CHAPTER 6 : VARIATION

1 Variation refers to the differences that are found among members of the same species. 2 Importance of variation - to identify and distinguish individuals - to ensure the survival of a species. Variation introduces differences in an organism which may cause it to be better suited to adapt to changes in the environment. 3 Examples of variation in humans: - height -weight - shape of nose - dimples - eye colour - blood group - skin colour - finger print - ability to roll the tongue - type of ear lobe 4 Variation can be due to genetic factors, environmental factors or the interaction of both genetic and environmental factors. Types of variation 2 types of variations are continuous variation and discontinuous variation. Continuous variation 1 Continuous variation is variation which shows gradual changes from one extreme to another. 2 Differences are slight and grade into each other. 3 Continuous variation may be caused by genetic factors, environmental factors or the interaction of both factors. 4 A histogram of the changes encountered in continuous variation shows a bell-shaped, normal distribution. 5 Examples of continuous variation: height, weight, skin colour, eye colour, intelligence, Discontinuous variation 1 Discontinuous variation is variation which shows clear and discrete changes in the traits among individuals of the same species. 2 There are no intermediate forms between the discrete categories. 3 Discontinuous variation is caused by genetic factors. A histogram of changes encountered in discontinuous variation shows a discrete distribution. 4 Examples of discontinuous variation: 5 Ability to roll the tongue, presence of dimples, type of ear lobe, type of fingerprint, blood group
No. of individuals No. of individuals

Height (cm)

Able to Not able to roll tongue tongue

Exercise: Construct a table to compare between continuous and discontinuous variation.

CAUSES OF VARIATION A ENVIRONMENTAL FACTORS 1 An organism's phenotype is determined by its genotype but is often altered or modified by environmental factors. 2 Environmental factors which cause variation among individuals of a species include: ORGANISM MAN / ANIMALS Daily activities A pair of identical twins with identical genotype may not have the same body weight if they have different eating habits and take part in different activities. A fair-skinned person will grow darker if he is constantly outdoors. (Eg. There are no fair-skinned fishermen!) FACTORS Nutrition EXAMPLES A child with genes for tallness may not grow tall if his diet is deficient in proteins.

Temperature and light

PLANTS

Light intensity

Seedlings which germinate in the dark are tall and pale coloured (due to etiolation) compared to seedlings which germinate in full sunlight. Plants grow in the direction of prevailing winds. Plants of the same species will grow at different rates if planted in different soils or if given different amounts of water.

Wind Water supply and Type of soil

Variation due to environmental factors cannot be inherited by the following generation. E.g. Weight lifters do not have muscular babies! Those of us who have dyed our hair blond will not produce blond children!

B GENETIC FACTORS Variations arise in genetic constitution due to any one / a combination of the following events: 1 2 3 4 Genetic recombination due to crossing over (occurs during Prophase I) Independent assortment of chromosomes (occurs during Metaphase I and II) Fertilisation Mutation (during meiosis) Genetic recombination due to crossing over 1 During prophase I of meiosis, sister chromatids of homologous chromosomes cross over at the chiasma. 2 At the chiasma, chromosomes break and rejoin to different chromatids. An exchange of genetic material occurs. This phenomena is called crossing over. 3 The formation of different genetic combinations due to crossing over is called genetic recombination. 4 Crossing over produces gametes with unique combinations of genes. This is one reason why gametes from the same set of parents form zygotes that are genetically different - the reason why siblings are genetically different. Longer chromosomes can form more chiasmata and have greater possibilities of crossing over.

chiasma

chiasmata

Independent assortment of homologous chromosomes 1 Homologous chromosomes from different parents pair up randomly at the equatorial plate during metaphase 1. 2 When homologous chromosomes are pulled to opposite poles during anaphase I, there is a possibility that a) one daughter cell receives all the patermal chromosomes while the other receives all the maternal chromosomes or b) each daughter cell receives a combination of paternal and maternal chromosomes. 3 The number of different assortments of paternal and maternal chromosomes which a daughter cell receives depends on the number of homologous chromosomes in the nucleus. 4 To calculate the number of possible assortments that can be produced in a daughter cell, the formula No. of assortments = 2, n where n is the number of haploid chromosomes.

2 possible assortments of chromosomes at the equatorial plate during metephase I: Possibility 1 Parental cell with 2n=4 homologous chromosomes Possiblility 2 Purple chromosomes are paternal Yellow chromosomes are maternal

4 types of haploid cells are produced at the end of meiosis ( Note! Crossing over has not been considered. Think about the possibility of producing identical gametes when both crossing over and independent assortment occur.) Organism Fly Tomato Cat Man 2n 8 12 38 46 n 4 6 19 23 No of assortments 2n 32 64

if crossing over does not take place

Fertilisation Fertilisation between a sperm and an ovum is a random event. Only one of millions of sperms will fuse with an ovum. Due to random assortment of homologous chromosomes, each sperm and ovum has a unique genetic constitution. Due to genetic recombination, each sperm and ovum also has a unique genetic constitution. If a species has 2 pairs of chromosomes (2n = 4), it is able to produce 4 different male gametes 4 different female gametes 4x4= 16 different zygotes

