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What is Cytogenetics?
Study of chromosomes w/ relation to cell behaviour
What is Chromatin?
DNA + proteins (Histones)
What is the relationship between DNA and Histones?
DNA wraps around histones to form nucleosomes
What is Euchromatin?
Loosely packed chromatin
What is Heterochromatin?
TIghtly packed chromatin
How is Chromatin organised?
Organised into fibres
How does compaction affect Chromatin?
Affects whether genes in a region of DNA are in/active

What is the Telomere?
Protective caps to stop DNA degrading in Replication
What is a Chromatid?
1 copy of replicated DNA
What happens before Cell Division?
Chromosomes replicate
What is the purpose of Chromatids during Cell Division?
2 identical copies (chromatids) remain attached at centromere
What happens after Cell Division?
Each daughter cell has 1 chromatid
What are Diploid Organisms?
2 complete sets of each chromosome, 1 from each parent
What is a Haploid?
Half a Diploid
What must Gametes be?
Haploid
What is Meiosis?
Gamete formation
What is Mitosis?
Growth and repair
What is the issue with Mitosis in Sperm Generation?
Zygote of generation 1 would have 4 copies, gen 2 would have 8, haploid needed
Describe the 3 stages of Meiosis?
Replication of chromosomes
Separation of Homologous pairs
Separation of Chromatids

Describe the Replication of Chromosomes in Meiosis?
Diploid Parent
Replication
Result
Homologous pair of chromosomes in diploid parent cell
Chromosomes replicate
Homologous pair of replicated chromosomes

Describe the Separation of Homologous Pairs in Meiosis
Chromosomes
Haploid
Homologous chromosomes separate
Haploid cells w/ replicated chromosomes

Describe the Separation of Chromatids in Meiosis
Sisters
What do they form?
Sister chromatids separate
Haploids w/ unreplicated chromosomes
What happens before Meiosis 1?
Interphase
Describe Interphase
Chromosomes duplicate, DNA replication occurs here
Describe Prophase 1
Condensation
Chromosomes
Condensation of chromosomes
Homologous chromosomes pair and exchange
Describe Metaphase 1
Tetrads line up
Describe Anaphase 1
Splitting
Poles
Pairs of homologous chromosomes split up
Pulled apart to opposite poles
Describe Telophase 1 and Cytokenesis
Haploids
Chromosomes
2 haploids form
Chromosomes are still double
What does Meiosis 2 involve?
Prophase 2, Metaphase 2, Anaphase 2, Telophase 2 & Cytokenesis
What happens in Meiosis 2?
2nd round of division, sister chromatids separate
What is the result of Meiosis 2?
4 Haploid Daughters, containing single Chromosomes
What are the possible types of haploid daughters?
100% paternal, 100% maternal, cross of both
How does Meiosis increase Genetic Diversity?
Produces new combos of genes in gametes
How does Independent Assortment produce new combos of Genes in Gametes?
Independent assortment of maternal/paternal chromosomes into gametes
How many pairs of Chromosomes are formed in Meiosis?
23, 223 Combos
How does Crossing Over produce new combos of Genes in Gametes?
Exchange of maternal and paternal DNA during Prophase 1
What is Aneuploidy?
Loss/gain of a Chromosome
Are most cases of Aneuploid survivable?
No
What is Non-Disjunction?
Chromosomes don’t separate properly in Meiosis 1 or Sister Chromatids don’t in M2
What would be the products if Non-Disjunction happened in Meiosis 1?
n+1, n+1, n-1, n-1
What would be the products if Non-Disjunction happened in Meiosis 2?
n+1, n-1, n, n
What is the role of Trypsin Enzymes?
Partially digest chromosomal proteins
What is the role of a Giemsa Stain?
Produces dark and light bands
What is the name of a Dark Giemsa Stain?
AT rich
What is the name of a Light Giemsa Stain?
GC rich
What is a Karotype?
Collection of chromosomes in a cell
How do Karotypes work?
Arrange chromosomes by size, morphology (shape) & bonding to make a karyogram
How many Chromosomes are there?
46, 23 Pairs
What are the 2 types of Chromosomes?
22 pairs of autosomes, 1 pair of sex chromosomes
How do Cytogenetics use Karotypes?
To identify extra or missing chromosomes
What is the 1 case where Aneuploidies are survivable?
Chromosome 21
How many copies of Chromosome 21 are there?
3
How does the mother’s age affect aneuploidy in live births in Trisomy 21?
< 1 in 2000 in u30
> 1 in 100 in 30+
What is Trisomy 21 (Down Syndrome)?
Aneuploidy in Chromosome 21
What are the effects of Down Syndrome?
Growth
Disabilities
Immunity
Physical growth delays, intellectual disabilities, poor immune function
What causes Down Syndrome?
Excess gene products from Chromosome 21 relative to genes they interact with
How do Sex Chromosome Aneuploidies relate to other types?
More survivable
What are the different Aneuplodies in the XY Karotype?
Loss of XY - Turner Syndrome
Gain of Y - XYY
Loss of X - Fatal
Gain of X - K Line Felter Syndrome
What are the different Aneuplodies in the XX Karotype?
Loss of X - Turner Syndrome
Gain of X
What is Polyploidy?
Extra set of all Chromosomes
What are some different types of Polyploidy?
Diploid - 2n, Triploid - 3n, Tetraploid - 4n, Hexaploid - 6n
What type of Polyploidy is very common in Plants but rare in Animals?
Hexaploid
What animal is tetraploid?
Red Viscacha Rat - 102 chromosomes