Eukaryotic enzyme complex that binds to the initiator tRNA
What is eIF-2-GTP
100
Term that refers to the retention of methylation known to occur in about 50 human genes.
What is genetic imprinting
100
Small 76-AA protein that is used to tag proteins for destruction.
What is ubiquitin
100
Abnormality of chromosome number, also the most common type of chromosome disorder
What is aneuploidy?
100
Relationship that results from common ancestry, increasing the chance that both parents are carriers of the same mutant allele form a common ancestor.
What is consanguinity
200
Sequence that functions as a binding site for the bacterial 16S ribosomal subunit.
What is the Shine-Dalgarno sequence?
200
Histone modification that opens up chromatin structure
What is histone acetylation
200
Names of E1, E2 and E3, the three ubiquitin-attaching enzymes.
What is E1 (Ubiquitin activating enzyme), E2 (ubiquitin conjugating enzyme), E3 (ubiquitin ligase)
200
The six phenotypes characteristic of Angelman Syndrome
What are wide stance, position of arms, short stature, mental retardation, spasticity, and seizures?
200
Related to autosomal dominant inheritance, it is the term that describes when a single normal copy produces an insufficient quantity of the normal gene product
Haploinsufficiency
300
The STOP codons.
What is UAA, UAG, UGA?
300
Transcription factor dimer that promotes gene transcription
What is Myc/Max
300
Binds to miRNAs (double stranded) to create a complex of proteins called RISC
What are argonaute and other proteins
300
The three viable trisomies (give names and chromosome #s)
What is trisomy 13 (Pautau syndrome), 18 (Edward), 21 (Down)
300
In this type of inheritance, affected mothers have a 50% chance of transmitting the disorder to sons and daughters, and affected fathers always have affected daughters but no affected sons.
What is X-linked dominant
400
3 Rules of the Genetic Code
What is universal, degenerate, and having additional functions (start, stop codons)
400
These sites contained in regulatory proteins bind to acetylated lysines in histones
What are bromodomains?
400
Two factors that characterize inefficient mRNA transcripts in eukaryotic cells.
What are long 5'-UTRs with extensive secondary structures and AUG codons upstream of translation start site.
400
The effect on the number of paternal and maternal chromosomes in gametes when there is a meiotic nondisjuction in Meiosis II.
What is meiotic two cells with one maternal/paternal, one cell with two maternal/paternal, and one cell with nothing.
400
Two-word term that describes when there is a mutation that affects (part of) germ cells resulting in severe effects on the offspring. However, the parents maybe not be affected
What is germline mosaicism
500
Inhibitor of protein synthesis that acts through molecular mimicry
What is Puromycin?
500
Four types of epigenetic mechanisms
What is positive feedback TF loop, DNA methylation, histone acetylation/deacetylation, and histone phosphorylation and methylation
500
Protein that attaches to the 5' end of mRNA and degrades the 3' poly-A tail.
What is deadenylase
500
30% of patients with Prader-Willi syndrome and 5% of patients with Angelman syndrome are not caused by a deletion or mutation in the gene, but by this two-word term.
What is uniparental disomy
500
Two word term that refers to genotype with 2 different mutant alleles at one locus