CELLULAR REPRODUCTION AND GENETICS

Chromosome - carrying genetic information in the form of genes.

DNA ( deoxyribonucleic acid ) - genetic material that serves as the set of instructions that direct the activities and
functions of the cell.

THE CELL CYLE

- chromosomes of a cell change form as the cell transitions from one stage to another
- may be divided into two stages.
1. interphase - chromosomes are long and extended ( chromatin ).
2. cell division phase - chromosomes become condensed .
- interphase : the chromosome replicates.
- three substages of interphase :
1. G1 or First Gap Period – the stage from the formation of a new cell until it starts to replicate its DNA. This
stage is characterized by RNA synthesis.
2. Synthesis Stage or S phase – period of DNA synthesis or replication.
3. G2 or Second Gap Period – period of rapid cell growth to prepare for cell division.
- during interphase, the nucleus is clearly visible as a distinct membrane bound orgnalle.

CELL DIVISION
- the process in which a parent cell divides into two or more daughter cells
- there are two types of cell division : mitosis and meiosis

1. Mitosis – is a type of cell division that produces two identical daughter cells and is divided into four stages.
Stage A : Prophase
o each chromosome is made up of two identical sister chromatids as a result of DNA replication.
o the chromatids are still attached to one point called centromere.
o centromere may divide the chromosome into the shorter arms or p arms ( petite ) and the longer
arms or q arms.
o if the chromosomes are stained using Giemsa, alternating dark and light regions will be seen.
 Giemsa stain is used in cytogenetics.
 These are heterochromatin and euchromatin.
 Heterochromatin : darklystaining region
 Euchromatin : Lightly staining region

Stage B : Metaphase

o chromosomes meet in the middle

o highly coiled chromosomes align in the metaphase plate
o nuclear membrane will disappear
o spindle fibers are formed
o kinetochore : each fiber binds to a protein at the centromere of each sister chromatid of the
chromosome

Stage C : Anaphase

o chromosomes get pulled apart by spindle fibers

o liberates the sister chromatids
o each chromatid is regarded as a matured chromosome and is only made up of one sister chromatid

Stage D : Telophase

o chromosomes are at the opposite poles

o they uncoil and indistinct
o new nuclear membrane
o spindle fibers disappear
o cytokinesis : division of the cytoplasm to form two separate daughter cells
2. Meiosis – cell division of gametes or sex cells and is a greek word meaning to make smaller. Meiosis has two
sets of cell division (Meiosis I and Meiosis II)
 Interphase I

o similar to mitosis interphase

o chromosome replicate (S phase)
o centriole pairs replicates
o nucleus and nucleolus are still visible

Meiosis I

o Reduces the chromosomes number by one – half

o Reduction division

Stage A : Prophase I

o Meiosis starts with this stage

o Synapsis
o Cross over occurs during prophase I which is one of the two major occurrences during meiosis.
o Leptotene – chromosome are made up of two long threads of sister chromatids
o Zygotene – chromosomes begin to pair off
o Pachytene – chromosomes contract due to repeated coiling
o Diplotine – the chromosomes begin to uncoil
o Diakinesis – the paired chromosomes disperse in the nucleus
o Crossing over - A segment of sister chromatid of one chromosome is exchanged with the same
segment of the sister chromatid of the homologous chromosome.
o Chiasmata is the site of crossing over

Stage B : Metaphase I

o Tetrads align in the metaphase plate or equatorial plate

o Shortest phase
o Independent assortment occurs
1. Orientation of homologous pair to poles is random.
2. Variation
3. Formula: 2n

Stage C : Anaphase I
o Homologous chromosomes separate and move towards the poles
o The sister chromatids remain attach to the centromere

Stage D : Telophase I
o Chromosomes reach their respective poles
o Each pole has haploid set of chromosomes
o Cytokinesis occurs and two daughter cells are formed
o Followed by interphase II but without DNA replication

