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DNA and chromosomes

Inside every cell in an organism is a complete set of genetic information. o This set of genetic information is unique to each person (with of course the exception of identical twins) This information is contained in pairs of chromosomes, made of DNA. Humans have 46 chromosomes (23 homologous pairs) o Each chromosome, caries on it thousands of genes: each gene is responsible for a single aspect of that organism. The structure of DNA is known as a double helix. A gene is the segment of a chromosome responsible for carrying the instructions to make a single protein to perform one function. Each three bases along a strand of the DNA form a triplet o Each triplet represents one amino acid. o The instructions on how to construct a protein are read from the DNA.

DNA Replication As cells divide and reproduce, it is necessary for the chromosomes to be replicated. o During the process of mitosis, the chromosomes are replicated so that there are two full sets. o In the process of meiosis that occurs to form the reproductive cells, this doubling occurs but the end result is in fact four cells, each cell with only one of each homologous pair and a haploid number of chromosomes. During the process of replicating many millions of bases, it is possible that an error can occur. o Sometimes bases can be added, deleted or altered. This is a known as a mutation. A mutation that occurs in a gamete may lead to offspring carrying a slightly different genetic code. Some mutations may produce genes that continue to function; others may stop the cell functioning. This is the basis of variation in a species and the changes that lead to evolution over time.

Dominant and recessive traits Many characteristics are determined by a single gene and the combination of alleles o One allele may be dominant over other one (which is said to be recessive). This means that two copies of the recessive gene must be present for that particular trait to show. If offspring show a different phenotype to both parents, then that trait must be recessive. o Example: The ability of a person to roll their tongue. Some people lack the correct muscle arrangement and are unable to do this. This is due to a recessive gene. A punnet square can be drawn to show the possible combinations of parents.

R = gene for ability to roll tongue (dominant) r = gene for inability to roll tongue (recessive)

Homozygous tongue roller (RR) crossed with non tongue roller (rr): 100% of offspring would be expected to be heterozygous tongue rollers

Heterozygous tongue roller (Rr) crossed with non tongue roller (rr) 50% of offspring would be expected to be heterozygous tongue rollers, 50% would be non tongue rollers

Heterozygous tongue roller (Rr) crossed with heterozygous tongue roller (Rr) 75% of offspring would be expected to be tongue rollers (50% heterozygous and 25% homozygous). 25% would be expected to be non tongue rollers.

Pedigree diagrams A pedigree diagram is used to track a particular gene through generations. The table on the left shows some of the symbols that are used. This pedigree chart tracks the incidence of colour blindness through three generation of offspring.

Genetic illnesses On average, each person carries 5 - 8 dangerous genes that could cause offspring to develop some kind of illness. Most dangerous genes are recessive and only show in the offspring of two carriers or sufferers. Some of the more common illnesses include: o Sickle Cell Anaemia. Haemoglobin proteins are not formed in the proper (donut) shape; this prevents proper oxygen carrying in blood. o Galactosemia. An enzyme to break down galactose (in milk) is not produced. A dangerous compound is formed and can cause damage to the nervous system. o Tay Sachs Disease. An enzyme to break down some fats is not produced. This can lead to a loss of mobility, and death usually occurs by 3 years of age. o Diabetes Mellitus. Sufferers cannot produce insulin to help store sugar in the cells. Sugar collects in the blood and can cause cells to die.