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Sex linkage and colour blindness

Inheritance · Monohybrid inheritance · note 5 of 5

Spec 17.4.16, 17.4.17, 17.4.18
Supplement (what this means)Supplement: only for the Extended papers (2 and 4). Core students can skip it. What the labels mean
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Sex linkage and colour blindnessSpec 17.4.16, 17.4.17, 17.4.18

In short

A sex-linked characteristic is a feature in which the gene responsible is located on a sex chromosome, making it more common in one sex. Red-green colour blindness is caused by a recessive allele on the X chromosome. Males have only one X, so one recessive allele makes them colour blind. Females with one copy are carriers.

A sex-linked characteristic is a feature in which the gene responsible is located on a sex chromosome. This makes the characteristic more common in one sex than in the other.

Red-green colour blindness is an example. The gene is on the X chromosome and the allele for colour blindness is recessive. The Y chromosome does not carry this gene.

  • Males (XY) have only one X chromosome, so one recessive allele is enough to make them colour blind.
  • Females (XX) need two recessive alleles to be colour blind. With one, they are carriers and have normal colour vision.
  • So colour blindness is more common in males than in females.

Write the allele letter straight after the X: XB is the normal allele and Xb is the colour blindness allele. Exam papers print the B or b as a small raised letter. The Y has no allele, so a male genotype is XB Y or Xb Y.

Carrier mother (XB Xb) × normal father (XB Y)
XB (egg)Xb (egg)
XB (sperm)XB XB normal femaleXB Xb carrier female
Y (sperm)XB Y normal maleXb Y colour-blind male

The probability that a son is colour blind is 1 in 2 (50%). None of the daughters is colour blind, but half are carriers. Phenotypic ratio: 2 normal females : 1 normal male : 1 colour-blind male.

Punnett square for a carrier mother (XB Xb) and a normal father (XB Y): eggs XB and Xb, sperm XB and Y, giving XB XB normal female, XB Xb carrier female, XB Y normal male and Xb Y colour-blind male. (opens full size in a new tab)
Half of the sons are expected to be colour blind; none of the daughters is, but half are carriers.
Exam tip:

Always write sex-linked genotypes with X and Y and put the allele letter on the X. Write Xb Y, not bb, for a colour-blind male.

Quick check

  1. Define phenotype.

    Show answer

    The observable features of an organism.

  2. What is a heterozygous genotype?

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    Two different alleles of a particular gene, for example Tt.

  3. Two parents without a condition have a child with it. Is the allele dominant or recessive?

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    Recessive, and both parents are heterozygous carriers.

  4. Supplement Which genotype is used as the tester in a test cross?

    Show answer

    Homozygous recessive.

  5. Supplement Why is red-green colour blindness more common in males?

    Show answer

    Males have one X chromosome, so one recessive allele is enough. Females need two.

Written and checked against the Cambridge IGCSE Biology (0610) specification · Updated October 2026

Frequently asked questions

What is a genotype and phenotype?

A genotype is the genetic make-up of an organism in terms of the alleles present, such as Tt. A phenotype is the observable features of an organism, such as being tall. A heterozygous Tt pea plant has the tall phenotype, because the dominant allele T is expressed even though a recessive allele is present.

What is a Punnett square used for in genetics?

A Punnett square is used to show the possible offspring of a genetic cross. The gametes of one parent go along the top and the other along the side, and the boxes show the possible offspring genotypes. From these you work out the phenotypes and the ratio, such as 3 : 1 or 1 : 1.

How do you find out if an organism is homozygous or heterozygous?

Supplement You use a test cross: cross the organism showing the dominant phenotype with a homozygous recessive individual. If any offspring show the recessive phenotype, the unknown parent must be heterozygous. If all the offspring show the dominant phenotype, it is probably homozygous dominant. A large number of offspring gives a more reliable result.

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