Key words
- Alleles are different forms of the same gene. You inherit one allele of each gene from each parent.
- A dominant allele is always expressed, even if only one copy is present. A recessive allele is only expressed if two copies are present.
- Homozygous means both alleles are the same (AA or aa); heterozygous means the alleles are different (Aa).
- The genotype is the alleles present (for example Bb); the phenotype is the characteristic shown (for example brown eyes).
- Some characteristics are controlled by a single gene, but most result from multiple genes interacting.
Genetic crosses
- A Punnett square shows the possible combinations of alleles in the offspring of two parents.
- Example: two heterozygous parents (Aa × Aa) give offspring AA, Aa, Aa and aa, a 3 : 1 ratio of dominant to recessive phenotype.
- Ratios are probabilities: each child has the same chance, whatever happened to its brothers and sisters.
Sex determination
- Human body cells have 23 pairs of chromosomes. 22 pairs control characteristics only; one pair determines sex.
- Females have two X chromosomes (XX); males have one X and one Y (XY).
- A Punnett square shows a 50% chance that a baby will be a boy or a girl.
Inherited disorders
- Polydactyly (having extra fingers or toes) is caused by a dominant allele, so only one parent needs to pass it on.
- Cystic fibrosis is a disorder of cell membranes caused by a recessive allele, so a child must inherit it from both parents. Parents who are heterozygous are carriers.
- Embryo screening can identify embryos with a disorder, and gene therapy may one day correct faulty alleles.
- These raise economic, social and ethical issues: screening is expensive, embryos may be destroyed, and some worry it could lead to choosing embryos for other characteristics.
Key terms
- Allele
- A different form of the same gene.
- Dominant
- An allele that is expressed even if only one copy is present.
- Recessive
- An allele that is expressed only when two copies are present.
- Homozygous
- Having two identical alleles of a gene.
- Heterozygous
- Having two different alleles of a gene.
- Genotype
- The combination of alleles an organism has.
- Phenotype
- The characteristic that is shown, resulting from the genotype.
- Punnett square
- A diagram used to predict the outcomes of a genetic cross.
- Carrier
- A person with one recessive allele for a disorder who does not have the disorder.
- Polydactyly
- An inherited disorder causing extra fingers or toes, caused by a dominant allele.
- Cystic fibrosis
- An inherited disorder of cell membranes caused by a recessive allele.