DNA, Genes and chromosomes

Introduction

Assignment two will firstly explain about DNA, genes and chromosomes. It will then evaluate some pre- disposed genetic factors that affect normal human functioning and look a range of different diseases. It will then evaluate pre-disposed environmental factors that may also affect normal human functioning and discuss another range of diseases.

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Genetic information is contained in nucleic acids, which are the molecules that hold the information. All living cells and viruses contain information and there are two types of nucleic acid, deoxyribonucleic acid (DNA), the self replicating genetic material in living cells and ribonucleic acid (RNA). The structure of DNA was worked out by Watson and Crick in the 1950s. Nucleic acids are made of units called nucleotides and an individual nucleotide is in three parts which combine by condensation reactions. These are phosphoric acid, pentose sugar, which in DNA is deoxyribose and in RNA ribose and there is an organic base comprising of five and divided into two groups. The DNA is a double stranded polymer of nucleotides (polynucleotide) comprising of many million nucleotide units. Its structure is in the form of double helix which is maintained by hydrogen bonding and it contains four organ bases, adenine, guanine, cytosine and thymine.

A gene is the unit of heredity, comprising of a length of DNA that influences an organisms form and function. The protein produced when a gene is expressed produces a characteristic and each gene occupies its own position on the chromosome called the locus. Different forms of the same genes are called allele and there may be different alleles of the same gene with slightly different DNA structure.

The chromosome is one long coiled DNA molecule which has genes dotted along its length. The genetic material of each cell is packaged together in the nucleus as chromosomes and each one of these contains very long DNA molecules. The human body has 46 chromosomes and in each body cell the chromosomes are in pairs, called homologous and a full set of chromosomes is called the karotype. Chromosomes make copies of each other so that when they divide, each daughter cell receives an exact copy of the genetic information. This is called replication and results in two DNA molecules.

The Human Genome Project started in 1990 and it was a huge task to determine the order of bases in the human genome as well as identifying all the genes formed by the bases. Its other aims were to find the location of the genes on the 23 chromosomes and store the information on a data base. The purpose of collating the information was for scientists to know which sections of DNA, on which chromosomes are responsible for many inherited diseases. The main uses of genetic testing are in carrier screening, pre-implantation genetic diagnosis, new born baby screening, and for prediction testing of onset disorders such as Huntington disease, onset cancers and Alzheimer’s disease. Using a sample of DNA it is possible to find out whether a person is carrying a faulty gene which causes a disease such as cystic fibrosis, or to identify genes that play a contributory role in diseases such as breast cancer. From results it is possible to eliminate all risk of the disease by correcting the faulty allele.

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Sexual reproduction produces genetic variation amongst individuals in a population.