Chapter 3 Self-test questions

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. Which of the following statements best describes the applications of molecular genetic tests in medicine?

Tests are used to diagnose monogenic disease. correct incorrect

Tests are used to select the best dose of medicine to use for individual patients. correct incorrect

Tests are used to screen newborn children for treatable conditions. correct incorrect

Genetic tests are used for many clinical applications, including diagnostic testing; for personalized medicine (pharmacogenetics); and for newborn screening. correct incorrect

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. Double stranded DNA can be denatured/melted at high temperatures. Which of the following sequences could be predicted to have the highest melting temperature?

ATTTCTTAGAT
TAAAGAATCTA correct incorrect

AGCCCTTAGCT
TCGGGAATCGA correct incorrect

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. Which technique can be described as in vitro cloning?

Fluorescence in situ Hybridisation (FISH) correct incorrect

Polymerase Chain Reaction (PCR) correct incorrect

Southern Blotting correct incorrect

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. Which is the best technique to use to visualise a chromosome translocation event or aneuploidy using microscopy?

Fluorescence in situ Hybridisation (FISH) correct incorrect

Polymerase Chain Reaction correct incorrect

Southern Blotting correct incorrect

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. Which of the following statements about whole exome sequencing (WES) is correct?

The whole 3 billion-base pair human genome is analysed. correct incorrect

Approximately 30 million-base pairs of the genome is analysed, which corresponds to the (protein) coding DNA. correct incorrect

It can be used to detect all variants including copy number variants and large structural variants. correct incorrect

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. Which of the following genetic tests is incorrectly paired with the condition under investigation?

Non-invasive Prenatal Testing for detection of serious aneuploidies correct incorrect

Whole Exome Sequencing for detection of balanced chromosomal translocations correct incorrect

CGH Array or whole exome sequencing for developmental delay disorder correct incorrect

Next Generation Sequencing panel for complex epilepsy correct incorrect

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. Next-generation sequencing can be used to compare a tumour DNA sequence with DNA from a paired blood sample. This strategy can be used to identify personalised treatment targets in cancer patients.

True correct incorrect

False correct incorrect

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. Prenatal testing for all genetic abnormalities depends on invasive tissue sampling such as amniocentesis and chorionic villus sampling.

True correct incorrect

False correct incorrect