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Why do some traits come in clear-cut categories while others vary smoothly across a whole range?

Explain patterns of human variation, including multiple alleles, polygenic inheritance and sex linkage, and distinguish continuous from discontinuous variation

A focused answer to the WACE Year 12 Human Biology Unit 4 dot point on patterns of variation. Multiple alleles using ABO blood groups, polygenic inheritance and continuous variation, sex-linked inheritance, and how to classify a trait as continuous or discontinuous.

Reviewed by: AI editorial process; not yet individually human-reviewed

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What this dot point is asking

WACE wants you to recognise and explain the patterns behind human variation, building on the gene-and-allele vocabulary. The key division is between traits that fall into categories and traits that vary smoothly, and the genetics that produce each.

Multiple alleles: the ABO blood groups

Some genes have more than two alleles in the population, called multiple alleles, although any one person still carries only two. The classic example is the ABO blood group gene, which has three alleles: IA, IB and i. Alleles IA and IB are codominant (both expressed when present together) and both are dominant over i. This produces four blood group phenotypes (A, B, AB and O) from six genotypes. This is discontinuous variation: you are one group or another, with no in-between.

Polygenic inheritance and continuous variation

Many human traits are controlled by several genes acting together, called polygenic inheritance. Each gene adds a small effect, so the trait varies across a smooth range rather than in categories. Height, body mass and skin colour are polygenic. Because so many alleles combine, and because the environment also affects these traits, the population shows continuous variation with a normal (bell-shaped) distribution: most people are near the middle and fewer at the extremes.

Sex-linked inheritance

Genes carried on the sex chromosomes show sex linkage. Most sex-linked genes are on the X chromosome (X-linked). Because females are XX and males are XY, the inheritance pattern differs between the sexes. A male has only one X chromosome, so a single recessive allele on it is expressed (he has no second X to mask it). A female needs two copies of a recessive allele to show the trait, because a normal allele on her other X can mask it. This is why X-linked recessive conditions such as red-green colour blindness and haemophilia are more common in males. Females with one copy are carriers.

Environmental influence

Variation is not purely genetic. The environment affects how genes are expressed: diet affects height and mass, ultraviolet exposure affects skin colour, and exercise affects muscle. Continuous (polygenic) traits are the most affected by the environment, which adds to the smooth spread of values. Discontinuous traits such as blood group are essentially unaffected by the environment.

How this maps to the exam

Expect questions that ask you to classify a trait as continuous or discontinuous and justify it, work with ABO blood group genotypes and phenotypes, or explain why a sex-linked condition is more common in one sex. You may be given a population distribution and asked whether it shows continuous or discontinuous variation and what that implies about the genetics.

Exam-style practice questions

Practice questions written in the style of SCSA exam questions on this dot point, with worked answer explainers. The year tag is the paper they imitate, not the source.

WACE 20226 marksRed-green colour blindness is a sex-linked recessive condition carried on the X chromosome. A woman who is a carrier has children with a man who has normal colour vision. Using a Punnett square, determine the expected proportions of children who are colour blind, and explain why this condition is more common in males.
Show worked answer →

A 6 mark response needs the correct cross, the offspring ratios, and the reason for the sex difference.

Genotypes
Let XNX^N be the normal allele and XnX^n the colour-blind allele. Carrier mother is XNXnX^N X^n; normal father is XNYX^N Y.
Punnett square
Crossing XNXnX^N X^n with XNYX^N Y gives offspring: XNXNX^N X^N, XNXnX^N X^n, XNYX^N Y, XnYX^n Y.
Proportions
Daughters: half are XNXNX^N X^N (normal) and half are XNXnX^N X^n (carriers); no daughters are colour blind. Sons: half are XNYX^N Y (normal) and half are XnYX^n Y (colour blind). So overall 1 in 4 of all children (half the sons) are colour blind.
Why more common in males
Males have only one X chromosome, so a single recessive allele is expressed. Females need two copies of the recessive allele to be affected, which is much less likely.

Markers reward the correct genotypes, a clear Punnett square, the ratios, and the single-X explanation.

WACE 20244 marksDistinguish between continuous and discontinuous variation, giving one human example of each, and explain why polygenic traits tend to show continuous variation.
Show worked answer →

A 4 mark answer needs the distinction, examples, and the polygenic link.

Continuous variation
A trait that varies smoothly across a range with many intermediate values, for example human height or skin colour.
Discontinuous variation
A trait that falls into distinct categories with no intermediates, for example ABO blood group.
Why polygenic traits are continuous
Polygenic traits are controlled by many genes, often with environmental influence. The combined effect of many genes produces a wide range of small differences, giving a smooth, continuous range rather than a few clear categories.

Markers reward the smooth-range versus distinct-categories distinction, correct examples, and the many-genes explanation.

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