Week 4

Question 1

What are the three classes of prenatal diagnosis of genetic disorders?

Answer 1

Invasive Diagnostic Testing

Foetal Visualisation Techniques

Population Screening

Question 2

List four types of invasive prenatal diagnostic methods for genetic disorders:

Answer 2

Amniocentesis

Chorionic Villus Sampling

Percutaneous Umbilical blood sampling

Preimplantation Genetic Diagnosis

Question 3

List three methods of foetal visualisation techniques:

Answer 3

Ultrasonography

Radiography

Magnetic Resonance Imaging

Question 4

Sensitivity is given as a function of true positives, divided by:

Answer 4

True positives + False Negatives

Question 5

Specificity is given as a function of True negatives, divided by:

Answer 5

True negatives + False Positives

Question 6

What type of newborn screening test is used to detect protein variants that signal amino acid disorders?

Answer 6

Tandem Mass Spectrometry

Question 7

Sickle Cell disease

Tay-Sachs disease

Cystic Fibrosis

Phenylketonuria

These disease are detected by what type of screening?

Answer 7

Heterozygote screening

Question 8

DNA Polymorphisms such as SNPs or STRs can be used as markers in what type of diagnostic tests?

Answer 8

Linkage Analysis

Question 9

Which molecular screening tool is the most commonly used tool for genetic diagnosis?

Answer 9

Direct Mutation Analysis

Question 10

A needle passed through the abdomen to collect samples for analysis

describes:

Chorionic Villus Sampling

or

Amniocentesis

Answer 10

Amniocentesis

Question 11

Which sampling method will provide earlier analysis of foetal DNA:

Chorionic Villus Sampling

or

Amniocentesis?

Answer 11

Chorionic Villus Sampling

Question 12

NIPS, Non-invasive Prenatal Screening, draws DNA samples from where?

Answer 12

Maternal circulation

Question 13

Maternal foetal protein will peak lower than the normal value in a test indicative of:

Down Syndrome or Open Spina-Bifida?

Answer 13

Down Syndrome

Question 14

How early can foetal DNA be detected in the maternal circulation?

Answer 14

6 to 8 weeks post LMP

Question 15

Prenatal diagnostic analysis of blastomeres indicates Aongenital Adrenal Hyperplasia, which drug is administed to the mother to prevent masculinisation of a female foetus?

Answer 15

Dexamethasone

Question 16

Does genetic testing reveal mutations, or the presence of disease?

Answer 16

Mutations

Question 17

in CAH, 21-Hydroxylase deficiency results in a patient unable to produce which two hormones?

Answer 17

Aldosterone, Cortisol

Question 18

Specialised E.Coli bacteria deprived of phenylalanine are used in a petrie dish alongside blood samples to detect what disorder?

Answer 18

Phenylketonuria

Question 19

The physical signs of Phenylketonuria are subtle, and mainly present as:

Answer 19

Developmental delay

Question 20

What is the most common single-gene mutation disorder of carbohydrate metabolism?

Answer 20

Galactosaemia

Question 21

Which amino acids are unable to be metabolised in maple syrup urine disease?

Answer 21

Leucine, Isoleucine, Valine

Question 22

which X-linked recessive disease more common in African American males and linked with protection against malaria results in breakdown of red blood cells?

Answer 22

G6PD deficiency

Question 23

Which genetic disease is linked to eating fava beans and some oxidative drugs?

Answer 23

G6PD deficiency

Question 24

IRT, Immunoreactive Trypsinogen, is the subject of a diagnostic test for what genetic disease?

Answer 24

CF

Cystic Fibrosis

Question 25

The person about who's future offspring the genetic analysis refers, is known as:

Answer 25

The consultand

Question 26

At the present time, what are the only targets of **Gene Therapy**?

Answer 26

Somatic Cells

Question 27

Double stranded DNA is the mechanism of gene therapy in: Adeno-Associated Vector or Adenovirus Vector?

Answer 27

Adenovirus vectors

Question 28

What is the mechanism of muscle wastage in Pompe disease?

Answer 28

Lysosomes are unable to break down glycogen Swollen lysosomes disrupt muscle cell function

Question 29

On what chromosome is the gene *GAA* encoded, which is responsible for the lysosomal breakdown of glycogen in muscle cells?

Answer 29

17

Question 30

Transduction of non-dividing cells in gene therapy requires what vector?

Answer 30

Adeno-associated virus

Question 31

Gene therapy with **antisense oligonucleotides** corrects for what type of mutations?

Answer 31

Gain of function mutations

Question 32

Which complex of the electron transport chain does not utilise mitochondrial DNA for its synthesis?

Answer 32

Complex II

Question 33

Are mitochondrial diseases inherited from the mother, father, or either parent?

Answer 33

Mother

Question 34

What are the two methods of **mitochondrial replacement therapy**?

Answer 34

Pronuclear Transfer Maternal Spindle Transfer

Question 35

In **mitochondrial replacement therapy**, in which method is repair carried out **before fertilisation**? Pronuclear Transfer Maternal Spindle Transfer

Answer 35

Maternal Spindle Transfer

Question 36

In **mitochondrial replacement therapy**, in which method is repair carried out after fertilisation? Pronuclear Transfer Maternal Spindle Transfer

Answer 36

Pronuclear Transfer

Question 37

in MILS (Maternally-inherited Leigh Syndrome) what is encoded by the affected gene, MT-ATP6?

Answer 37

ATP synthase

Question 38

In MILS, what type of error occurs with the gene MT-ATP6 which encodes the ATP synthase complex?

Answer 38

Substitution mutation

Question 39

RNA is probed by Northern or Southern blotting?

Answer 39

Northern

Question 40

DNA is probed by Northern or Southern blotting?

Answer 40

Southern

Question 41

**Proteins** are the subject of: Southern Blotting Western Blotting Northern Blotting?

Answer 41

Western Blotting

Question 42

**Ionising** radiation may have the following effect on DNA: Single or double stranded breaks in DNA backbones *or* Binding of adjacent Thymine bases to one another

Answer 42

Single or double stranded breaks in DNA backbones

Question 43

**Non-ionising** radiation may have the following effect on DNA: Single or double stranded breaks in DNA backbones *or* Binding of adjacent Thymine bases to one another

Answer 43

Binding of adjacent Thymine bases to one another

Question 44

The subunit formed by DNA wrapped around eight histones is known as a:

Answer 44

Nucleosome

Question 45

Adenine and Guanine are: Purines or Pyramidines?

Answer 45

Purines

Question 46

Pairs of sister chromatids are joined by a special DNA sequence known as a:

Answer 46

Centromere

Question 47

the BRCA1 and BRCA2 genes associated with cancer of the breasts encodes proteins with what funciton?

Answer 47

DNA Repair

Question 48

On which chromosome is the locus of the genes involved in IGHD Dwarfism?

Answer 48

17

Question 49

Hereditary non-polyposis colon cancer is also known as:

Answer 49

Leisch Nyhan syndrome