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NotesBiologyTopic 4.8Sex determination & sex-linkage
Back to Biology Topics
4.8.43 min read

Sex determination & sex-linkage

IB Biology • Unit 4

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Contents

  • Sex chromosomes and how sex is determined
  • Sex-linkage: genes carried on the X chromosome
  • IB-style question — why colour blindness is commoner in males
The big idea: Your sex is decided by one pair of chromosomes — the sex chromosomes.

Females are XX (two X chromosomes). Males are XY (one X, one Y).

All other 22 pairs are called autosomes — they are the same in both sexes.

Because the mother is always XX, every egg carries an X. The father is XY, so a sperm carries either an X or a Y — and that is what sets the baby's sex.
Sex chromosomes
The one pair of chromosomes that determines sex: XX in females, XY in males.
Autosomes
The other 22 pairs of chromosomes, which are the same in males and females.
X chromosome
A larger sex chromosome. Females have two; males have one. It carries many genes besides sex.
Y chromosome
A small sex chromosome found only in males. It triggers male development and carries very few other genes.
The sperm decides the sex: Every egg carries an X. A sperm carries an X or a Y.

X-sperm + X-egg → XX → a girl.

Y-sperm + X-egg → XY → a boy.

So the father's sperm determines the baby's sex, and there is a roughly 50:50 (1:1) chance of a boy or a girl each time.
Egg: always XEgg: always X
Sperm: XXX → girlXX → girl
Sperm: YXY → boyXY → boy
Why it's about 1:1: Half of all sperm carry X and half carry Y, so across many babies you expect about half girls (XX) and half boys (XY) — a 1:1 ratio.

The X chromosome carries many ordinary genes that have nothing to do with sex — for example the gene for distinguishing red and green.

A gene on a sex chromosome is sex-linked. Most well-known examples are on the X and are recessive — such as red-green colour blindness and haemophilia.

Writing sex-linked genotypes: We write the allele as a small letter on top of the X, because the gene sits on the X chromosome.

Xᴮ = X carrying the dominant (normal) allele.

Xᵇ = X carrying the recessive (colour-blind) allele.

The Y has no matching gene, so we just write Y — there is no second copy of the allele on it.
Sex-linked gene
A gene carried on a sex chromosome (usually the X), so its inheritance is tied to the offspring's sex.
X-linked recessive
A recessive allele on the X chromosome, e.g. red-green colour blindness or haemophilia.
Carrier
A female (XᴮXᵇ) who has one recessive allele but is unaffected, because her other X carries the dominant allele that masks it. She can still pass the allele on.

Possible genotypes for colour vision

  • XᴮXᴮ — female, unaffected (homozygous dominant)
  • XᴮXᵇ — female, unaffected carrier (heterozygous)
  • XᵇXᵇ — female, colour-blind (needs two recessive alleles — rare)
  • XᴮY — male, unaffected
  • XᵇY — male, colour-blind (just one recessive allele on his single X)
Why a male is colour-blind with only one allele: A male has only one X, and the Y carries no matching allele.

So whatever single allele is on his X shows directly — there is no second copy to mask it.

A single recessive allele (XᵇY) makes him colour-blind. A female would need the recessive allele on both X chromosomes (XᵇXᵇ) to be colour-blind.
Deduce an unaffected female's genotype: If a female is unaffected, she could be XᴮXᴮ (homozygous dominant) or XᴮXᵇ (a carrier).

You usually cannot tell which from her phenotype alone — both look normal. A favourite 1-mark 'deduce' answer is exactly this: homozygous dominant or carrier.

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How this is tested: On Paper 2 a 5-mark Describe asks why red-green colour blindness occurs more often in males than in females — you must link it to males being XY (one X, no matching allele on the Y) so a single recessive allele shows, while females are XX and need two.

On Paper 1 a 1-mark item asks you to deduce the genotype of an unaffected female (answer: homozygous dominant or carrier).

A 2-mark Outline can ask how sex is determined (XX female / XY male; the sperm carries X or Y and decides sex).

IB-style question — explain a sex-linkage cross

A woman who is a carrier for red-green colour blindness (XᴮXᵇ) has children with a man who has normal colour vision (XᴮY). Using a genetic diagram, explain the expected colour-vision outcomes for their daughters and sons, and state why colour blindness is more common in males. [5]

How to score all five marks

  1. State the genotypes. Mother = XᴮXᵇ (carrier, unaffected); father = XᴮY (unaffected). So the mother's eggs are Xᴮ or Xᵇ, and the father's sperm are Xᴮ or Y.
  2. Draw the Punnett square. Combining the gametes gives four equally likely offspring: XᴮXᴮ, XᴮXᵇ, XᴮY, XᵇY.
  3. Daughters. Every daughter gets the father's Xᴮ, so she is either XᴮXᴮ (unaffected) or XᴮXᵇ (a carrier) — no daughter is colour-blind; half of them are carriers.
  4. Sons. A son gets his X from the mother. So he is XᴮY (unaffected) or XᵇY (colour-blind) — about half the sons are colour-blind.
  5. Why males more often. A male has only one X and the Y has no matching allele, so a single recessive allele shows; a female needs the recessive allele on both X chromosomes, which is rarer. (Award marks for: genotypes; Punnett/gametes; daughters outcome; sons outcome; the one-X reason.)

Final answer

Mother XᴮXᵇ × father XᴮY → XᴮXᴮ, XᴮXᵇ, XᴮY, XᵇY. No daughter is colour-blind (½ are carriers); about ½ of sons are colour-blind. Males are affected more often because they have only one X (the Y carries no matching allele), so a single recessive allele already shows.

Father's sperm: XᴮFather's sperm: Y
Mother's egg: XᴮXᴮXᴮ — unaffected girlXᴮY — unaffected boy
Mother's egg: XᵇXᴮXᵇ — carrier girl (unaffected)XᵇY — colour-blind boy
✓ Why this scores full marks: It shows the gametes and the four offspring (not just states a ratio), then reads off daughters and sons separately, and ends with the cause — males have one X with no masking allele.

The classic slip is to give a ratio without the genetic diagram, or to forget that daughters all inherit the father's Xᴮ so none are affected here.
Male (XY)Female (XX)
Sex chromosomesOne X and one YTwo X chromosomes
Copies of the gene on the XOnly ONE copyTWO copies
Does the Y carry a matching allele?No — the Y is short and lacks it—
To be colour-blind you need…Just ONE recessive allele (on the single X)TWO recessive alleles (one on each X)
ResultMore common — a single recessive allele already showsRarer — a dominant allele on the other X usually masks it

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the sex chromosomes present in a typical human female and in a typical human male. [1 mark]

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