GENETICS

CHROMOSOMES
A gene is a biological set of instructions which tells how a cell develops which determine the characteristics of an organism. Genes are located on cell structures called chromosomes. Chromosomes are like pieces of thin thread made up of protein and DNA (Deoxyribo Nucleic Acid).

Each organism has a certain number of chromosomes. Chromosomes exist in pairs. The members of each pair are similar to the size and shape. Organism Total chromosome No. of pairs Human 46 23 Deer 46 23 Fruit Fly 8 4 Corn 201 10 Algae 148 74 Though algae have more chromosomes than humans, they are not more complex than humans. It is the genes along the chromosomes, rather than the number of chromosomes which determine the characteristics of an organism.

HOMOLOGOUS PAIR

Humans contain 23 homologous pairs of chromosomes. 23 Chromosomes were inherited from the father and 23 from the mother. Humans have 46 chromosomes which are arranged in pairs based on size. Chromosomes number 1 is the largest.

DIPLOID CELLS

Di = two, Ploid = Chromosome number Most cells in the body are diploid cells because they contain two of each type of chromosome.

HAPLOID CELLS

Ha = one Sex calls such as sperm of ova, are haploid cells because they contain only one chromosome of each type. 23 single chromosome in a sperm 23 single chromosomes in an ovum.

SEX CHROMOSOMES

Sex chromosomes in mammals are called X and Y chromosomes. The Y chromosomes are smaller than the X chromosome and contain fewer genes. The genes in sex chromosomes determine the gender of the off spring as male or female. Sperm calls contain either an X or Y chromosome and 22 other chromosomes. Ova (egg cells) contain an X chromosome and 22 other chromosomes.

CELL DIVISION
1. Mitosis Mitosis is a type of call division that produces daughter calls identical to the parent cells. The daughter calls receive an exact copy of the parents cells chromosomes. In mitosis, two daughter calls are produced in each call division. The daughter calls are diploid cells. Mitosis occurs in almost all cells except in sex calls such as sperm of ova.

2. Meiosis Meiosis is a type of cell division that produces daughter calls with half the number of chromosomes of the parent cells. In meiosis, four daughter cells are produced in each division. The daughter cells are haploid cells. Meiosis only occurs in special cells in the testicles which produces sperm or in the ovaries which produces ova (egg cells). Each gamete contains only one of each type of chromosome. When the sperm fertilizes an egg, the resulting cell, the zygote, has the correct number of chromosomes.

DNA
Chromosomes contain a substance called a deoxyribo nucleic acid (DNA). It is the genes in the DNA strands on the chromosomes that determine an organisms characteristics. The strands are made of sugars and phosphates, the DNA molecule is double stranded which each base on one strand weakly bonded to its base pair on each strand. This bonding makes the two strands lock together in a double-helix. The bases are made of nitrogen. There are four bases: 1. A = Adenine 2. T = Thymine 3. C = Cytosine 4. G = Guanine As a result of their chemical structure, base Adenine (A) will only bond with Thymine (T) and base Cytosine (C) will only bond with Guanine (G). These pairs are AT&GC.

COPYING DNA
During mitosis and meiosis, the DNA in the chromosomes copies itself in a process called replication, The DNA copy is an exact replica of the original DNA. When replication begins, weak bonds between the pairs break. The DAN untwist and unzips. Spare bases in the chromosomes match up with its complimentary base on the unzipped strands. A new strand begins to build on each of the old strand. Once a section is copied, the old and new strand begins to form an identical copy of the original DNA.

THE DNA CODE

Organisms are different because proteins in their cells are different. A gene consists of a section of DNA that tells the body what type of protein to make. The difference between one gene and another is the order of the bases. The base order forms a genetic code which tells the type of amino acid used to make up protein molecules. Proteins perform cell functions. Any three bases form a triplet code for one amino acid. The three bases are called codons. With four different types of bases (A, T, C and G) there are 64 possible combinations. Sincde there are only 20 amino acids, most amino acids have alternate codons. There are START codons which indicate the start of an amino acid and a stop codon which indicates the end of an amino acid. The 20 different amino acids join together to make thousands of proteins. The diagram shows amino acids making up a protein chain. Each amino acid has 3 bases. Start codon: - ATG Stop codons: - TAA - TGA - TAG

MUTATIONS
Alterations to genes are called mutations. Mutations occur naturally. Approximately 1 in 1 000 000 cells contain a mutation in its DNA. Natural mutations include: 1. Albinism Albinism occurs in organism born without any skin/hair colouring. The altered gene has stopped the production of melanin which gives colour. The albino has white-pink skin, white hair and red eyes. 2. Down syndrome (Tri 21 syndrome) Tri 21 is where a person has an extra chromosome instead of having a pair of chromosomes at chromosome 21, they have 3. The number of mutations would be increased if exposed to nuclear/solar radiation or strong chemicals such as pesticides. Some mutations can cause death, while others are beneficial. a) Bad mutations include cancer. Cancer can be caused by tar in cigarettes or UV rays from the sun which damage cell in DNA. b) Good mutations include seedless grapes and crops resistant to diseases. Mutations that occur in body cells are not inherited. Mutations that occur in sex cells will be inherited and can affect the offspring.

GENOMES
A genome is the total genetic content of an organism. The genome project ran from 1990 to 2003 and mapped the positions of the genes on out chromosomes. The findings identified: a) 3 billion DNA bases: A, T, C, G b) 32 000 genes c) 26 000 proteins Scientists using this genetic soup to attempt to treat genetic diseases, replace faulty genes in plant and humans and make new medication.

