Mitosis and Meiosis, Chromosomes and Karyotypes Flashcards
Homolog
Chromosome similar in size and sequence
Somatic cells vs. germ
Diploid vs haploid
46 vs 23
What accounts for normal genome variation
SNP - most common
Indels
Microsatellites
CNV
Gene duplication possiblities
Degradation —- loss
Neofunctionalization - New function
Subfunctionalization - different function
Arms of chromosome
P - short
Q - long
Area betwen P and q arm
Centromere
Composition of chromosome
DNA and protein
How to do a karyotype?
Giesma stained
Arrange by size with homologs next to each other
Large scale can be visualized
Philidelphia chromosome disease and numbers
9 and 22
Chronic myelogenous leukemia (also ALL and AML)
Phildelphia chromosome mutation that occurs
Translocation
ABL moves from 9 to 22
BCR and ABL now next to each other on 22
Tx for CML
Gleevac - ABL inhibitor
ABL function
Cell proliferation
ABL name and structure
Abelson murine leukemia virus homolong 1 (tyrosine kinase)
BCR
Breakpoint cluster region
Mechanism of ABL/BCR mutation
Promotor from BCR will drive constant expression of ABL
Burkitt’s lymphoma mutation
IGH-MYC fusion
Increased MYC activity
Only exons 2 and 3 from MYC make it
MYC and IGH chromosomes
8 and 14
IGH function
Expressed all the time in B-cells