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B6.2 ยท 4.6.1.4Paper 2๐Ÿ”ถ Year 10 โ€” covered

Sex Determination & Inherited Disorders

Sex chromosomes XX/XY, Punnett squares for sex, inherited disorders (cystic fibrosis, polydactyly), genetic screening.

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Key facts

Sex chromosomes

  • Humans have 23 pairs of chromosomes. The 23rd pair determines sex.
  • Females: XX. Males: XY.
  • Each gamete carries one sex chromosome. Egg always carries X. Sperm carries X or Y.
  • If Y-carrying sperm fertilises the egg โ†’ XY โ†’ male. If X-carrying sperm โ†’ XX โ†’ female.
  • The probability of each sex is 50%.

Inherited disorders

  • Cystic fibrosis โ€” caused by a recessive allele (f). Must have ff to show the disorder.
  • Carriers have Ff โ€” they do not show symptoms but can pass the allele to offspring.
  • Polydactyly (extra fingers/toes) โ€” caused by a dominant allele (P). Only need one copy to show it.
  • Genetic screening โ€” testing embryos or adults for alleles associated with inherited disorders.
  • Ethical issues: some people argue against "designer babies" or terminating pregnancies based on genetic tests.
Exam questions โ€” 3 questions ยท 9 marks
โšก Extended questions included. Read the hint. Write in full sentences. AI marks against the AQA mark scheme.
1 markSex determinationAQA 8461 style

A couple have four daughters. What is the probability that their next child will be a boy?

A 0% โ€” they can only have daughters
B 100% โ€” after four girls the next must be a boy
C 50%
D 25%
1 markCystic fibrosis inheritanceAQA 8461 style

Two parents are both carriers of cystic fibrosis (Ff ร— Ff). What is the probability that a child has cystic fibrosis?

A 0%
B 25%
C 50%
D 75%
4 marksPunnett square โ€” polydactylyAQA 8461 P2 style

Polydactyly is caused by a dominant allele (P). A person with polydactyly (Pp) has a child with a person without polydactyly (pp). Draw or describe a Punnett square and state the probability of their child having polydactyly. (4 marks)

Hint: Pp ร— pp: cross P and p from first parent with p and p from second parent. 50% Pp (polydactyly), 50% pp (unaffected).
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