1. Topic 4.2: Meiosis

2. Assessment Statement
4.2.1: State that meiosis is a reduction division of a diploid nucleus to form haploid nuclei
4.2.2: Define homologous chromosomes
4.2.3: Outline the process of meiosis, including pairing homologous chromosomes and crossing over, followed by two divisions, which results in four haploid cells
4.2.4: Explain that non-disjunction can lead to changes in the chromosome number, illustrated by reference to Down’s syndrome
4.2.5: State that, in karyotyping, chromosomes are arranged in pairs according to their size and structure
4.2.6: State that karyotyping is performed using cells colleced by chorionic villus sampling or amniocentesis, for pre-natal diagnosis of chromosome abnormalities
4.2.7: Analyze a human karyotype to determine gender and whether non-disjunction has occurred

3. Meiosis Meiosis is a form of cell division which results in gametes
Although mitosis is similar to meiosis, there are some fundamental differences

4. Meiosis
One characteristic which makes meiosis unique is that each new cell which results from it has only half the number of chromosomes that a typical cell in that organism has.
Humans have 46 chromosomes in their cells, but in the sperm and egg cells, there are only 23 chromosomes in each cell
Cells which contain half the chromosome number are called haploid cells
Cells with the full chromosome number are called diploid cells

5. Meiosis
This type of cell division is called a reduction division because the number of chromosomes has been reduced
This reduction is necessary in gamete production because during sexual reproduction, each parent contributes 50% of the genetic information
The cells formed from cell division are referred to as daughter cells

6. Homologous chromosome
In a diploid cell, the 46 chromosomes can be grouped into 23 pairs of chromosomes called homologous chromosomes.
Homologous means similar in shape and size and it means that the two chromosomes carry the same genes
The reason there are two of each is that one came from the father and the other from the mother

7. Homologous chromosome
Although a pair of homologous chromosomes carry the same genes, they are not identical because the alleles for the genes from each parent could be different
We use the letter n to denote the number of unique chromosomes in an organism
In eukaryotes, there are n pairs of chromosome
With two of each, that makes a total of 2n per cell
Haploid- n
Diploid-2n

8. Phases of meiosis
Meiosis is a step-by-step process by which a diploid parent cell produces four haploid daughter cells
Before the steps begins, DNA replication allows the cell to make a complete copy of its genetic information during interphase
This results in each chromatid having an identical copy, or sister chromatid, attached to it at the centromere

9. Phases of meiosis
In order to produce a total of four cells, the parent cell must divide two times:
the first meiotic division makes two cells and then each of these divides during the second meiotic division to make a total of four cells

10. Phases of meiosis
Another characteristic which distinguishes meiosis from mitosis:
During the first step, called prophase I, there is an exchange of genetic material between non-sister chromatids in a process called crossing over
This trading of segments of genes happen when sections of two homologous chromatids break at the same point, twist around each other and each connects to the other’s initial position

11. Phases of meiosis
Crossing over allows DNA from a person’s maternal chromosomes to mix with DNA from the paternal chromosomes
In this way, the recominant chromatids which end up in the sperm or the egg cells are a mosaic of the parent cell’s original chromatids

12. Phases of meiosis Prophase I
Chromosomes become visible as the DNA becomes more compact
Homologous chromosomes, also called homologues, are attracted to each other and pair up – one is from the individual’s father, the other from the mother
Crossing over occurs
Spindle fibers made from microtubules form

13. Phases of meiosis Metaphase I
The bivalents (another name for the pairs of homologous chromosomes) line up across the cell’s equator
The nuclear membrane disintegrates

14. Phases of meiosis Anaphase I
Spindle fibers from the poles attach to chromosomes and pull them to opposite poles of the cell

15. Phases of meiosis Telophase I Spindle and spindle fibers disintegrate
Usually, the chromosomes uncoil and new nuclear membrane form
Many plants do not have a telophase I state

16. Phases of meiosis
At the end of meiosis I, cytokinesis happens: the cell splits into two separate cells
The cells at this point are haploid because they contain only one chromosome of each pair
Each chromatid still has its sister chromatid attached to it, so not S phase is necessary
Now meiosis II takes place in order to separate the sister chromatids

17. Phases of meiosis Prophase II Metaphase II
DNA condenses into visible chromosomes again
New meiotic spindle fibers are produced
Metaphase II
Nuclear membranes disintegrate
The individual chromosomes line up along the equator of each cell in no special order; this is called random orientiation

18. Phases of meiosis Anaphase II
Centromeres of each chromosome split, releasing each sister chromatid as an individual chromosome
The spindle fiber pull individual chromatids to opposite end of the cell
Because of random orientation, the chromotids could be pulled towards either of the newly forming daughter cells
In animal cells, cell membranes pinch off in the middle, whereas in plant cells, new cell plates form to demarcate the four cells

19. Phases of meiosis Telophase II Chromosomes unwind their strands of DNA
Nuclear envelopes form around each for the four haploid cells, preparing them for cytokinesis

20. Down Syndrome
Sometimes chromosomes do not separate the way they are expected to during the first or second meiotic division
This results in an unequal distribution of chromosomes
In humans this means that an egg cell or a sperm cell might have 24 instead of 23 chromosomes
This unexpected distribution of chromosomes is due to a non-disjunction, a process by which two or more homologous chromosomes stick together instead of separating

21. Down Syndrome
In the case of Down’s syndrome, non-disjunction happens in the 21st pair of chromosome: the child receives 3 instead of 2.
Such an anomaly is called a trisomy and Down’s syndrome is referred to as trisomy 21
Having an additional chromosome brings about malformation of the digestive system and causes differing degrees of learning difficulties

22. Down Syndrome
Down Syndrome is the most common chromosomal anomaly and affects approximately 1 birth in 800
The risk of Down’s syndrome increases as the age of the mother increases, particularly over the age of 35
Non-disjunction can happen with other chromosomes, and all of them can have a major impact on a child’s development
Some developmental consequences are so severe that the fetus may not survive beyond a few weeks or months

23. Karyotypes
A karyotype is a photograph of the chromosomes found in a cell arranged according to a standard format.
The chromosomes are placed in order according to their size and shape
The shape depends mainly on the position of the centromere

24. Karyotypes A karyotype is made by the following steps:
1) The cells are stained and prepared on a glass slide to see their chromosomes under a light microscope
2) Photomicrograph images are obtained of the chromosomes during mitotic metaphase
3) The images are cut and separated, a process which can be done using scissors or using a computer
4) The images of each pair of chromosomes are placed in order by size and the position of their centromere

25. Karyotypes Obtaining cells for karyotyping
An unborn baby’s cells can be extracted in one or two ways: either by a process called amniocentesis or by removing them from the chorionic villus
Amniocentesis: Involves using a hypodermic needle to extract some of the amniotic fluid around the developing baby
Inside the liquid, some of the baby’s cells can be found and used for the preparation of a karyotype
Chorionic villus sampling: involves obtaining a tissue sample from the placenta’s finger-like projections into the uterus wall