INHERITANCE
A gene is a hereditary unit which controls a specific characteristic. A gene is a small segment of a chromosome. Each chromosome may have hundreds or thousands of genes along its length. Homologous pairs are pairs of chromosomes which are similar in shape and size and carrying matching genes. Of each pair, one chromosome is inherited from the mother and one from the father. Different forms of the same genes are alleles. For example, the gene that controls earlobes comes in two forms: one codon for unattached earlobes and the other for attached earlobes. Each allele (or matching genes) is found at the same location of each of the chromosomes in the pair.

The dominant gene overrides the recessive gene. An allele is a pair of matching genes and is represented by a pair of the same letter: a) The dominant gene is represented by a capital letter. b) The recessive gene is represented by a lowercase of that same letter. Genotype is the type of gene in an organism. Phenotype is the physical characteristics of an organism. Homozygous is when two alleles of a gene is the same. Heterozygous is when the two alleles of a gene is different.

CO-DOMINANCE
Sometimes when an individual is heterozygous for a particular characteristic, both alleles are expressed at the same time. Both alleles are dominant and the offspring has a blend of mixture of the characteristics. This inheritance pattern is called co-dominance or incomplete dominance.

MULTIPLE ALLELES
In humans, some characteristics are controlled by a single gene with a pair of alleles. Several human characteristics determined by a single gene are listed: Characteristic Dominant Recessive Right / Left hand Right hand Left hand Hair line Widows peak Straight hair line Albinism Melanin produced No melanin Earlobe attachment Free Attached There are very few characteristics in organisms which are controlled by a single gene. Usually characteristics are controlled by more than two alleles. For example: eye colour is controlled by at least 3 genes. Eye colour is controlled by: a) A gene on chromosome 15 for brown blue b) A gene on chromosome 19 for green blue c) Another gene on chromosome 15 which affect the above genes This is called multiple alleles.

PEDIGREES
A pedigree is a flow chart that shows the relationships within a family over several generations. The family tree shows the pattern of inherited genetic disorder. Symbols used when drawing pedigrees are:

SEX-LINKED OR X-LINKED GENES

Nearly all inheritance patterns are same for both males and females. This is because inheritance comes from the genes that are on matching pairs of chromosomes. The homologous pairs are chromosomes number 1 to 22. For chromosomes 1 to 22, there are matching chromosomes with matching genes. Male and female carry a pair of each gene. If a gene is faulty, then it may affect both the male and female. For chromosome number 23, a female is XX and male is XY. In humans, the X chromosome is larger and carries more genes than the Y chromosome. These genes are X-linked and the characteristics are sex-linked.

Two examples of X-linked conditions are colour vision and blood-clotting (hemophilia). The allele for colour vision is dominant in humans. 1) A male has a fault gene for colour vision of the X chromosome. The Y chromosome does not carry a dominant gene, therefore the male has the recessive disease of being colour deficient (or colour blind). 2) A female has a fault gene for colour vision on an X chromosome but also has an allele for normal colour vision on the other chromosome. The normal ocolour vision is dominant and masks the faulty gene. She does not have the disease. The female is a carrier because she carries the fault gene but does not have the disease.

CONTROLLING INHERITANCE

Organisms that had their genes altered are called genetically modified (GM) plants or animals. GM plants and animals is a form of selective breeding in which the favored characteristic is selected and passed onto the offspring. Gene technology is used to manipulate the DNA of an organism. With this technology, humans can chose any gene, change it, copy it and put it back to obtain the characteristic desired. The plant or animal with the new gene is called transgenic.

BENEFITS OF GM
1. 2. 3. 4. Larger harvests because plants are more drought resistant and disease resistant. Animals produce more meat, wool or milk. GM foods may be more healthier, taste better and last longer, GM crops have an in-built pest resistance which reduces the amount of pesticides used.

RISKS OF GM

1. Genetic modification is not natural and may change the environment. 2. Pests will eventually become resistant to the in-built pesticides in GM plants. 3. The effects of humans consuming GM foods are unknown.

MANIPULATING GENES
Gene technology use naturally occurring enzymes to cut DNA and then join it back together. 1. Circular pieces of DNA are called plasmids are removed from bacterium. Plasmids are cut using enzymes. 2. DNA is removed from a plant, animal or human cell. The NDA is cut using an enzyme to isolate the desired gene. 3. The foreign gene is transplanted into the plasmid and rejoined to form a recombinant DNA. 4. The recombinant DNA is inserted into a bacterium. Bacteria cell divides and grow to produce many copies of the desired gene. 5. The modified genes are inserted into the cell genome of the plant or animal. The cell will grow and develop into a plant or animal with the desired characteristics.

TESTING THE FOETUS

Prenatal testing involves testing the foetus for genetic defects before the baby is born. Children born to women older than 35 years old have a greater chance of having genetic disorders such as Down syndrome. Cells are tested by the process of amino centesis. A needle is inserted into the amnion which is a fluid filled sac surrounding the foetus. A tiny amount of amniotic fluid is withdrawn. The foetal cells are tested for presence of Down syndrome and other genetic disorders. The woman is carrying an abnormal foetus, she may continue with the pregnancy or terminate the pregnancy before the legal limit of 28 weeks.