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Human Genetic Variation Basic terminology What is a gene? • A gene is a functional and physical unit of heredity passed from parent to offspring. • Genes are pieces of DNA, and most genes contain information for making a specific protein. • Genes exist in 2 forms at each location on a chromosome. These are called alleles. • Alleles can be dominant or recessive. What is DNA? • DNA stands for Deoxyribonucleic Acid. • It is the chemical in the nucleus of the cell that carries the genetic instructions for making living organisms. Base Pairs • Cytosine and Thymine = pyrimidines • Adenine and Guanine = purines • A purine always binds with a pyrimidine to form a base pair. • A base pair makes up one “rung” on the DNA ladder (double-helix) • Adenine-Thymine, Cytosine-Guanine What is an amino acid? • An amino acid is one of twenty different kinds of small molecules that link together in long chains to form proteins. • Amino acids are referred to as the “building blocks” of proteins. 20 amino acids **you must memorize these** • • • • • • • • • • • Alanine Arginine Asparagine Aspartic acid Cysteine Glutamic acid Glutamine Glycine Histidine Isoleucine Leucine •Lysine •Methionine •Phenylalanine •Proline •Serine •Threonine •Tryptophan •Tyrosine •Valine What is a chromosome? • One of the threadlike “packages” composed of proteins, genes, and other DNA in the nucleus of a cell. • Different kinds of organisms have different numbers of chromosomes. • Humans have 23 pairs of chromosomes, 46 total chromosomes. • 1 pair of sex chromosomes, 22 pairs of autosomal chromosomes. Contribution • Each parent contributes 1 chromosome to each pair, so children get ½ of their chromosomes from their mother and ½ from their father. Put the following in order from smallest to largest: • • • • • • • Gene Chromosome Amino acid DNA Nucleus Cell Protein