IB Biology HL Topic 4 — Genetics & Inheritance Paper 1 & 2 Core idea ~10 min read

Sex Determination

One chromosome pair out of 23 decides biological sex in humans — and because that pair is mismatched in males, a whole family of conditions is inherited differently in males and females. This is the page where genetics stops being symmetrical.

📚 What you need to know

Two chromosomes, very different sizes

The X chromosome is large and carries hundreds of genes. The Y is short and carries only a small number, most of them to do with male development. That mismatch is the whole reason sex linkage behaves the way it does.

A female with XX has two copies of every gene on the X. A male with XY has just one copy, and no partner allele on the Y to mask it. Whatever allele a male has on his single X will show in his phenotype — dominant or recessive.

The mismatched pair every other chromosome pair is a matching set X chromosome Y chromosome large, hundreds of genes short, very few genes Females XX → two copies. Males XY → one copy of each X gene. the Y carries the SRY gene, which switches on testis development
Genes for things like blood clotting sit on the X and have no partner on the Y. In a male there is no second copy to fall back on.

Why the father decides the sex

During meiosis the sex chromosomes separate like any other pair. A female has XX, so every egg gets an X. A male has XY, so half his sperm get the X and half get the Y.

Whichever sperm reaches the egg first decides it. X sperm + X egg = XX, a girl. Y sperm + X egg = XY, a boy. The expected ratio is 1 : 1, so roughly half of all children are male.

GametesX (from father)Y (from father)
X (from mother)XX — femaleXY — male
X (from mother)XX — femaleXY — male
Ratio 1 : 1. 50% chance of a girl, 50% chance of a boy — and, as always, the odds reset with every pregnancy. This is the one Punnett square where you write chromosomes in the boxes instead of alleles.
Careful with wording: the father does not “choose” anything. Say that half his sperm carry X and half carry Y, so the sex of the child depends on which type of sperm fertilises the egg.

Sex-linked inheritance: haemophilia

Haemophilia is caused by a recessive allele of a gene on the X chromosome. That gene codes for factor VIII, a protein needed for blood to clot. Without working factor VIII, bleeding does not stop properly.

Two alleles: XF gives working factor VIII, Xf does not.

Now count the possibilities.

GenotypeSexPhenotype
XFXFFemaleNormal clotting
XFXfFemaleNormal clotting, but a carrier
XfXfFemaleHaemophilia (rare)
XFYMaleNormal clotting
XfYMaleHaemophilia

Females have three possible phenotypes: normal, carrier or affected. Males have only two: normal or affected. There is no such thing as a male carrier for an X-linked gene, because he has no second X to carry it on.

That is why the condition is far more common in males. A male needs just one faulty allele. A female needs two — which means her father must be affected and her mother must be at least a carrier.

📚 Writing sex-linked genotypes

Worked examples

WORKED EXAMPLE 1

A carrier female is married to a male with normal clotting. Draw the cross and state the expected phenotypes of their children.

Step 1: parental genotypes Carrier female XFXf × normal male XFY Step 2: gametes Mother: XF or Xf    Father: XF or Y Step 3: combine the four boxes XFXF, XFXf, XFY, XfY 1 normal girl : 1 carrier girl : 1 normal boy : 1 boy with haemophilia No daughter is affected here, because every daughter receives a working XF from her father.
GametesXF (father)Y (father)
XF (mother)XFXF — normal femaleXFY — normal male
Xf (mother)XFXf — carrier femaleXfY — male with haemophilia
WORKED EXAMPLE 2

Using the same cross, calculate the probability that a child is a boy with haemophilia, and the probability that a boy has haemophilia.

Step 1: read the question carefully These are two different questions. One counts all children; the other counts only boys. Step 2: probability that a child is an affected boy 1 box out of 4 → 1/4 = 25% Step 3: probability that a boy is affected Only 2 boxes are boys, and 1 of those is affected → 1/2 = 50% 25% of all children; 50% of the sons “Of the boys” narrows the sample down to two boxes. Underline that phrase in the question.

💡 Exam tip

⚠ Common mix-up

Up next: Pedigree Charts — how to read a family tree and work out whether a condition is dominant, recessive or sex-linked.

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