Final Q Flashcards
Questions for Final / Competition
Define nutrigenomics
The study on how the genetic variations influence the effect of the nutrition and how the nutrition influences the gene expression
How can we treat gene defects in the DNA using gene therapy methods?
Plasmid
Linear DNA (viral)
Artificial chromosome
What is GWAS (Genome Wide Association Study)?
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.
What is the sample used in non-invasive prenatal tests?
Blood drawn from the mother (~10ml)
What is studied in metagenmoics?
The genetics of organisms which are not easily cultured (e.g., our microbiome)
Give 2 examples and associated genes of food which influence by epigenetic mechanism
- Populations that rely heavily on high-starch induced more copies of AMY1 gene
- Population that ate more lactose-containing foods had more copies of LCT gene
Which 2 non-invasive prenatal test can be done?
Next Generation Sequencing (NGS)
Non-invasive Fetal Trisomy (NIFTY) test
Which 3 methods can we use to study complex inheritance? (i.e., the environmental effects on genetics)
- Familial studies (aggregation)
- Twin studies
- Adoption studies
Which gene and genotype should supplement with higher dose of folate?
MTHFR C677T genotype (Ala222Val is the change)
Give at least 3 examples of multifactorial (complex) disease
Diabetes, Asthma, Alzheimer, Autism, Allergy, Psychiatric disorders, Dyslexia
Define gene therapy
Any intervention aimed to manipulate specific genes replacements, eradication, repair which affecting their expression
Define pharmodynamics
Genetic variations, which are in the genes of the drug targets or in the associated pathways
Which 2 genes are responsible for dose difference in individuals using Warfarin?
CYP2C9 and VKORC1
Give 3 examples of diseases with high penetrance
Xeroderma pigmentosum
Phenylketonuria (PKU)
Familial hypercholesterolemia
Which 3 tissues can be used in for pre-implantation genetic diagnosis / screening?
Polar body, Blastomere and Trophoectoderm
List 4 Assisted Reproduction Techniques (ART)
In-Vitro Fertilization (IVF)
Embryo-Transfer (ET)
Gamete Intra-Fallopian Transfer (GIFT)
Intra-Cytoplasmic Sperm Injection (ICSI)
Which gene is responsible for most of the drugs’ adverse effects?
CYP2D6
List 4 viral vectors that can be used in gene therapy
Adenovirus
Adeno-associated virus
Retrovirus
Lentivirus
In gametogenesis, which is the first gametes that is haploid? (in male or female)
Secondary spermatocyte or secondary oocyte
List at least 3 molecular genetics methods used in PGS
Karyotyping with G-band - the gold standard
FISH
MLPA
aCGH (array Comparative Genomics Hybridization)
NGS (New Genome Sequencing)
QF-PCR (Quantitative Fluorescence)
Give at least 5 characteristics of multifactorial (complex) diseases
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
Define pharmokinetics
Genetic variation, which influence the mechanism of absorption, distribution and elimination of drug in the body
What is the purpose of Pre-implantation Genetic Screening?
Determine the karyotype to avoid transmission of genetic disease (i.e., numerical chromosomal aberrations)
What is the purpose of Pre-implantation Genetic Diagnosis (PGD)?
Determine the genotype to avoid transmission of genetic disease (i.e., monogenic disease)
Which RNAs can be used to treat gene defects in gene therapy methods?
Antisense RNA Ribozyme Silencing RNA (siRNA or shRNA) microRNA (miRNA) Aptamere
Define Minor Allele Frequency (MAF)
the frequency at which the less (second most) common allele occurs in a given population.
By definition it is < 0.5 (5%).
Give 3 examples of diseases with low penetrance
Alpha-1 Anti-trypsin deficiency
Factor V Leiden
Hereditary hemochromatosis
Define idiosyncratic
Genetic variations in genes coding for proteins, which are not in the drug target or pharmacokinetic pathways, but could cause side effects
What is heritability?
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
