Genetics

Chromosomes A thread of DNA made up of genes

A section of DNA which codes for the
formation of a protein controlling a specific
Gene characteristic of the organism
An alternative form of a gene. Pairs of alleles
occupy the same relative positions on
Allele chromosome pairs.
Haploid A nucleus containing a single set of unpaired
Nucleus chromosomes i.e. 23
Diploid A nucleus containing a pair of chromosomes
Nucleus i.e. 46
Genotype The genetic makeup of an organism
The characteristics visible in an organism
Phenotype controlled by the genotype
Having a pair of identical alleles controlling
Homozygous the same characteristic
Having a pair of dissimilar alleles for a
Heterozygous characteristic
A gene that always shows in the phenotype of
an organism whether the organism is
Dominant heterozygous or homozygous
A gene that only has effect on the phenotype
Recessive when the organism is homozygous
Inheritance The transmission of genetic information from
one generation to another leading to continuity
 of the species and variation within it
 

Mitosis
 Each chromosome is seen to be made up of two parallel

strands called chromatids

 When the nucleus divides into two, one chromatid from

each chromosome goes into each daughter nucleus

 The chromatids in each nucleus now become

chromosomes and later they make copies of themselves

ready for the next cell division
 Mitosis creates new cells for growth or replacement

 Checkpoints control the cell’s progress and ensure that

key processes such as DNA replication and DNA

damage repair are completed before the cell cycle is
complete and allowed to progress. They also ensure that
cells have the correct number of chromosomes.
Process of Mitosis
A period of growth which a cell goes through
Interphase before dividing
Nuclear membrane dissolves and centrioles
Prophase begin moving to opposite ends of the cell
Centrosomes start pulling the chromosomes and
Metaphase they align at the metaphase plate
Microtubules at the poles pull the attached
Anaphase chromosomes to opposite ends of the cell
New membranes are formed around the
Telophase daughter nuclei
A cleavage furrow forms at the position of the
Cytokinesis metaphase plate separating the nuclei
 
Functions of Chromosomes
 When chromatids separate at mitosis, each cell will

receive a full set of genes

 In this way, the chemical instructions in the zygote are

passed on to all the cells of the body

 Which of the instructions are used depends on where a

cell finally ends up

 The gene which causes eye color will have no effect in

the stomach- so the gene’s chemical instructions are

carried out only in the correct situation
 The genes which produce a special effect in a cell are

said to be expressed
Number of Chromosomes
 Human body cells each contain 46 chromosomes- 23

from each parent

 The number of chromosomes in a species is the same in

all its body cells

 The chromosomes have different shapes and sizes

 They are always in pairs- when the zygote is formed, one

of each pair comes from the male gamete and one from
the female gamete
Gamete Production
 The process of cell division which gives rise to gametes

is different from mitosis because it results in the cells

containing only half the diploid number of chromosomes
(haploid) and the process of cell division is called
meiosis
 When the nucleus divides for the first time, it is the

chromosomes and not the chromatids which are

separated
 This results in only half the total number of

chromosomes going to each daughter cell

  Each chromosome is seen to consist of two chromatids
and there is a second division of nucleus which separates
the chromatids into four distinct nuclei
 This gives rise to four gametes, each with the haploid

number of chromosomes\
Meiotic Process
 Meiosis I: separation of homologues chromosomes

 Meiosis II: separation of chromatids

Duplications and protein synthesis in preparation

Interphase for meiosis
Tetrad is formed and crossing over takes place.
Nuclear membrane dissolves and centrioles begin
Prophase I moving to opposite ends of the cell.
Metaphase Tetrads align at metaphase plate held by spindle
I fibers
Homologues chromosomes separate and move to
Anaphase I opposite sides of the cell
Cytoplasm divides to yield two new cells with half
the genetic information of the original cell (haploid
Telophase I number of chromosomes)
Prophase II Nuclear membrane breaks up
Metaphase
II Chromosomes line at the metaphase plate
Anaphase Sister chromatids separate and move to separate
II sides of the cell
Four daughter cells are produced with half the
Telophase number of chromosomes as the original parent
II cell.
 

