Matthew Coulson
Quiz by , created more than 1 year ago

Genetics I lecture given as a SURPRISE on the friday of week 2 :)))

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Matthew Coulson
Created by Matthew Coulson about 6 years ago
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Reproductive Genetics

Question 1 of 24

1

Match the genetic sampling technique to the tissue it detects:
Placenta -
Skin / Urine Cells -
Blood -

Drag and drop to complete the text.

    Chorionic Villus Biopsy
    Amniocentesis
    Fetal blood sampling

Explanation

Question 2 of 24

1

Match the genetic sampling technique to the point in pregnancy at which it can be conducted:
After 11.5 weeks:
After 16 weeks:
After 18 weeks:

Drag and drop to complete the text.

    Foetal Blood Sample
    Amniocentesis
    Chorionic Villus Biopsy

Explanation

Question 3 of 24

1

Select from the dropdown list to complete the text.

Non-Invasive Prenatal Testing involves taking a sample of ( blood, urine, hair, the placenta, the cervix ) from a mother to look for foetal DNA

Explanation

Question 4 of 24

1

Fill the blank space to complete the text.

When is the earliest in pregnancy that Non-Invasive Prenatal Testing can be conducted?
Weeks

Explanation

Question 5 of 24

1

Which two of the following genetic sampling methods involve a 1-2% risk of inducing miscarriage?

Select one or more of the following:

  • Chorionic Villus Biopsy

  • Amniocentesis

  • Foetal Blood Sample

  • Non-Invasive Prenatal Testing

Explanation

Question 6 of 24

1

Fill the blank space to complete the text.

Which term describes a genetic change that causes disease?

Explanation

Question 7 of 24

1

Fill the blank space to complete the text.

Which term describes a genetic change that does not necessarily predispose to a disease?

Explanation

Question 8 of 24

1

Fill the blank spaces to complete the text.

There are two main types of Polymorphisms present in humans - name them.
: Single base changes
: Insertions or deletions of DNA segments

Explanation

Question 9 of 24

3

Which three of the following genetic analysis techniques are used for whole genome sampling?

Select one or more of the following:

  • Array CGH

  • Foetal DNA in Maternal Blood

  • Point Mutation Testing

  • Fluorescence in-situ Hybridisation (FISH)

  • Quantitative Fluorescent PCR

  • Next Generation Sequencing

Explanation

Question 10 of 24

3

Which three of the following genetic sequencing techniques are used for targeted genetic sequencing?

Select one or more of the following:

  • Array CGH

  • Foetal DNA in Maternal Blood

  • Next Generation Sequencing

  • Fluorescence in-situ Hybridisation (FISH)

  • Quantitative Fluorescent PCR

  • Point Mutation Testing

Explanation

Question 11 of 24

1

Fill the blank spaces to complete the text.

Foetal Ultrasound scans are typically carried out first at weeks then again at weeks to check for any foetal abnormalities

Explanation

Question 12 of 24

1

Fill the blank space to complete the text.

Which measurement made on foetal ultrasound scanning is used to assess whether the child is likely to have abnormalities such as down's syndrome?
Thickness

Explanation

Question 13 of 24

1

Select from the dropdown list to complete the text.

The nuchal thickness is thought to be abnormal if it is above ( 6, 10, 14 )mm

Explanation

Question 14 of 24

1

Fill the blank space to complete the text.

At around 16 weeks a maternal test is conducted to look for biochemical markers of Down Syndrome

Explanation

Question 15 of 24

1

Which Genetic Sequencing Test is used to detect extra or missing chromosomes and is thus most useful in detecting Down Syndrome in a foetus with nuchal thickening?

Select one of the following:

  • Array CGH

  • Next Generation Sequencing

  • Foetal DNA in Maternal Blood

  • Fluorescent In-Situ Hybridisation (FISH)

  • Quantitative Fluorescent PCR

  • Point Mutation Testing

Explanation

Question 16 of 24

1

Apart from Array CGH, which of the following genetic sequencing tests is also useful in detecting Down Syndrome?

Select one of the following:

  • Next Generation Sequencing

  • Foetal DNA in Maternal Blood

  • Fluorescent In-Situ Hybridisation

  • Quantitative Fluorescent PCR

  • Point Mutation Testing

Explanation

Question 17 of 24

1

Chorionic Villus Biopsy and Amniocentesis can both be used to detect a wide range of foetal abnormalities whereas generally Non-Invasive Prenatal Testing is only used to detect Down Syndrome

Select one of the following:

  • True
  • False

Explanation

Question 18 of 24

1

Fill the blank space to complete the text.

Mrs Blue comes to see you. She is 18 weeks pregnant. A detailed scan has shown that her baby has a cardiac defect: an AtrioVentricular Septal Defect that is commonly seen in Down syndrome.
What is the best first egentic sequencing test?

Explanation

Question 19 of 24

1

Fill the blank space to complete the text.

Two acrocentric chromosomes stuck end to end is known as a Translocation

Explanation

Question 20 of 24

1

Non-Invasive Prenatal Testing can also be used to determine the sex of the foetus

Select one of the following:

  • True
  • False

Explanation

Question 21 of 24

1

Chromosomal Rearrangement: All of the chromosomal material is present
Chromosomal Rearrangement: Extra or missing chromosomal material

Drag and drop to complete the text.

    Unbalanced
    Balanced

Explanation

Question 22 of 24

1

Unbalanced Chromosomal Rearrangement are better than balanced ones

Select one of the following:

  • True
  • False

Explanation

Question 23 of 24

1

Fill the blank space to complete the text.

What is the term given to describe the presence of an abnormal number of chromosomes in a cell? For example, a human cell having 45 or 47 chromosomes instead of the usual 46.

Explanation

Question 24 of 24

1

Array CGH only detects balanced translocations

Select one of the following:

  • True
  • False

Explanation

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