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NONDISJUNCTION
- Sister Chromatids do not separate
- Meiosis 1 (100%) Higher Abnormality Risk (Checkpoint)
- Results to: e.g. Down Syndrome (Excess in 21st Chromosome = Face)
- Meiosis 2 (50%) Lesser Abnormality Risk (Checkpoint)
KARYOTYPING
- Do this to know if a person suffers from the following
- Do not spontaneously judge and conclude
1. Polyploidy
• 3N, 4N or even 8N instead of 2N
• Banana (3N)
• Strawberry (8N)
• (Usually aborted before birth)
• A cell with extra set of chromosomes.
• Extra in ALL chromosomes
2. Aneuploidy
• Presence of an abnormal number of chromosomes in a cell
• Lacking / Excess 1 in forming a pair
XYY syndrome
• Disorder affecting men
• One X chromosome
• Two YY in pair 23 (sex chromosomes)
Clinical symptoms:
- Skeleton malformations (very tall)
- Moderate learning disabilities
- Aggressiveness
- Frequency: 1 / 2000 births
Down´s syndrome
• Disorder affecting women or men (not sex linked)
• Three chromosomes in pair 21
Clinical symptoms:
- Varying degrees of intellectual disability
- Flat head syndrome (brachycephaly)
- Unusually small chin, skin folds at the edge of the eyes,
round face, shorter limbs.
- Various problems with eyesight and heart.
- Frequency: 1.5 / 1000 births
Structural Abnormalities
• Due to External Environment = Alteration
• Pregnancy
- Radiation
- X-Ray
- Modification
• Change in Physical Structures
• Change located in the structure of every single chromosomes
1. Deletions
- A portion of the chromosome is missing or deleted.
2. Duplication
- A portion of the chromosome is duplicated, resulting in extra genetic material.
- Extra Features
- Lost Limbs
3. Insertion
- Genetic material is added from another chromosome
- Trait 1 = Trait 2 (Sex Link)
4. Inversions
- A portion of the chromosome has broken off, turned upside down, and
reattached. As a result, the genetic material is inverted.
- Not Homologous
5. Translocations
- A portion of one chromosome is transferred to another chromosome.
- Crossing Over = Only on Homologous
- Exchange Fruit in the Basket
Meiosis
From 46 to 23
The process to make cells with half the number of chromosomes for sexual reproduction
Meiosis occurs in our germ cells that produce gametes (Sperm & Egg)
Meiosis results in four cells which are genetically different from parent cell and from each other.
The end products of Meiosis are 4 Haploid (n) cells
Haploid comes from both parents
Somatic Cells are non-reproductive cells
Mitosis is to COPY and PASTE
Meiosis is RECOMBINATION and VARIANCE resulting to 4 Haploid cells
Stages of Meiosis
——Meiosis I (5)——
1. Prophase 1
• The most complicated and longest phase of meiosis.
Physical appearance of the chromatin material (5)
Leptotene
- (Leptos=“thin”,nema= “thread”
- The chromatin in the nucleus appears as long thin long threads with many
bead-like structures (chromomeres) along their lengths.
Zygotene
- (zygon=“adjoining”, nema= “thread”)
- Synapsis or pairing of homologous chromosomes begins.
- The four chromosomes form a bivalent (II) consisting of four (4) chromatids.
- Synapsis is very precise that homologues pair side by side, chromomere by
chromomere.
- Tries to find its identical pair
- Synaptonemal complex is formed once the homologues are attached to each
other. The complex is essential for crossing over
- “Glue”
- Starts during
Pachytene
- (Pachus= “thick”)
- Chromosomes are thicker due to further coiling
- The two chromosomes in a bivalent are closely appressed to each other.
- The synaptonemal complex is complete, allowing chiasma to form
- Recombination (Crossing over) generates further genetic variation
particularly if the exchange is between non-sister chromatids
- If identical, nothing will happen (no variation)
- Chiasma a point at which paired chromosomes remain in contact
- Chiasmata (plu.)
- Crossing Over
Diplotene
- (diplo= “two”)
- Homologous chromosomes begin to migrate apart as the 'synaptonemal
complex' disintegrates between the two chromosomal arms
- This allows the two chromosome to move apart, held only by the chiasma(ta).
- Slowly Disappears
- Tetris
2. Metaphase I
- Homologous pairs of chromosomes align along the equator of the cell
- The two chromosomes attach to one spindle fiber by means of the
kinetochore of the centromere.
- Metaphase I in Mitosis (Sister Chromatids and Fix for Gender)
3. Anaphase I
- Spindle fibers contact. Homologous chromosomes separate and move to
opposite poles.
- Normally separate
- Sister but not homologous
- Sister chromatids remain attached at their centromeres.
4.Telophase I
- Nuclear envelopes reappear
- Spindle fibers disappear. Cytokinesis (when the cytoplasm divides) divides
cell into two.
- Formation of Cleavage Furrow
- Invaginates Outside to Inside
5.Telophase I
- Duplicated chromosomes have reached the poles.
- A nuclear envelope and nucleolus re-form around chromosomes.
- Each nucleus now has the haploid number of chromosomes.
—————————Interkinesis————————-
—————————————————————————
——Meiosis II (4)——
6. Prophase II
- Chromosomes coil and become compact
- (if uncoiled after telophase I).
- No 5 Stages
- Nuclear envelope and nucleolus, if re-formed, disappears again.
- Centriole move to opposite poles, forming spindle fibers between them.
7. Metaphase II
- Individual duplicated chromosomes align on equator.
- One chromosome per spindle fiber attached by means of kinetochore of
centromere.
- Centriole has reached the poles.
- Similar to Mitosis’
- Have Crossing Over (Recombination)
8. Anaphase II
- Spindle fibers contract.
- Duplicated chromosomes split in half (centromere dividing in 2)
- Sister chromatids separate and move to opposite poles.
- Similar to Anaphase I in Mitosis
- Recombinant = Okay to call “Sister Chromatids”
9. Telophase II
- Daughter chromosomes has reached the poles.
- Two cells invaginate and form 4 daughter haploid cells (gametes)
- They uncoil and form chromatin.
- Nuclear envelope and nucleolus for around chromatin again.
- Centriole for centrosome.
- After Meoisi II, things aren’t the same anymore
Result of Meiosis
• Gametes (egg & sperm) form
A. Spermatogenesis
- Formation of Sperm Cell
- All daughter cells are viable
B. Oogenesis
- Only 1 Mature Egg Cell
- Bigger than Sperm Cell
- More Materials inside to sustain the process
• Four haploid cells (n) with one copy of each chromosomes
• One allele of each gene
• Different combinations of alleles for different genes along the chromosome
—————————————————————————
Light Bands
Dark (G) Bands
- Replicated Early
- Non-Coding
- S phase
- Replicated Late
- Transcriptionally Active
- Adenine & Thymine rich
- Euchromatin
- How compressed
- Long
- Short
Homologous Chromosomes
- 2 chromosomes (always 2)
- 1 mother, 1 father
- centromere position
- gene composition
Bivalent
- 2 Sister chromatids
- 2n chromosomes
Tetrad
- 4 homologous chromosomes
- paternal