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GCSE/Combined Science/OCR

B5.1Inheritance: genes, alleles, dominant/recessive, Punnett squares, sex determination and inherited disorders

Notes

Inheritance (B5.1)

Genetics is one of the most reliably examined Gateway A topics. Expect a Punnett square question, probability calculations, a question on sex determination and likely a question on cystic fibrosis or another inherited disorder.

📖DefinitionKey terminology

TermDefinition
GeneA section of DNA coding for a protein; determines a characteristic
AlleleA version of a gene (e.g. the tall allele or the dwarf allele of the height gene)
GenotypeThe alleles an organism carries (e.g. Tt)
PhenotypeThe observable characteristic (e.g. tall)
DominantAn allele that is expressed when only ONE copy is present (written in upper case: T)
RecessiveAn allele only expressed when TWO copies are present (lower case: t)
HomozygousBoth alleles identical (TT or tt)
HeterozygousTwo different alleles (Tt)
CarrierHeterozygous for a recessive disorder — has one copy of the recessive allele but does not show the disorder

Punnett squares

Used to predict the ratios of offspring genotypes and phenotypes from a cross.

Example: tall (Tt) × tall (Tt)

Tt
TTTTt
tTttt

Genotype ratios: 1 TT : 2 Tt : 1 tt Phenotype ratios: 3 tall : 1 dwarf (because T is dominant) Probability of dwarf offspring: 1 in 4 = 25%

Sex determination

Humans have 23 pairs of chromosomes. Pair 23 are the sex chromosomes:

  • XX = female
  • XY = male

All eggs carry X. Sperm can carry X or Y. So sex is determined by the sperm. A Punnett cross:

X (mother)X (mother)
X (sperm)XX (girl)XX (girl)
Y (sperm)XY (boy)XY (boy)

Ratio: 1:1 male:female — every pregnancy is a 50% chance of each sex.

Monohybrid inheritance — worked examples

Cystic fibrosis (CF)

  • Caused by a recessive allele (f).
  • A person must be homozygous ff to have the disease.
  • Ff = carrier (healthy but can pass on the allele).
  • FF = unaffected (no copies).

Two carrier parents (Ff × Ff):

Ff
FFFFf
fFfff

Probability of child having CF: 1 in 4 = 25%. Probability of child being a carrier: 2 in 4 = 50%.

Polydactyly (extra fingers/toes)

  • Caused by a dominant allele (D).
  • Any person with at least one D allele shows the condition.
  • Dd (heterozygous) still has polydactyly.

Predicted ratios vs actual ratios

Punnett squares give predicted probabilities. Actual ratios in small families will differ because inheritance is random. The larger the sample, the closer to the theoretical ratio.

Common Gateway-paper mistakes

  1. Forgetting to write out the parent genotypes above the Punnett grid.
  2. Writing ratios as fractions instead of converting to percentages when asked for probability.
  3. Confusing "carrier" with "affected" for recessive disorders.
  4. Saying dominant traits are "stronger" or "better" — dominant just means expressed with one copy.
  5. Not labelling the cross (e.g. F₁ generation).

AI-generated · claude-opus-4-7 · v3-ocr-combined-science

Practice questions

Try each before peeking at the worked solution.

  1. Question 15 marks

    Punnett square — cystic fibrosis

    Both parents are carriers of cystic fibrosis (Ff). Cystic fibrosis is caused by a recessive allele.

    (a) Draw a Punnett square to show the possible genotypes of their offspring. [3]
    (b) State the probability (as a percentage) that a child will have cystic fibrosis. [1]
    (c) State the probability that a child will be a carrier. [1]

    [5 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-ocr-combined-science

  2. Question 26 marks

    Sex determination

    (a) State the sex chromosomes present in a human male and a human female. [2]
    (b) Draw a Punnett square to show the sex chromosomes of possible offspring from a cross between a human female and a human male. [3]
    (c) State the probability that the next child will be female. [1]

    [6 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-ocr-combined-science

  3. Question 35 marks

    Key genetics terms

    Define each of the following terms:
    (a) allele [1]
    (b) genotype [1]
    (c) phenotype [1]
    (d) heterozygous [1]
    (e) carrier [1]

    [5 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-ocr-combined-science

  4. Question 44 marks

    Dominant vs recessive — polydactyly

    Polydactyly is a condition where a person has extra fingers or toes. It is caused by a dominant allele (D). The allele for a normal number of digits is recessive (d).

    A heterozygous person with polydactyly (Dd) has a child with a person who does not have polydactyly (dd).

    (a) Draw a Punnett square to show the possible genotypes of their offspring. [3]
    (b) What percentage of offspring are predicted to have polydactyly? [1]

    [4 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-ocr-combined-science

Flashcards

B5.1 — Inheritance: genes, alleles, dominant/recessive, Punnett squares, sex determination and inherited disorders

10-card SR deck for OCR Combined Science (J250) topic B5.1

10 cards · spaced repetition (SM-2)