A gene is a unit of inheritance. It is a small segment of DNA that controls the production of one polypeptide that determines a characteristic
Alleles are different form of the same gene
Homozygous (RR/rr)
heterozygous (Rr)
Female XX, male XY
Mutation is a sudden, random change in the structure of a gene or in the number of chromosomes in the nucleus.
Gene mutation
albinism : people with albino allele (recessive) cannot produce a pigment for skin,hair and eye colour. They are sensitive to sunlight and easily sunburnt.
sickle cell anemia : gene controlling haemoglobin is affected. The mutated gene is recessive causing red blood cell to be sickle shaped which can interfere with the oxygen carrying property of red blood cells
Chromosome mutations
Down syndrome : humans normally have 46 chromosomes. Down syndrome people have 47 (extra chromosome 21)
Factors increasing rate of mutation
chemicals (eg: tar)
radiation ( eg: ultraviolet light, X-rays)
What is a gene?
A gene is a unit of inheritance that controls the production of one polypeptide determining a characteristic.
Where is the gene for human eye colour located?
On chromosome 15.
What are alleles?
Alleles are different forms of the same gene.
What does the allele 'B' represent in the context of eye colour?
The allele for black eye colour.
What does the term 'phenotype' refer to?
Phenotype refers to the expressed trait or observable characteristic of an organism.
What is the genotype for Taylor Swift's eye colour?
bb
How is a genotype defined?
A genotype is the genetic make-up of an organism represented by a pair of alleles.
What does it mean if an organism is homozygous?
It means the two alleles controlling the trait are identical.
What does it mean if an organism is heterozygous?
It means the two alleles controlling the trait are different.
What is the difference between dominant and recessive alleles?
A dominant allele expresses itself in both homozygous and heterozygous conditions, while a recessive allele expresses itself only in homozygous condition.
What is the dominant allele for eye colour?
Black allele (B)
What is a Punnett Square used for?
A Punnett Square is used to determine the genotype of the offspring.
How many pairs of chromosomes do humans have?
23 pairs
What are the sex chromosomes in humans?
Females have XX chromosomes, while males have XY chromosomes.
Why might the observed ratio of boys to girls in a family differ from the expected ratio?
Because the ratio figures are based on chance/probability and are often inaccurate with small sample sizes.
What are variations in traits between individuals of the same species dependent on?
Interactions between genes and the environment.
What are the two categories of variation?
Continuous variation
Discontinuous variation
What are the differences between discontinuous and continuous variation?
Discontinuous variation:
Few clear-cut phenotypes
Controlled by one or a few genes
Not affected by environmental conditions
Examples: eye colour, blood group
Continuous variation:
Range of phenotypes
Controlled by many genes
Affected by environmental conditions
Examples: height, skin colour
What is mutation?
Mutation is a sudden, random change in the structure of a gene or in the number of chromosomes.
How can mutations produce variation between individuals?
Mutations result in new alleles.
What are examples of gene mutations?
Albinism: Recessive allele causing lack of pigment.