Meiosis II
o Has no DNA replication
o Its process is similar to mitosis

Role of Meiosis in Gametogenesis

 When gametes unite during fertilization, they form a diploid zygote

 Zygote has one set off chromosomes each male and female parent
 In humans, both mother and father contribute 23 chromosomes. Thus, the zygote has 46 chromosomes.
 Sperm cells are formed in the testes of male.
 Meiosis produces four cells with different size
 These cells become spermatozoa or sperm
 Mitochondria provides the energy movement of the sperm’s tail
 In female, eggs are produced in the ovary
 After meiosis I, two cells – one big and one small are produced
 Meiosis II produces one big and one small cell from the first big cell
 The big cell becomes the egg cell
When Something Goes Wrong During Meiosis

 When chromosomes in a pair fail to separate from each other, the resulting gamete acquires both members
of a pair of chromosomes.
 If this involves chromosome pair 21, and one of the gametes contains two copies of the chromosome, then
the individual produced will have 47 chromosomes with three copies of chromosome 21.
 This condition is called Down’s Syndrome
 The extra chromosome 21 will lead to imbalance of genetic material
 There are times that a piece of chromosome breaks off and get lost.
 that’s what you call cri du chat syndrome which means cat’s cry in French which is the sound of a baby with
this condition when they cry
Mendelian Genetics - Refers to an inheritance pattern that follows the laws of segregation and independent
assortment

Mendel’s Discovery of the Principle of Heredity

 Gregor Mendel was an Augustinian monk in Brunn, Austria-Hungarian Empire

 Interested in investigating how individual traits were inherited
 Wanted to find out whether both parents contributed equally to the traits of the offspring
 Chose garden pea for his experiments
 First produced pure-breeding plants
 Allowed his pea plants to self – pollinate for many generations
 Began cross pollinating peas with contrasting traits
 Pure – breeding peas constituted the parental
 First hypothesis : in each organism, there is a pair of factors which controls the appearance of a particular trait
 For each trait he studied, there is one trait that dominates the other
 Dominant trait : trait of round seeds
 Recessive trait : trait of wrinkled seeds
 Principle of Dominance : the dominant trait dominates or prevents the expression of the recessive trait

Law of Segregation - the pair of genes segregate from each other during gamete fermentation
Genes and Gametes
• Individuals that are pure breeding for a particular character have identical alleles
• These individuals have a homozygous genotype
• The genes of a pair separate during gamete formation
• One gene goes to one gamete while the other gene goes to another
• Each allele is found in a chromosome of a chromosome pair
• The chromosome serve as vehicle for these alleles
• When the chromosomes separate during anaphase I, the alleles they carry also segregate
• This becomes the chromosomal basis of Mendel’s first law
• Phenotype : the expressions of a genotype of an individual for a particular character
Knowing the Genotype
1. Self Fertilization Technique - It enables us to determine whether an individual is homozygous or heterozygous
2. Test Cross Technique - Involves a cross between the recessive parental type and the individual with the
dominant trait

• Probability - Chance plays a role in the inheritance of trait

• Dihybrid cross : cross between individuals that involve two heterozygous pairs of genes

Law of Independent Assortment - Explains why traits are inherited independent from each other

The Birth of the Science of Genetics

 Mendel published his experimental results and analysis in 1866

 Biologists of that time paid little attention to them
 In 1900, his experiments were rediscovered by three scientists

Non Mendelian Pattern of Inheritance

1. Incomplete dominance - The offspring will have a phenotype intermediate between the phenotype of both
parents
2. Codominance - When one allele is not dominant over another
3. Multiple Alleles - Sometimes, even if only two alleles control a trait, there may actually be more than two types
of alleles available
4. Sex Linked Genes - Genes located on the x chromosome : X – linked genes
Sex Chromosomes and Sex Determination
• Human body cells shows 23 pairs of chromosomes in both male and female
• 22 are somatic and the 23rd pair is the sex chromosome
• XY : male
• XX : female
• If an egg is fertilized by a sperm with a Y chromosome, the offspring is male
• If an egg is fertilized by a sperm carrying an X chromosome, the offspring is female

Sex Linked Genes

Genotype Phenotype
1. XX Normal female
2. XXc Normal female,carrier of the gene
3. XcXc Color blind female
4. XY Normal male
5. XcY Color blind male