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Molecular Biology & Medical Genetics > Week 4 > Flashcards

Week 4 Flashcards

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1
Q

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

A

Invasive Diagnostic Testing

Foetal Visualisation Techniques

Population Screening

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2
Q

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

A

Amniocentesis

Chorionic Villus Sampling

Percutaneous Umbilical blood sampling

Preimplantation Genetic Diagnosis

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3
Q

List three methods of foetal visualisation techniques:

A

Ultrasonography

Radiography

Magnetic Resonance Imaging

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4
Q

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

A

True positives + False Negatives

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5
Q

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

A

True negatives + False Positives

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6
Q

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

A

Tandem Mass Spectrometry

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7
Q

Sickle Cell disease

Tay-Sachs disease

Cystic Fibrosis

Phenylketonuria

These disease are detected by what type of screening?

A

Heterozygote screening

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8
Q

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

A

Linkage Analysis

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9
Q

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

A

Direct Mutation Analysis

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10
Q

A needle passed through the abdomen to collect samples for analysis

describes:

Chorionic Villus Sampling

or

Amniocentesis

A

Amniocentesis

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11
Q

Which sampling method will provide earlier analysis of foetal DNA:

Chorionic Villus Sampling

or

Amniocentesis?

A

Chorionic Villus Sampling

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12
Q

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

A

Maternal circulation

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13
Q

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

Down Syndrome or Open Spina-Bifida?

A

Down Syndrome

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14
Q

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

A

6 to 8 weeks post LMP

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15
Q

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

A

Dexamethasone

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16
Q

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

A

Mutations

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17
Q

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

A

Aldosterone, Cortisol

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18
Q

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

A

Phenylketonuria

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19
Q

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

A

Developmental delay

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20
Q

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

A

Galactosaemia

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21
Q

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

A

Leucine, Isoleucine, Valine

22
Q

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

A

G6PD deficiency

23
Q

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

A

G6PD deficiency

24
Q

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

A

CF

Cystic Fibrosis

25
Q

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

A

The consultand

26
Q

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

A

Somatic Cells

27
Q

Double stranded DNA is the mechanism of gene therapy in:

Adeno-Associated Vector

or

Adenovirus Vector?

A

Adenovirus vectors

28
Q

What is the mechanism of muscle wastage in Pompe disease?

A

Lysosomes are unable to break down glycogen

Swollen lysosomes disrupt muscle cell function

29
Q

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

A

17

30
Q

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

A

Adeno-associated virus

31
Q

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

A

Gain of function mutations

32
Q

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

A

Complex II

33
Q

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

A

Mother

34
Q

What are the two methods of mitochondrial replacement therapy?

A

Pronuclear Transfer

Maternal Spindle Transfer

35
Q

In mitochondrial replacement therapy, in which method is repair carried out before fertilisation?

Pronuclear Transfer

Maternal Spindle Transfer

A

Maternal Spindle Transfer

36
Q

In mitochondrial replacement therapy, in which method is repair carried out after fertilisation?

Pronuclear Transfer

Maternal Spindle Transfer

A

Pronuclear Transfer

37
Q

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

A

ATP synthase

38
Q

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

A

Substitution mutation

39
Q

RNA is probed by Northern or Southern blotting?

A

Northern

40
Q

DNA is probed by Northern or Southern blotting?

A

Southern

41
Q

Proteins are the subject of:

Southern Blotting

Western Blotting

Northern Blotting?

A

Western Blotting

42
Q

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

A

Single or double stranded breaks in DNA backbones

43
Q

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

A

Binding of adjacent Thymine bases to one another

44
Q

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

A

Nucleosome

45
Q

Adenine and Guanine are:

Purines

or

Pyramidines?

A

Purines

46
Q

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

A

Centromere

47
Q

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

A

DNA Repair

48
Q

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

A

17

49
Q

Hereditary non-polyposis colon cancer is also known as:

A

Leisch Nyhan syndrome

50
Q
A

Molecular Biology & Medical Genetics (5 decks)

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