Mitosis Meiosis
 Occurs in the final stage of cell
Occurs during the cell division leading to production of
division of somatic cells gametes
A full set of chromosomes is Only half the number of
passed on to each daughter chromosomes are passed on to
cell (diploid) the daughter cell (haploid)
The chromosomes and genes The homologous chromosomes
in each daughter cell are and their genes are randomly
identical assorted between the gametes
If organisms are produced via If organisms are produced via
mitosis, they will be clones meiosis, they will show variation
of their parents from their parents
The Structure of the Gene
 Chromosomes consist of protein framework with a long

DNA molecule coiled around the framework in a

complicated way
 A DNA molecule is a long chain of nucleotides

 In DNA, the sugar is deoxyribose and the organic base is

either adenine, thymine, cytosine or guanine

 A always pairs with T and C always pairs with G

 The sequence of bases down the length of the DNA

molecule forms a code which instructs the cell to make

particular proteins
 The type and sequence of amino acids joined together

will determine the kind of protein formed

 It is the sequence of bases in the DNA molecule that

decides which amino acids are used and in which order

they are joined
 A gene, then, is a sequence of triplets of the four bases

which specifies an entire protein

 The chemical reactions which take place in a cell

determine what sort of cell it is and what its functions are

  These chemical reactions are controlled by enzymes and
they follow the genetic code of DNA
Replication of DNA
 The DNA in a chromosome consists of two chains of

nucleotides held together by a chemical bond between

the bases
 The double strand is twisted like a helix

 Before cell division can occur, the DNA has to replicate

 To do this, enzymes make the double strand of DNA

unwind and separate into two single strands

 Nucleotides are brought to the unzipped DNA and joined

to the exposed bases with the aid of enzymes

 The new nucleotides join up to form a chain attached to

the exposed strand

Mutations
 A mutation is a spontaneous change in a gene or a

chromosome
 In gene mutation, it may be that one or more of the genes

are not replicate correctly

 A chromosome mutation may result from damage or loss

of part of a chromosome during mitosis or meiosis, or

even a gain of an extra chromosome
 If mutations occur in non-coding sequences, they are

unlikely to have any effect on the organism and are

neutral
 Only rarely are mutations beneficial

 If a mutation occurs in a gamete, it will affect all the

cells of the individual which develops from the zygote

and therefore the whole body will be affected leading to
a genetic disorder
 If the mutation occurs in a somatic cell, it will affect only

those cells which are produced by the cell leading to

possible cancers
  Mutations in bacteria often lead to resistance to drugs
 Exposure to mutagens is known to increase the rate of

mutations
Single-Factor Inheritance
 There is a pair of genes for each characteristic, one gene

from each parent

 Although the gene pairs control the same characteristic,

they may have different effects

 Often one gene is dominant over the other

 The genes of each pair are on corresponding

chromosomes and occupy corresponding positions

BB Homozygous Dominant
Bb Heterozygous
bb Homozygous Recessive
The Recessive Test
 A black mouse could have either BB or the Bb genotype

 To find out which, the black mouse will be paired with a

known homozygous recessive mouse, bb

 The results will be able to prove whether the mouse is

homozygous dominant or heterozygous

Dominance
 If both genes of an allomorphic pair produce their effects

in the individual the alleles are said to be co-dominant

 Incomplete dominance applies to a case when the effect

of the recessive allele is not completely masked by the

dominant allele
Determination of Sex
 In females, the two sex chromosomes are called the X

chromosomes and are the same size as each other

 In males, the two sex chromosomes are of different sizes,

one corresponds to the female X chromosome while the

other is smaller and named Y
  Female Genotype: XX
 Male Genotype: XY

 When meiosis takes place in the female’s ovary, each

ovum receives one of the X chromosomes so all the ova

are the same
 Meiosis in the male testes results in 50-50 of X and Y

 There is an equal chance of an X or Y chromosome

fertilizing an ovum
Hereditary Diseases
 Albinism: lack of gene for producing the pigment

melanin
 Hemophilia: blood lacks the clotting factor (called factor

VIII)
 Cystic Fibrosis: person inherits two copies of a recessive

allele which controls the production of a protein in cell

membranes causing the epithelial cells lining the
respiratory system and digestive glands to produce thick,
sticky mucus
 Huntington’s Disease: progressive deterioration in

mental and physical faculties

 Down’s Syndrome: chromosomal mutation resulting in

the ovum carrying 24 cells instead of 23 due to the

chromosomes failing to separate. This causes the
individual to have 47 chromosomes instead of 46.
 Sickle-Cell Anemia: defective hemoglobin molecule

which causes the red blood cells to distort into a sickle

shape when subjected to a low oxygen concentration.
The RBCs are less efficient at transporting oxygen and
are more likely to become stuck in a capillary and
prevent blood flow. A person who is heterozygous or
homozygous recessive for sickle cell anemia is safe from
malaria however those with normal hemoglobin are at
risk from it. When the distributions of malaria and SCA
are shown on a map, the two coincide because of the
selective advantage of the sickle cell gene in providing
protection against malaria.