Sex-linked inheritance — colour blindness and haemophilia pedigree analysis

medium CBSE NEET NEET 2023 4 min read

Question

Explain sex-linked inheritance using colour blindness as an example. Why is colour blindness more common in males than females? Show the possible genotypes and phenotypes for a cross between a carrier female and a normal male.

(NEET 2023, similar pattern)


Solution — Step by Step

Colour blindness and haemophilia are both caused by recessive alleles on the X chromosome. Since males have only one X chromosome (XY), a single recessive allele is sufficient to express the trait. Females have two X chromosomes (XX), so they need two recessive alleles to be affected.

Let XCX^C = normal vision allele (dominant), XcX^c = colour blind allele (recessive).

GenotypePhenotype
XCXCX^C X^CNormal female
XCXcX^C X^cCarrier female (normal vision, but carries the allele)
XcXcX^c X^cColour blind female
XCYX^C YNormal male
XcYX^c YColour blind male

Males cannot be “carriers” — they either have the trait or they do not, because they have only one X.

Parents: XCXcX^C X^c (carrier female) x XCYX^C Y (normal male)

XCX^CYY
XCX^CXCXCX^C X^CXCYX^C Y
XcX^cXCXcX^C X^cXcYX^c Y

Offspring:

  • Daughters: 1 normal (XCXCX^C X^C) : 1 carrier (XCXcX^C X^c) — all daughters have normal vision
  • Sons: 1 normal (XCYX^C Y) : 1 colour blind (XcYX^c Y) — 50% chance a son is colour blind

Overall: 50% of sons are colour blind, 0% of daughters are colour blind (but 50% of daughters are carriers).

Males need only one copy of XcX^c to be colour blind (hemizygous condition). Females need two copies — one from each parent. For a female to be colour blind, her father MUST be colour blind (XcYX^c Y) AND her mother must be at least a carrier (XCXcX^C X^c).

The probability is simply much lower for females. About 8% of males are colour blind, but only about 0.5% of females.


Why This Works

Sex-linked inheritance follows a distinctive pattern: affected fathers cannot pass the trait to sons (fathers give Y to sons, not X). The trait appears to “skip” generations — an affected grandfather passes the allele through his carrier daughter to his grandson. This criss-cross inheritance pattern is the signature of X-linked recessive traits.

The same logic applies to haemophilia. Queen Victoria was a carrier of haemophilia, and the trait spread through European royal families via her daughters (carriers) to her grandsons (affected).

NEET pedigree analysis tip: if a trait appears mostly in males and never passes directly from father to son, it is likely X-linked recessive. If affected fathers always have affected daughters, it is likely X-linked dominant. Learn to distinguish these patterns quickly.


Common Mistake

The most common error: writing that a colour-blind father can have colour-blind sons. For an X-linked trait, the father gives his Y chromosome (not X) to sons. A colour-blind father (XcYX^c Y) passes XcX^c only to his daughters (who become carriers if the mother is normal). His sons get the Y from him and an X from the mother — so the son’s vision depends entirely on the mother’s genotype.

Another frequent mistake: forgetting that carrier females exist. When a question says “a normal female whose father was colour blind,” this female MUST be a carrier (XCXcX^C X^c) — she received XcX^c from her father. Students sometimes write her genotype as XCXCX^C X^C, which is impossible.

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