What makes a gene sex-linked?
Humans have 23 pairs of chromosomes. One pair decides sex: females are XX and males are XY. The X chromosome is large and carries about 800 genes that have nothing to do with being male or female, such as genes for colour vision and blood clotting. The Y chromosome is small and carries only a few genes.
A gene found on the X chromosome (and not on Y) is called X-linked or sex-linked. Its pattern of inheritance depends on the sex of the child.
X-linked recessive traits
We write the gene as a letter on the X: XB = normal allele (dominant), Xb = faulty allele (recessive).
- Female XBXB: normal.
- Female XBXb: normal but a carrier (she can pass Xb on).
- Female XbXb: affected.
- Male XBY: normal. Male XbY: affected.
A male has only one X, so he cannot be a carrier: he is either normal or affected. This is called being hemizygous.
Key features of the recessive pattern
- Many more males than females are affected.
- An affected father never passes it to his sons (sons get his Y), but all his daughters become carriers.
- It often skips a generation: grandfather → carrier daughter → grandson (criss-cross inheritance).
- An affected daughter needs an affected father and at least a carrier mother.
Examples: red-green colour blindness, haemophilia A (blood does not clot well), Duchenne muscular dystrophy.
X-linked dominant traits
Here one faulty allele is enough in anyone, male or female.
- An affected father passes it to all his daughters and none of his sons.
- An affected heterozygous mother passes it to half of her children, sons and daughters alike.
- More females than males are affected, because females have two chances to get the X.
Examples: a rare form of rickets that does not respond to vitamin D (hypophosphataemic rickets) and Rett syndrome.
There are also a few Y-linked genes. They pass only from father to son, every time.
Solving sex-linked problems with a Punnett square
Always keep the gene on the X letter. Steps:
- Write each parent's genotype, e.g. mother XBXb, father XBY.
- List the gametes: mother XB, Xb; father XB, Y.
- Fill the 2×2 square: XBXB, XBXb, XBY, XbY.
- Read the answer separately for daughters and sons: all daughters normal (half carriers); half the sons affected.
In mixed exam problems, sex-linked genes are often combined with other patterns you already know: codominance (both alleles show, as in AB blood group), incomplete dominance (a blend, as in pink snapdragons) and multiple alleles (more than two forms, as in the ABO blood groups IA, IB, i). Solve each gene on its own, then combine.
Try it at home
Use two red cards (normal X), one grey card (faulty X) and one blue card (Y). Mother = red + grey, father = red + blue. Shuffle each pair, draw one card from each 20 times and count how many sons come out "grey + blue". You should get close to half of the sons.
Key formulas and definitions
- Female genotypes: XᴮXᴮ (normal), XᴮXᵇ (carrier), XᵇXᵇ (affected)
- Male genotypes: XᴮY (normal), XᵇY (affected) – no carrier males
- Carrier mother × normal father → ½ sons affected, ½ daughters carriers
- Affected father × normal mother → all daughters carriers, all sons normal
- Hemizygous: having only one copy of a gene (males for X-linked genes)
Worked examples
1. A carrier woman marries a normal man. What fraction of their sons will be colour-blind?
Mother XᴮXᵇ gives Xᴮ or Xᵇ. Father XᴮY gives Y to every son. Sons: XᴮY or XᵇY. So ½ of the sons are colour-blind.
2. A colour-blind man marries a woman with normal genes (XᴮXᴮ). Predict the children.
Father XᵇY, mother XᴮXᴮ. Daughters XᴮXᵇ: all normal but carriers. Sons XᴮY: all normal. The trait is hidden for one generation.
3. A colour-blind girl is born. What must be true about her parents?
She is XᵇXᵇ, so she got Xᵇ from each parent. Her father must be colour-blind (XᵇY) and her mother must be at least a carrier (XᴮXᵇ or XᵇXᵇ).
4. Haemophilia: a carrier woman marries a man with haemophilia. What is the chance that a child (sex unknown) has haemophilia?
Mother XᴴXʰ × father XʰY. Children: XᴴXʰ, XʰXʰ, XᴴY, XʰY. Two of four are affected, so the chance is ½ (one affected daughter type and one affected son type).
Common mistakes
- Writing the allele as a separate letter (Bb) instead of on the X (XᴮXᵇ). The Y must carry no letter.
- Saying a man can be a carrier of an X-linked recessive trait. He has one X: normal or affected only.
- Thinking a son can get colour blindness from his father. A son always gets Y from his father.
- Giving one answer for 'children' when the question asks for sons or daughters separately. Read the question and split by sex.