Final Q

Question 1

Define nutrigenomics

Answer 1

The study on how the genetic variations influence the effect of the nutrition and how the nutrition influences the gene expression

Question 2

How can we treat gene defects in the DNA using gene therapy methods?

Answer 2

Plasmid
Linear DNA (viral)
Artificial chromosome

Question 3

What is GWAS (Genome Wide Association Study)?

Answer 3

An observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait.
Typically focuses on associations between SNPs and traits like major human disease.

Question 4

What is the sample used in non-invasive prenatal tests?

Answer 4

Blood drawn from the mother (~10ml)

Question 5

What is studied in metagenmoics?

Answer 5

The genetics of organisms which are not easily cultured (e.g., our microbiome)

Question 6

Give 2 examples and associated genes of food which influence by epigenetic mechanism

Answer 6

1. Populations that rely heavily on high-starch induced more copies of AMY1 gene
2. Population that ate more lactose-containing foods had more copies of LCT gene

Question 7

Which 2 non-invasive prenatal test can be done?

Answer 7

Next Generation Sequencing (NGS)

Non-invasive Fetal Trisomy (NIFTY) test

Question 8

Which 3 methods can we use to study complex inheritance? (i.e., the environmental effects on genetics)

Answer 8

1. Familial studies (aggregation)
2. Twin studies
3. Adoption studies

Question 9

Which gene and genotype should supplement with higher dose of folate?

Answer 9

MTHFR C677T genotype (Ala222Val is the change)

Question 10

Give at least 3 examples of multifactorial (complex) disease

Answer 10

Diabetes, Asthma, Alzheimer, Autism, Allergy, Psychiatric disorders, Dyslexia

Question 11

Define gene therapy

Answer 11

Any intervention aimed to manipulate specific genes replacements, eradication, repair which affecting their expression

Question 12

Define pharmodynamics

Answer 12

Genetic variations, which are in the genes of the drug targets or in the associated pathways

Question 13

Which 2 genes are responsible for dose difference in individuals using Warfarin?

Answer 13

CYP2C9 and VKORC1

Question 14

Give 3 examples of diseases with high penetrance

Answer 14

Xeroderma pigmentosum
Phenylketonuria (PKU)
Familial hypercholesterolemia

Question 15

Which 3 tissues can be used in for pre-implantation genetic diagnosis / screening?

Answer 15

Polar body, Blastomere and Trophoectoderm

Question 16

List 4 Assisted Reproduction Techniques (ART)

Answer 16

In-Vitro Fertilization (IVF)
Embryo-Transfer (ET)
Gamete Intra-Fallopian Transfer (GIFT)
Intra-Cytoplasmic Sperm Injection (ICSI)

Question 17

Which gene is responsible for most of the drugs’ adverse effects?

Answer 17

CYP2D6

Question 18

List 4 viral vectors that can be used in gene therapy

Answer 18

Adenovirus
Adeno-associated virus
Retrovirus
Lentivirus

Question 19

In gametogenesis, which is the first gametes that is haploid? (in male or female)

Answer 19

Secondary spermatocyte or secondary oocyte

Question 20

List at least 3 molecular genetics methods used in PGS

Answer 20

Karyotyping with G-band - the gold standard
FISH
MLPA
aCGH (array Comparative Genomics Hybridization)
NGS (New Genome Sequencing)
QF-PCR (Quantitative Fluorescence)

Question 21

Give at least 5 characteristics of multifactorial (complex) diseases

Answer 21

Does not follow Mendelian laws
Many genes control a single trait
Genes determine a quantitative trait (shows continuous variation of the trait in the population)
Common in small families and have low penetrance
Environmental influences can increase or decrease the risk
More frequently in specific ethnic groups
Diseases occur more frequently in one gender, but it is not sex-linked / -limited

Question 22

Define pharmokinetics

Answer 22

Genetic variation, which influence the mechanism of absorption, distribution and elimination of drug in the body

Question 23

What is the purpose of Pre-implantation Genetic Screening?

Answer 23

Determine the karyotype to avoid transmission of genetic disease (i.e., numerical chromosomal aberrations)

Question 24

What is the purpose of Pre-implantation Genetic Diagnosis (PGD)?

Answer 24

Determine the genotype to avoid transmission of genetic disease (i.e., monogenic disease)

Question 25

Which RNAs can be used to treat gene defects in gene therapy methods?

Answer 25

Antisense RNA
Ribozyme
Silencing RNA (siRNA or shRNA)
microRNA (miRNA)
Aptamere

Question 26

Define Minor Allele Frequency (MAF)

Answer 26

the frequency at which the less (second most) common allele occurs in a given population.
By definition it is < 0.5 (5%).

Question 27

Give 3 examples of diseases with low penetrance

Answer 27

Alpha-1 Anti-trypsin deficiency
Factor V Leiden
Hereditary hemochromatosis

Question 28

Define idiosyncratic

Answer 28

Genetic variations in genes coding for proteins, which are not in the drug target or pharmacokinetic pathways, but could cause side effects

Question 29

What is heritability?

Answer 29

Is a statistic tool used in genetics, which estimates the degree of variation in a phenotype in a population that is due to genetic variation between individuals in that population