Genomics Quiz #1 Terminology NOT DONE

PGx

Pharmacogenomics

SNPs

Single Nucleotide Polymorphism. DNA sequence differs by a single nucleotide.

Transposition

Removal & transfer of a segment of DNA from one site to another of the same or different chromosome.

GWAS

Genome Wide Association Studies

SAEC

Serious Adverse Effects Consortium

INDELs

Insertion-Deletions. DNA sequence differs by and insertion/deletion of a single/multiple nucleotides.

CNVs

Copy Number Variations. Gene duplication; a single gene may occur multiple times of the same or different chromosomes.

STRs

Short-Tandem Repeats. Short sequences repeated multiple times over.

BAC

Bacterial Artificial Chromosome

VNTRs

Variable-Number Tandem Repeats. Other regions of the genome contain repeats with variable number of repetitions.

Genome

All the genetic material of an organism. Including material that encodes proteins, Functional RNA, and non-coding DNA sequences.

Genetic Variation

Differences between corresponding genomic sequences of individuals or populations.

Gene Promoters

May be “Housekeeping”, “Tissue Specific”, or “Inducible”. A single gene may have multiple promoters.

Reasons for Mutations (5)

1. Errors during duplication

2. Radiation

3. Chemical Mutagens

4. Methylation/Deamination

5. Inefficient DNA repair enzymes

Somatic vs. Germinal Mutations

Somatic: Not transmitted to progeny

Germinal: Passed on to offspring

HGNC

HUGO Gene Nomenclature Committee

DNA Polymerase

Primer

Sanger Sequencing

Pyrosequencing

Sequencing by Synthesis

NGS Next Generation Sequencing

Phenotype

Genotype

Linked Genes

Genetic Map Distance

centiMorgans (cM)

Corresponds to the % chance of a chromosomal recombination

Genomic Analysis

Come

Transcriptomes

Epigenomes

FDA Medical Devices Classification

Class I

Class II

Class III

FDA oversight of medical devices

FDA cleared

FDA approved

510(k) exempt (Most Class I Devices)

Stigmatization

Federal Law: GINA

Genetic Information Non-discrimination Act (GINA) (2008)

• Prohibits genetic discrimination in health insurance/employment

Risks of PGx research: (3)

Physical Risk: associated w/ ADRs or Non-Effective Medications

Time-Delay in initiating treatment.

Psychological Risks: Being excluded from a treatment option, not being offered a treatment

Informed Consent

Patient should be informed about risks/benefits of participation in medical treatment, procedure, or experimental intervention.

Patient must also understand what is being explained.

Patent

license granted by government conferring the temporary right to exclude others from making, using, or selling an intervention