Med Gen Intro Flashcards
(22 cards)
How many chromosomes? genes?
Chromosomes – 23 pairs (46)
Genes – 20-30,000
What is ELSI
Ethical, Legal, and Social Implications
group that evaluated humanities duing human genome project
Four ethical principles identified by ELSI
Respect for Individual Autonomy
Beneficence
Non-Maleficence
Justice
Two types of predictive genetic testing
Presymptomatic
Susceptibility testing
Difference between Carrier testing and carrier screening
Testing – known family history
Screening – No history
What is GINA?
Genetic Information Nondiscrimination Act
Prihibits imporper use of genetic information in health insurance and employment
DNA is generated in a _____ direction
5–>3
A nucleosome is…
histone octamer + approx 200 bp
About how many base pairs in the genome
3x10^9
Two examples of repetitive sequences
Alu and L1
Describe DNA–>Protein
- RNA is transcribed from the 3–>5 DNA (antisense) strand
- Introns looped out
- Ribosomes bind at 5’ of mature RNA, translation
- Protein Assembly
What does it mean when I say the genetic code is degenerate and not ambiguous.
Degenerate – AA can be specified by more than one codon
Not ambiguous – specific codon gives only one AA
What is the sequence seen around introns?
GT-AG
How to distinguish a polymorphism from a rare variant
Poly is 1+%, Rare variant is less than 1% of population
Difference between genes and alleles?
Gene = Unit of inheritance/heredity Alleles = Alternate versions of a gene
Parts of a normal cell cycle
G1, S, G2, M (P, ProM, M, A, T)
What happens in the two divisions of Mitosis
1st – Homologous chromosomes pair and split
2nd - Sister chromatids separate
Two genes physically close to eachother are more likely to show…
genetic linkage
Spermatogenesis takes about..
64 days
What is the Dictyotene phase?
Where eggs stop in prophase and wait for maturity
When is the egg’s 2nd prophase triggered
After fertilization
What is a proband
Point of origin in a genetic study
