Key Genetic Terminology

  • Gene: a length of DNA that codes for a specific protein
  • Allele: a version of a gene (e.g. Brown eye allele vs blue eye allele)
  • Genotype: the combination of alleles an organism has (e.g. Aa, BB, tt)
  • Phenotype: the observable characteristic that results from the genotype (e.g. Brown eyes)
  • Homozygous: two identical alleles (AA or aa)
  • Heterozygous: two different alleles (Aa)

Why Two Carrier Parents Can Have an Affected Child

If both parents are heterozygous (carriers) for a recessive condition: genotype Aa: they do not show the condition themselves (the dominant allele masks the recessive one). However, using a Punnett square:

Aa
AAAAa
aAaaa

There is a 1 in 4 (25%) chance that each child will be homozygous recessive (aa) and show the recessive trait. This is why genetic conditions like cystic fibrosis and sickle cell anaemia can appear in families with no previous history of the condition: both parents were unknowing carriers.