AP Syllabus focus:
‘Autosomal, genetically linked, and sex-linked inheritance patterns can often be predicted from data, including family pedigrees.’
Inheritance patterns describe how traits pass through families. AP Biology emphasises recognising autosomal versus sex-linked patterns and using pedigree evidence to infer likely genotypes and predict risk in offspring.
Core idea: tracking alleles through pedigrees
A pedigree is a family diagram showing phenotypes across generations; it helps infer whether a trait is autosomal or sex-linked, and whether it is likely dominant or recessive.

Standard pedigree symbols used to represent sex (square = male, circle = female), affected status (filled symbols), carrier status (partially filled or marked symbols), and other common annotations (e.g., deceased individuals). Using a consistent symbol key is essential because pedigree analysis relies on recognizing transmission patterns across generations rather than on individual cases. Source
Pedigree: A diagram that tracks a trait through multiple generations to reveal patterns of inheritance and allow genotype inference from phenotype relationships.
When analysing pedigrees, focus on:
Which sexes are affected and in what proportions
Whether the trait appears in every generation or skips generations
Whether affected fathers pass the trait to sons (male-to-male transmission)
Whether unaffected parents can produce affected offspring (suggests recessive inheritance)
Autosomal inheritance patterns
Autosomal dominant (often “vertical” pattern)
Typical clues:
Appears in every generation if fully penetrant
Affected individuals usually have an affected parent
Males and females affected at similar rates
Father-to-son transmission can occur (strong evidence it is not X-linked)
Genotype logic:
Many affected individuals are heterozygous (Aa), because homozygous dominant may be rare or severe.
Unaffected individuals are typically aa and do not transmit the dominant phenotype.
Autosomal recessive (often “horizontal” pattern)
Typical clues:
Can skip generations
Unaffected parents may have affected children (both parents often carriers)
Males and females affected at similar rates
Increased frequency with consanguinity (shared ancestry raises the chance of shared recessive alleles)
Carrier: A heterozygous individual who has one recessive allele that does not affect phenotype but can be passed to offspring.
Sex-linked inheritance patterns (primarily X-linked)
Because males are XY, they are hemizygous for most X-linked genes: a single recessive allele on the X chromosome can be expressed in the phenotype.
Hemizygous: Having only one copy of a gene (common for X-linked genes in XY males), so any allele present is expressed.
X-linked recessive
Common pedigree clues:

Conceptual family diagram illustrating X-linked recessive inheritance, emphasizing that males (XY) express a recessive X-linked allele with just one affected X, while females usually require two affected X chromosomes to express the trait. The figure also clarifies why affected fathers do not pass X-linked traits to sons (sons inherit the Y from their father) but can pass the affected X to all daughters. Source
More males affected than females
Affected males are often born to unaffected (carrier) mothers
No father-to-son transmission (fathers give sons the Y chromosome)
Daughters of affected fathers receive the father’s X and are at least carriers if the mother provides a normal allele
Key transmission ideas:
Carrier mothers can pass the recessive allele to sons (affected) or daughters (carriers/affected depending on father)
Female expression typically requires two recessive alleles, so affected females are less common and often indicate an affected father plus a carrier/affected mother
X-linked dominant
Common pedigree clues:
Often appears in every generation
No father-to-son transmission
Affected fathers pass the trait to all daughters (they receive his only X) and no sons
Affected mothers can pass the trait to sons or daughters
Y-linked (rare)
Typical clues:
Only males affected
Father-to-son transmission in every generation This pattern is uncommon because the Y chromosome contains relatively few genes.
Genetically linked inheritance (pattern-level recognition)
Genes on the same chromosome are genetically linked, so allele combinations may be inherited together more often than expected by chance.

Diagram comparing unlinked genes (independent assortment) with linked genes at different distances, showing how recombination produces recombinant (nonparental) offspring. It highlights the key quantitative idea that recombination frequency ranges from 0% (complete linkage) up to 50% (effectively unlinked), which is what creates deviations from expected independent-assortment ratios. Source
In family data, linkage can look like:
Two traits co-segregating (appearing together in offspring) across generations
Deviations from expected independent-assortment ratios, especially in larger datasets Pedigrees can suggest linkage, but confirming linkage typically requires more offspring data and recombination analysis.
FAQ
If some individuals with the dominant genotype do not show the phenotype, the trait may appear to “skip” generations.
This can lead to misclassification unless multiple relatives and confirmed genotypes are considered.
Females can be affected if they inherit two recessive alleles, for example:
an affected father and a carrier mother
an affected mother and an affected father
Skewed X-inactivation can also influence severity.
Clear male-to-male transmission (affected father and affected son) strongly indicates the gene is not on the X chromosome.
It suggests autosomal inheritance or Y-linkage (if only males are affected).
Random X-inactivation can create mosaic expression in heterozygous females.
If inactivation is skewed, a “carrier” female may show mild or even substantial symptoms, complicating phenotype-based genotype calls.
Y-linked traits show strict father-to-son transmission with no affected females.
Male-limited autosomal traits can appear only in males but do not require father-to-son transmission; unaffected fathers can have affected sons if the allele is inherited autosomally.
Practice Questions
In a pedigree, an affected father has no affected sons, but all his daughters are affected. State the most likely inheritance pattern and one piece of evidence supporting it. [2 marks]
1 mark: X-linked dominant
1 mark: No father-to-son transmission and all daughters affected by affected father
A trait is X-linked recessive. A carrier female mates with an unaffected male. Describe the expected phenotypes of sons and daughters and explain your reasoning using sex chromosomes and allele transmission. [5 marks]
1 mark: Sons have a 50% chance of being affected
1 mark: Sons get Y from father and X from mother; mother can pass recessive allele
1 mark: Daughters have a 0% chance of being affected (in this cross)
1 mark: Daughters have a 50% chance of being carriers
1 mark: Daughters receive a normal X from the unaffected father, masking a recessive allele from the mother
