Chapter 8 Part 1 Flashcards
Metacentric
The centromere is located exactly in the middle
Submetacentric
The centromere was displaced towards one location
p-arm
The shorter arm of the chromosome
q-arm
The longer arm of the chromosome
Acrocentric
The centromere is near one end, producing a long arm and a knob, or satellite, at the other end
Telocentric
The centromere is at or very near the end of the chromosome
Karyotype
The complete set of chromosomes passed by an organism
– usually presented in metaphase
Colchicine ** extra not too important
Prevents chromosomes to go to anaphase to see karyotypes
Extra Stuff – Click on to see what it is!
Giesma – reveals G bands which distinguish areas of DNA that are rich in adenine-thymine base pairs
Q-bands – reveal by staining chromosomes with quinacrine mustard
C-bands – which are regions of DA occupied by centromeric heterochromatic
R-bands –which are rich in cytosine-guanine base pairs
What are the different types of chromosome mutations?
- Chromosome Rearrangement
- Aneuploidy
- Polyploidy
Chromosome rearrangement
Mutations that change the structure of the chromosome
There are four basic types of rearrangements:
1. Duplication
2. Deletions
3. Inversions
4. Translocations
Occur…when double stranded breaks occur in the DNA molecule found within a chromosome
Aneuploidy
The number of chromosomes is altered: one or more individual chromosomes are added or deleted
For example…
- Trisomy 21 which results from adding have three 21 chromosomes
- People with this issue get Down syndrome
Polyploidy
One or more complete sets of chromosomes are added
A polyploidy is any organism that has more than two sets of chromosomes
– 3n,4n,5n, and more
How does double-strand repair and mutation occur?
Double-stranded breaks in DNA often cause cell death
If the two broken ends are rejoined correctly, the original chromosome is restored
Sometimes the wrong ends are connected…this causes mutations
Chromosome rearrangements cal also rise through errors in crossing over or when crossing over occurs between repeated DNA sequences
Chromosome Duplication
Is a mutation in which part of the chromosome has been doubled….
Consider a chromosome with segments AB*CDEFG
* = centromere
A duplication of the allele E and F can result in
AB*CDEFEFG –> So notice that the chromosome is larger in this case
Tandem Duplication
This type of duplication, in which the duplicated segments is immediately adjacent to the original segment
Ex. EFEF
Displaced Duplication
If the duplicated segment of alleles of one chromosomes are located some distance away from the original location on the same chromosome
Ex. ABEF*CDEFGH
Reverse Duplication
A duplication where the orientation of the alleles has been inverted
AB*CDEFFEG
EF switched to FE
Unequal Crossing Over
Chromosomes misalign during crossing over and results in duplication and deletions
Ex. Human colour Blindness
Abnormal gene dosing
The amount of a particular protein synthesized by a cell is often directly related to the number of copies of that gene
Pseudo-dominance
Normally recessive mutations on the homologous chromosomes lacking the deletion maybe expressed when the wild-type allele has been deleted and no longer masks the recessive allele
Haplo-insuffiecient
Some genes must be present in two copies for normal function, and this situation occurs when we are missing the other gene
Paracentric Inversion
Inversions that occur before or after the centromere
AB*DCEFG
Pericentric Inversion
Inversion that occur between the centromere
ADB*CEFG