the gene isn’t present/two X chromosomes, the embryo will develop into a female
- If it is present/XY chromosomes, testes develop the hormone androgen, detected by receptors in the embryo which allow male reproductive organs to grow.
- If it’s XY but the androgen is not detected, female sex organs (apart from the uterus) develop, but the female will be infertile.
What are the symptoms of Huntington’s disease?
Involuntary movement, clumsiness, memory loss, mood changes and an inability to concentrate.
When do symptoms of Huntington’s disease usually occur?
During adulthood, which means the sufferers may have already passed it on to their children.
True or False?
Cystic fibrosis is a disease that affects cell membranes, causing a thick, sticky mucus in the lungs, gut and the pancreas.
True.
What are 4 of the symptoms of cystic fibrosis?
- Weight loss
- Difficulty in breathing
- Chest infections
- Difficulty digesting food
Unlike Huntington’s disease, the cystic fibrosis allele is __________?
Recessive.
The cystic fibrosis allele is recessive, which means what?
If a person only possesses one allele for cystic fibrosis, they will have no symptoms of the disorder at all. However, they are called carriers because they could possibly pass on the allele to their children.
What is meant by a carrier of a genetic disease?
Someone who could possibly pass on the disease to a child, but doesn’t have it themselves.
True or False?
It’s not possible to test someone for a faulty allele.
False - It’s possible to test a person for a faulty allele.
Tests can be done to see if an adult possesses a disease-causing allele in their cells. If a positive result is obtained, what might this mean?
The adult may choose not to have any children and perhaps choose to adopt a child instead.
Alternatively, the adult may still decide to have a child and accept the risk of passing on the disorder to their offspring.
Why might children be tested to see if they have any disease-causing genes?
So that possible preventative measures can be taken. Tests might also be carried out before prescribing certain drugs (e.g. for cancer treatment) that might have a bad affect on an individual.
What risk would testing the fluid surrounding the fetus or the placenta for faulty alleles have?
Possibility of having a miscarriage or other things.