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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What is a phenotype?
A person's observable characteristics, resulting from an interaction between their genes and their environment.
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What is the cause of cystic fibrosis?
Recessive gene mutation on chromosome 7.
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On a pedigree diagram, what does a shaded square mean?
Affected male.
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Define translocation.
A piece of chromosome breaks off and is transferred to another chromosome.
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How would you identify, on a karyotype, a sufferer of regular trisomy 21 Down's Syndrome?
Extra chromosome 21
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What is a viable treatment for Klinefelter's Syndrome?
Testosterone treatment
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In Down's Syndrome, what percentage of cases are mosaic?
2
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When karyotyping, what is adedd to the cells at the start of metaphase, and why?
Colchinine, to inhibit spindle formation.
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Other cards in this set

Card 2

Front

What is the cause of cystic fibrosis?

Back

Recessive gene mutation on chromosome 7.

Card 3

Front

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

Back

Preview of the front of card 3

Card 4

Front

Define translocation.

Back

Preview of the front of card 4

Card 5

Front

How would you identify, on a karyotype, a sufferer of regular trisomy 21 Down's Syndrome?

Back

Preview of the front of card 5
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