Man, with 23 pairs of chromosomes, is able to produce 2 23 2 23 = 8 388 608 jenis sperma different sperms = 8 388 608 jenis ovum different ova (8 388 608) 2 different zygotes

MUTATION 1 2 3 4 5 Mutation is a spontaneous, random and permanent change that occurs in genes or chromosomes. Genetically altered genes or organisms are described as mutants. Somatic mutations cannot be inherited. They can cause tumours due to localised abnormal cell divisions. Only mutations that occur in gametes can be inherited. Substances which induce mutations are called mutagens. Type of mutagen X-rays Ultraviolet rays colchicine cyclamate Mustard gas nitrous acid acridine orange Effect on genetic material interferes with the function of chromosomes causes structural changes in DNA Prevents the formation of spindle fibres during anaphase leading to duplication of chromosomes / sets of chromosomes. interferes with the function of chromosomes Replaces guanine in DNA with other bases modifies adenine in DNA, causing it to behave like guanine causes addition or deletion of DNA bases.

* * * *

Colchicine is a drug that is extracted from Gloriosa sp. cyclamate is an artificial sweetener which has been banned. acridine orange is a dye used as a biological stain & in the tanning industry mustard gas (bis - 2- chloroethyl sulphide) is a gas which burns the skin, used widely during World War I as a chemical weapon. Other mutagens include radioactive rays (alpha-, beta- and gamma- rays), formaldehyde, benzopyrenes (found in cigarette smoke), asbestos, fungicides and thermal shock. Mutations are divided into 2 types (i) Chromosomal mutations

(ii) Gene or point mutations

Chromosomal mutations Chromosomal mutations are mutations which change the structure of numbers of chromosomes in a cell. The changes may occur during mitosis or meiosis. Changes to chromosome structure include: - duplication - deletion - translocation - inversion

Deletion A chromosome breaks in two locations. The central part detaches and the two ends rejoin. The result is a loss of genetic material.

Inversion A chromosome breaks in two location. The central piece turns 180 degrees before reattaching itself back to the two ends. The result is a rearrangement of genes - there is no loss of genetic material. Duplication A segment of chromosome duplicates itself so that two sets of certain genes are present.

Translocation Part of a chromosome breaks off and rejoins itself to a non-homologous chromosome.

Changes in chromosome numbers include - loss of whole chromosomes - an addition of a whole set/s of chromosomes Chromosome numbers are altered when chromosomes fail to separate during meiosis. As a result,

gametes may have additional chromosomes or may even be diploid instead of haploid. Fusion of these mutant gamete with normal gametes will produce individuals who have additional chromosomes. This causes the individual to suffer from genetic diseases. Additional chromosomes may be additional autosomes or additional sex chromosomes. Syndrome Sex No. of
Chromosome

Chromosome affected No. 21 (2n+1) XO XYY XXY XXX

Characteristics of condition

Down Turner Jacob Klinefelter Triple-X

Male or female Female Male Male Female

47 45 47 47 47

Important changes in chromosome numbers involve an increase in the whole haploid number of chromosomes, a phenomenon called polyploidy. Polyploid individuals may be triploid (3n), tetraploid (4n), pentaploid (5n) etc Polyploidy is well tolerated by plants but not animals. There are many polyploid plants. Poliploidy can be induced by cholchine, which disrupts the formation of spindle fibres during metaphase. Chromosomes remain at the equatorial plate after metaphase and may all be pushed into the same daughter cell when cytokinesis occurs.

GENE MUTATIONS Gen mutations are caused by changes to the sequence of nucleotides in DNA. Addition, deletion and substitution which occur to the sequence of nitrogenous bases in DNA will affect the nature of proteins that are synthesised. Mutated genes which cause defective proteins / enzymes to be synthesized may cause the death of the organism. Such genes are called lethal genes.

Examples of gene mutations in the human population Sickle-cell anaemia The haemoglobin gene undergoes a mutation to form a mutant recessive gene. The mutant gene produces abnormal haemoglobin, causing the red blood cell to become sickle-shaped. Sickle-shaped erythrocytes are not efficient in transporting oxygen and the patient suffers from anaemia. A person who is homozygous recessive (possesses two mutant alleles) will suffer from severe life-threatening anaemia. Albinism A condition caused by a mutation to the gene which produces the pigments found in the skin, hair & eyes. Individuals with this condition are called albinos. Due to their lack of pigmentation, albinos are very fair-skinned, have white hair and red eyes. The gene which causes albinism is recessive and is found on an autosome. Therefore, an individual needs to be fat and homozygous . Hemophilia Hemophilia is an inherited blood disease. The condition is caused by a gene mutation on the X-chromosome. Hemophiliacs are unable to produce certain blood clotting factors.