Great Big Biomedical Science Quiz - Genomics and Molecular Pathology

1 To the nearest 1000, how many genes are there in the human genome?

2 Who developed the dideoxy-method for sequencing DNA?

3 Why was the discovery of Thermus aquaticus so important?

4 How does FISH hybridisation work?

5 Which oncogene is most commonly identiJied in human tumours?

6 What is the hallmark translocation of chronic myeloid leukaemia?

7 According to the International Standard of Cytogenetic Nomenclature, what do we mean by 15p12.2?

8 How has next generation sequencing revolutionised healthcare?




Answers below:

1 To the nearest 1000, how many genes are there in the human genome?
Approximately 20,000 (number is debatable).

2 Who developed the dideoxy-method for sequencing DNA?
Fred Sanger and colleagues

3 Why was the discovery of Thermus aquaticus so important?
Isolation of thermostable Taq polymerase. Enabled PCR to used within the mainstream for research, clinical testing and application.

4 How does FISH hybridisation work?
Short section of target DNA linked to a `luorescence molecule searches for its complementary section in a sample of DNA from an individual presumed to carry a particular abnormality.

5 Which oncogene is most commonly identiJied in human tumours?
KRAS

6 What is the hallmark translocation of chronic myeloid leukaemia?
BCR::ABL1 t(9;22)(q34;q11)

7 According to the International Standard of Cytogenetic Nomenclature, what do we mean by 15p12.2?
This describes locus 12.2 on the short (p) arm on chromosome 15

8 How has next generation sequencing revolutionised healthcare?
Enables us to look at a large number of genes at one time (rather than single genes). Era of personalized medicine i.e. can examine the entire genome to identify rare and inherited diseases; sequence a large number of genes to look for multiple potential therapeutic targets simultaneously in cancer patients.