Quickie Review Flashcards
What are the three types of Chromosome shapes?
Meta-centric, Submetacentric, acrocentric
Which stage in the cell life cycle? interval b/w mitosis and replication: Preparing to replicate
G1
When is G2 in the cell life cycle?
in-between S and mitosis
Which stage of mitosis? Chromosomes condense
Mitotic spindle/centrosomes begin to form
Prophase
Which stage of mitosis? Nuclear membrane disappears
Pro-metaphase
Which stage of mitosis? Chromosomes fully condensed, Chromosomes line up on metaphase plate, Spindle fibers begin to contract
Metaphase
Which stage of mitosis? Centromeres divide into two
Spindle fibers pull chromatids toward opposite sides of the cell (centromere first)
Anaphase
Which stage of mitosis? Cytokinesis (forms two identical daughter cells), Two nuclear membranes form,Spindle fibers disappear, Chromosomes decondense and return to interphase
Telophase
In female gamatogenesis, one egg and ____ polar bodies after fertilization.
2 polar bodies
In female gamatogenesis, one egg and ____ polar bodies W/O fertilization.
1 polar body
What is the average size of a gene?
14,000 bp
How many base pairs is 1cM?
1 million bp
How many codons in the genetic code?
64
How many Amino Acids have only 1 codon? What are they??
2!…….Tryptophan-UGG….Methionine (AUG)
What are the stop codons?
UAA, UAG, UGA
What is the main point of NeuroFibroMatosis type I?
It has high variability!
How can a female have an x-linked recessive disorder? What is the #1 reason?
Father has to have a recessive X and mom either affected or a carrier…..#1=SKEWED X INACTIVATION
What two genetic concepts are associated with Prader-Willi and Angelamn syndromes?
Non-Mandilian Inheritance and Imprinting
What is the most common mechanism that causes PWS? What about AS?
PWS: 70% have deletions in the PATERNAL 15th chromosome…AS: 68% have deletions in the MATERNAL 15th chromosome
What is the most efficient way for testing PWS and AS?
Methylation Analysis
What is Uniparental disomy? Which types of disorders does it imply?
Inheritance of 2 copies of a gene or chromosome from 1 parent…CF, PWS, and AS
What are the 4 components to a PCR reaction?
1.DNA Template 2.DNA Polymerase 3.Primers 4.Nucleotides
What makes up one cycle of PCR?
Denature, Anneal, Extend
