Chapter 5 Self-test questions

* not completed

. Which of these options is the best description of a polygenic risk score?

It is a single test that indicates an individual's risk of many different genetic diseases correct incorrect

It is a reliable test to diagnose a disease. correct incorrect

It predicts an individual's risk of having one particular disease or phenotype based on analysis of many contributory genetic markers correct incorrect

It is a research study where many different people have been given genetic biomarker tests correct incorrect

* not completed

. Which of the following statements best describes the cause of Hereditary Haemochromatosis?

It is caused by excess iron absorption. correct incorrect

It results in excessive colouration of the blood. correct incorrect

It is caused by inability to absorb iron. correct incorrect

It is caused by a mutation that prevents excretion of excess iron. correct incorrect

* not completed

. Which of the following statements is true for an individual with familial adenomatous polyposis (FAP)?

Every cell in the body will have 2 APC mutations. correct incorrect

A colon tumour cell is likely to have one normal and one mutated APC gene. correct incorrect

An additional somatic APC mutation is needed to cause the phenotype for a person who inherits an APC deletion. correct incorrect

The risk of cancer is not increased by mutagenic chemicals. correct incorrect

* not completed

. Which of the following statements is true for a mutation with low penetrance?

It is rare in the population correct incorrect

It may or may not result in the associated phenotype. correct incorrect

It is unlikely to be passed on to any children. correct incorrect

It does not cause a serious disease. correct incorrect

* not completed

. Which of the following statements is true for gene editing using CRISPR cas9 technology?

It uses a recombinase first discovered in fungi correct incorrect

It could never be used in humans correct incorrect

It allows any known DNA sequence to be targeted correct incorrect

It would only be effective to correct dominant genetic changes correct incorrect

* not completed

. Which of the following statements is true about an individual with two HFE p.C282Y mutations

The individual is unlikely to survive to middle age without treatment correct incorrect

The individual might never need any treatment correct incorrect

The individual must have parents affected by haemochromatosis correct incorrect

The individual could never suffer from iron deficiency anaemia correct incorrect

* not completed

. Which of the following statements is true about human height?

Height can be accurately predicted by DNA analysis correct incorrect

It is always the same in twins correct incorrect

The height of an individual is related to diet and is not affected by genetic factors correct incorrect

The height of an individual is affected by environmental factors and hundreds of gene variants. correct incorrect

* not completed

. Hereditary haemochromatosis is an autosomal recessive condition caused by a deletion mutation at nucleotide position 845 in the HFE gene.

True correct incorrect

False correct incorrect