Sex linkage and red-green colour blindness

Membranes, Proteins, DNA and Gene Expression · Inheritance, cystic fibrosis and genetic screening · note 3 of 6

Sex linkage and red-green colour blindnessSpec 2.15

In short

A sex-linked gene is carried on a sex chromosome. Red-green colour blindness is caused by a recessive allele on the X chromosome. Males (XY) have only one X chromosome, so one copy of the allele causes the condition, whereas females (XX) need two copies, so the condition is more common in males.

Human females have two X chromosomes (XX) and males have one X and one Y (XY). The Y chromosome is shorter and carries few of the genes found on the X chromosome. A sex-linked characteristic is controlled by a gene on a sex chromosome, and here we consider genes on the X chromosome.

Red-green colour blindness is caused by a recessive allele on the X chromosome. The alleles are written as superscripts on the X: Xᴮ (normal colour vision, dominant) and Xᵇ (colour blind, recessive).

Genotypes and phenotypes
GenotypePhenotype
XᴮXᴮFemale, normal colour vision
XᴮXᵇFemale, normal colour vision, carrier of the allele
XᵇXᵇFemale, colour blind
XᴮYMale, normal colour vision
XᵇYMale, colour blind

A cross involving a carrier mother

A woman who is a carrier of red-green colour blindness (XᴮXᵇ) has children with a man with normal colour vision (XᴮY). Give the possible genotypes and phenotypes of their children.

  1. Gametes from the mother: Xᴮ or Xᵇ. Gametes from the father: Xᴮ or Y.
  2. Daughters: XᴮXᴮ (normal) or XᴮXᵇ (carrier, normal vision).
  3. Sons: XᴮY (normal) or XᵇY (colour blind).

Answer: Half of the sons (so 1 in 4 of all children) are colour blind; no daughters are colour blind, but half the daughters are carriers.

Why the condition is more common in males

  • A male has only one X chromosome, so a single recessive allele on it is always expressed (there is no second allele to mask it).
  • A female must inherit the recessive allele on both of her X chromosomes to show the condition.
  • A male inherits his X chromosome from his mother, never from his father. A colour-blind man passes the allele to all of his daughters (who become carriers) and to none of his sons.
Exam tip:

Write sex-linked genotypes with the X, and the allele as a superscript, and always include the Y for males. Marks are lost for writing the alleles without the sex chromosomes.

Punnett square for the cross XBXb by XBY with offspring genotypes and phenotypes, and X and Y chromosomes showing the colour vision gene locus on the X chromosome only. (opens full size in a new tab)
Colour blindness is sex-linked: the gene is on the X chromosome only.

Written and checked against the Edexcel International A Level Biology (YBI11) specification · Updated October 2026

Frequently asked questions

What is the difference between an allele and a gene?

A gene is a sequence of bases on a DNA molecule that codes for a sequence of amino acids in a polypeptide. An allele is one of the different forms of that gene. A person has two alleles of each gene, one from each parent, and these may be the same or different.

How do you tell from a pedigree diagram whether an allele is dominant or recessive?

If two unaffected parents have an affected child, the allele for the condition is recessive and both parents are carriers. If two affected parents have an unaffected child, the allele is dominant and both parents are heterozygous. Always name the individuals and give their genotypes.

Why does cystic fibrosis cause problems in the lungs, digestive system and reproductive system?

The faulty CFTR chloride channel means less water moves out of cells by osmosis, so mucus is thick and sticky. It blocks the airways, causing infections, blocks the pancreatic duct so enzymes cannot reach the intestine, and blocks the tubes that carry sperm.

All 5 questions on Inheritance, cystic fibrosis and genetic screening