Genetics

Question 1

What technique is used to produce a visible karyotype?

Answer 1

Giemsa Staining

Question 2

What is Haploinsufficiency?

Answer 2

A dominant phenotype in diploid organisms that are heterozygous for a loss-of-function allele

Question 3

What is Haplosufficiency?

Answer 3

A single allele of a functional gene is enough to maintain normal function

Question 4

How is genomic imprinting achieved?

Answer 4

DNA Methylation

Question 5

Where does most trisomy 21 arise in?

Answer 5

Maternal non-disjunction

Question 6

Where does most trisomy 21 arise in?

Answer 6

Maternal non-disjunction

Question 7

What does SNP stand for?

Answer 7

Single Nucleotide Polymorphism

Question 8

What are SNPs?

Answer 8

DNA sequence variations that occur when a single nucleotide is changed

Question 9

What is Pharmacogenetics?

Answer 9

Study of variability in drug response due to genetic differences

Question 10

What does the Nuchal Translucency test measure?

Answer 10

The thickness of fluid at the back of the foetal neck

Question 11

What does sexing test for?

Answer 11

Detect SRY gene on the Y chromosome?

Question 12

What prenatal non-invasive testing methods are there?

Answer 12

1. Maternal Serum Screening

2. Cell-free foetal DNA (cffDNA)

Question 13

What prenatal invasive testing methods are there?

Answer 13

1. Amniocentesis

2. Chorionic Villus Sampling (CVS)

Question 14

What does PGD stand for?

Answer 14

Pre-implantation Genetic Diagnosis

Question 15

What is Phenylketonuria (PKU)?

Answer 15

Results in the decreased metabolism of the amino acid phenylaline

Question 16

What gene therapy is required for a recessive disease?

Answer 16

Replace defective gene

Question 17

What gene therapy is required for a dominant disease?

Answer 17

Delete defective gene

Question 18

What is a non-sense mutation?

Answer 18

1. A stop codon is inserted into the middle of the gene
2. Preventing complete readthrough of instructions
3. So resulting in an incomplete protein