F225.1.1- Inheritance of Human Genetic Disease

This quiz covers OCR Human Biology A-Level module F225's first section, Inheritance of Human Genetic Disease.

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1. What is a phenotype?

  • The position on a chromosome at which a particular gene lies.
  • A length of DNA which codes for the production of a particular polypeptide.
  • One of the different forms of a gene that occupy the same locus on a homologous chromosome.
  • A person's observable characteristics, resulting from an interaction between their genes and their environment.
  • The genetic make-up of an organism that describes all the alleles that the nucleus contains.
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2. What is the cause of cystic fibrosis?

  • Recessive gene mutation on chromosome 7.
  • Recessive gene mutation on chromosome 4.
  • Recessive gene mutation on chromosome 12
  • Autosomal dominant gene mutation on chromosome 7.
  • Autosomal dominant gene mutation on chromosome 4.

3. Which of the following genotypes would make the person's blood group A?

  • IB, IO
  • IA, IO
  • IA, IB
  • IO, IO
  • IB, IA

4. On a pedigree diagram, what does a shaded square mean?

  • Affected female.
  • Affected male.
  • Unaffected female.
  • Unaffected male.
  • Person of unknown gender.

5. Define translocation.

  • A piece of chromosome breaks off and is transferred to another chromosome.
  • A change in the number of chromosomes.
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