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Meosis

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

Chromosomal Abnormalities can be generally categorized base on

NUMERICAL ABNORMALITIES (Changes in the number of chromosomes of a karyotype)

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

Monosomy - an individual is missing one of the chromosomes from a


pair.

Turner´s syndrome (XO)


• Disorder affecting women
• An only X chromosome in pair 23 (sex chromosomes)
• No Y chromosome
Clinical symptoms:
- Sterility and underdeveloped genitals
- Short height
- Frequency: 1 / 3300 births
- Lacks girly features
- Webbed Neck

Trisomy: an individual has three chromosomes instead of a pair

Klinefelter´s syndrome (XXY)


• Disorder affecting men
• Two (2) X chromosomes
• One (1) Y chromosome in pair 23 (sex chromosomes)
Clinical symptoms:
- Small genitals and sterility in some cases
- Mild learning disabilities
- Frequency: 1.4 / 1000 births
- Testosterone suppressed by estrogen
- Genetically passable, since children inherit the excess

Triple X syndrome (XXX) = super female


• Disorder affecting women
• Three X chromosomes in pair 23 (sex chromosomes)
Clinical symptoms:
- Mild learning disabilities
- Delayed development of speech and motor skills
- Frequency: 1 / 1000 births

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

Reflects the behavior of the chromosome


• Chromosome is VERY COMPACT
Diakinesis
- (dia= “across”, kinesis= “movement”)
- The chromosomes are at their most condensed form during diakinesis. 
- Bivalents are maximally condensed and are distributed throughout the
nucleus.
- Termination of the chiasmata between homologues that underwent crossing
over occurs at this stage resulting in complete separation of the homologues
- By the end of this stage, both the nucleolus and nucleolar membrane have
disappeared, the spindle has formed, and Prophase I is completed
- No Crossing Over
- No Chiasmata

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)

—————————-Checkpoint! (Non Disjuntion)

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————————-

- The interphase after the first meiotic division


- It may be present or absent between meiosis I and meiosis II
- If present it may be short or in some cases Telophase1 directly enters to
prophase II.
- It is similar to interphase except for the absence of replication of DNA.
- Due to the looseness, compression happens again
- “PRE- PROPHASE II”
- Like a BUS on a STOP OVER to supply proteins, nutrients, etc.

—————————————————————————

——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

- Less Condensed Chromatin


- Contain Condensed Chromatin

- Transcriptionally Active
- Adenine & Thymine rich

- Gene and Guanine & Cytosine rich


- Heterochromatin

- Euchromatin
- How compressed

- Long
- Short

Centromere - sister chromatids

Kinetochore- point of attachment of spindle fibers during Cell Division

Locus (Loci) - physical site / location of a specific gene on a chromosome

Allele - variant form of a gene (blond, red, black, short, tall)

Gene - a sequence of DNA that encodes a specific trait

Homologous Chromosomes

- 2 chromosomes (always 2)

- 1 mother, 1 father

- pairs similar in length

- centromere position

- gene composition

- sister chromatids of a duplicate chromosomes

Bivalent

- 2 Sister chromatids

- 2n chromosomes

Tetrad

- 4 homologous chromosomes

- paternal

It is possible to have multiple genes on a loci


Criteria = Gene
A segment of DNA is a gene that can be found inside the nucleus
Exact address for cataract (c1), the difference is on how to activate (Lifestyle, Hereditary)

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