Exam 3 Flashcards
3 categories of chromosome mutations
- chromosome rearrangements
- aneuploidy
- polyploidy
aneuploidy
- number if chromosomes is altered such that one or more are added or deleted
- changes number of INDIVIDUAL chromosomes in a set
- ex. 2n+1, 2n-1, 2n+2, 2n-2
polyploidy
- one or more complete sets of chromosomes are added
- 2n+n=3n, 3n, 4n
chromosome rearrangements
-structure of chromosome is altered in some way
-4 basic types:
~deletions
~duplications
~inversions
~translocations
deletions
- worst chromosome rearrangement, usually fatal (genetic material is lost)
- ABCDEF (deletion) ACDEF
duplications
- get extra copy of gene
- bad bc increase gene dosage + fusion genes
- tandem: ABCDEF (duplication) ABC(BC)DEF
- reversed: ABCDEF (duplication) ABC(CB)DEF
- displaced: ABCDEF (duplication) ABCD(BC)EF
inversions
-chrom is rearranged from end to end
-bad bc fusion genes
-paracentric: centromere not involved
ABC•DEFG (inversion) ABC•(GFED)
-pericentric inversion: around centromere
ABC•DEFG (inversion) AB(F•EDC)G
translocations
- part of chrom breaks and attaches to different chrom
- bad bc gene dosage + fusion genes
- simple: lil piece of 3 end up on chrom 8
- reciprocal: piece of 3 ends up on 8, piece of 8 ends up on chrom 3
euploidy
- normal number of chromosomes in somatic and gamete cells
- 23 homologous chromosome pairs
- 46 chromosomes
nullisomy
- loss of homologous pair of chrom
- 2n-2
monosomy
- loss of a single chromosome
- 2n-1
- lethal
trisomy
- addition of one chrom to diploid set
- 2n+1
- autosomal trisomy is common (down syndrome)
tetrasomy
- gain an additional homologous pair
- 2n+2
nondisjunction
- failure of chromosomes to separate at anaphase
- most common cause of aneuploidy
polyploidy
- increased number of chromosome sets
- ex. 2n + n becomes 3n (triploidy) or 4n (tetraploidy)
auto-polyploidy
- all chromosome sets are from a single species
- results from errors in meiosis in gamete formation, fertilization, or mitosis after fert
allo-polyploidy
- chromosome sets are from two or more species/ hybridization of 2 species
- common in plants
most common cause of spontaneous abortion is _________
- triploidy (2n+n)
- 15-18% of all abortions
good genetic material must…
- contain complex info in a stable fashion
- replicate faithfully and w/high fidelity
- must encode the phenotype
genes are made up of ______
nucleic acids (people debated this vs. proteins bc they are more complex)
Johanne Friedrich Miescher
- isolated nuclein from nuclei of white blood cells (with pus)
- nuclein contained C, H, O and N, P (later found in DNA)
Walter Flemming
-identifies “threadlike bodies” (chromosomes) during cell division
Walter Sutton
-linked chromosomes as carriers of Mendel’s units of heredity (genes)
Fred Griffith
- elegant experiment increased our knowledge of chemical nature of genes
- mice injected with live R cells (harmless) and heat-killed S cells: mice die, live S cells in blood
- hypothesized “transforming principle” (DNA) from S was responsible for conversion of R to S strain
- 1st clue to unit of heredity