Unit 2: Basic Genetics Flashcards
What are the principles involved in population genetics?
Mendel’s laws of inheritance
Hardy-Weinberg principle
inheritance patterns
What is an amorph
a silent gene that doesn’t have a detectable antigen
What does a phenotype include?
an enzyme to control a blood group antigen
the length of long bones of the skeleton
What are the physical traits due to?
elementen
Describe Mendel’s First Law…
Independent segregation
each gene is passed on to the next generation on its own
Describe Mendel’s Second Law…
Law of Independent Assortment
genes for different traits are inherited separately from each other
What are the exceptions to Mendel’s Law…
if genes for separate traits are closely linked on a chromosome, they can be inherited as a single unit
Recombination during meiosis affects gene ratios of F1 progeny
If DNA strands are broken and there is an exchange of chromosomal material
What are the criteria for use of the Hardy-Weinberg principle?
large populations
random mating
no mutations
no migration, differential fertility or mortality of genotypes
What is pedigree?
the trait to be studied
What is the propositus?
the most interesting member of the pedigree whose condition led to investigation of hereditary disorder or serologic evaluation
Autosomal dominant traits are routinely encountered in…
blood bank
What is an example of X-linked recessive inheritance?
Hemophilia A
What is chromatin?
genetic material important for replication
Describe the type of chromatin…
Heterochromatin (dark bands)
Achromatin (light bands, not transcriptionally active, highly condensed)
Euchromatin (light bands, more active in RNA, swollen chromatin, synthesis)
What is the role of histones?
to help maintain the chromosome shape
What is the role of nonhistones?
to control the activity of a certain region of DNA
When are genes italicized?
when describing genetic inheritance
Name the stages of the cell cycle?
resting stage (G0)
Pre-replication stage (G1) - produce RNA, synthesize protein
S stage DNA synthesis
Post-replication (G2) - (GAP) Produce protein, synthesize RNA
M phase - mitosis
Name the stages of Mitosis…
Interphase - condensed chromatin Prophase - chromosomes form Metaphase - chromosomes align Anaphase - spindle apparatus Telophase - division
Name the stages with haploid # of meiosis…
Interphase 2N Prophase I 4N *crossing over* Metaphase I 4N Anaphase I 4N Telophase I 2N Metaphase II 2N Anaphase II N Telophase II N
Nitrogenous base pairs are stabilized by…
hydrogen bonding and Van der waals forces
What year was is discovered that genes were composed of DNA?
1940
Who discovered the double helix?
Watson and crick
What enzyme opens the DNA supercoils?
DNA gyrase
Which enzyme separates the two strands of duplex DNA?
DNA helicase
Which enzyme synthesizes a new strand in the leading strand and is a proof reader?
DNA polymerase III
Which proteins interact with the open strands of DNA to prevent hydrogen bonding?
Single-stranded binding proteins
What are primers?
short oligonucleotide (RNA) pieces needed to bind to the beginning of the region to be replicated
What are the two fragments that joins together Okazaki fragments?
DNA polymerase I
DNA ligase
Which enzyme joins the phosphodiester bonds of the DNA backbone?
DNA ligase
Which enzyme recoils the DNA?
Isomerase
What are the major DNA repair systems?
photo reactivation excision repair recombination repair mismatch repair SOS repair
What enzymes are produced to cleave thymine bases exposed to UV radiation?
photoreactivation enzymes
What is the most abundant RNA?
rRNA
What transcribes rRNA?
RNA polymerase I
What does RNA polymerase II transcribe?
mRNA
What brings amino acid to the mRNA?
tRNA
What are the bonds in tRNA?
hydrogen bonding
What is the process of DNA -> RNA
transcription
What process is copied 3’-5’?
Transcription
What is the binding enzyme in transcription?
RNA polymerase II
What are the sequences in the promoter region?
CAAT box
TATA box
What is the purpose of the promoter region?
to position RNA polymerase so transcription starts correctly
What affects transcription rates?
enhancers region
Where does translation begin?
the endoplasmic reticulum (ribosomes)
What are the stop codons?
UAA
UGA
UAG
What are the three major steps in translation?
initiation
elongation
termination
