Biology Exam Preparation Background Genetics: the study of heredity genes passed on from parent generations

Charissa Chandra

Variation = change caused by the information found on the chromosomes within nucleus of all organisms (genetic information) Genotype = genetic make up Phenotype = physical appearance genes + environment Twin studies show the effect of the environment on phenotypes identical twins have the exact same genes differences attributed to the environment

Gametes (sex cells sperm and ova) contain information to be passed on. Body cells = double set of chromosomes (diploid) Homologous chromosomes (pair) = two similar chromosomes that have matching alleles Meiosis forms gametes which have half the chromosome number of parent body cell (haploid). Haploid consists of one chromosome from each homologous pair.

Fertilisation two gametes (haploid) combine to form full chromosome number. male, female. Offspring have characteristics from both parents.

Females have two matching homologous sex chromosomes (XX). Males have mismatching chromosomes (XY). [X & Y = sex chromosomes] Chromosomes that are not sex chromosomes = autosomes Karyotype: all chromosomes laid out in homologous pairs Meiosis: cell division of homologous pairs (autosomes & sex chromosomes)

Chromosomes are made up of genes Genes = segments of chromosome that determine individual aspects of an individuals phenotype Position of gene on chromosome = locus Alleles = different form of genes that exist (at a particular locus) Diploid two of every chromosome each gene is represented twice Same allele on both chromosomes = homozygous Different allele on each chromosome = heterozygous

Biology Exam Preparation Concepts:

Charissa Chandra

How does variation arise in a species? Offspring inherit one set of chromosomes from each parent, inheriting different alleles from the different chromosome pairs, thus making the offspring variant from the parent. The interaction of genotype and environment on the phenotype? Genotype are the genes that are expressed in the phenotype, but the environment can affect the way the genes are expressed e.g eating too much = obesity, working out = more muscle Benefit of twin studies? As twins have exactly the same genotype differences in phenotype must be attributed to environment. Able to show the effect of the environment on the phenotype of the body as well as diseases such as diabetes and measles. The role of meiosis in passing on the genetic material? Meiosis duplicates and splits up homologous pairs into 4 separate haploid chromosomes of two different types (if there is no recombination), which combine with a different haploid chromosome from the meiosis of the other parent, so that the offspring has a pair of chromosomes, consisting of a haploid chromosome from each parent to form the diploid number of chromosomes. The genetic determination of male and female? The X and Y sex chromosomes different combinations form different genders. Female are XX and male are XY. Patterns of Inheritance Dominant & recessive alleles: genes dominant overrides recessive in heterozygous condition P, f1, f2: parental generation, filial 1 and filial 2 generation. P is often two opposite homozygous, f1 heterozygous cross, f2 = 9:3:3:1

Mutations = sudden changes in the genes can be passed on to subsequent generations Mutations can cause different alleles to arise; spontaneous take place naturally Organisms which show effect of mutation in phenotype = mutant Genes = stable, replicate themselves exactly when nucleus divides; mutation = very rare Mutations are often a disadvantage to the organism not passed on as organism does not live to maturity to breed Mutagens = chemicals which cause mutations (poisonous): formaldehyde, DDT, nitrous acid, etc. High energy radiation radioactive decay causes mutation UV, x-rays, and rays Rate of mutation increases with temperature

UPPER CASE DOMINANT lower case recessive Monohybrid: one allele (characteristic) is dominant over the other Do a punnet square and find the ratios of genotypes and phenotype Incomplete dominance: neither trait is dominant and the f1 generation is a mix of the two parental characteristics: e.g red + white pure breeding flowers = pink flowers Co-dominance: both characteristics are shown, but not mixed: e.g red + white pure breeding flowers = red and white flower Multiple alleles: all can breed true though each cat can only contain a maximum of two alleles Sex-linked characteristics: allele is on the locus of the x chromosome where there is no homologous part on the y chromosome, thus males only have 1 copy of the gene. Thus, phenotype that is expressed is the one on the x chromosome. Characteristics are controlled by the genes found on the x chromosome.

Biology Exam Preparation

Charissa Chandra

Homologous section of chromosomes

Holandric genes: genes carried on y-chromosome Barr Body: condensed x-chromosome x-inactivation Carrier: heterozygous in sex-linked genes; does not show symptoms (humans = female) Kleinfelters Syndrome: Males have extra X chromosome (XXY) Turners syndrome: females have only one or missing part of x chromosome (XO females) Di-hybrid cross: Breed for two characteristics simultaneously characteristics must be simultaneously inherited Principle of Independent Assortment: way chromosomes sort themselves out independently during cell division by random chance e.g from LlAa LA, La, lA, la} equal chance of all four combinations Linkage: genes are linked if they are found on the same chromosome Test-cross: to determine linkage cross f1 generation (from two pure-breeding parents for alternative characteristics) with a pure-bred individual of recessive characteristics If genes are on separate chromosomes: ratio of phenotypes (1:1:1:1) [LlAa x llaa] la la la la LA LlAa LlAa LlAa LlAa La Llaa Llaa Llaa Llaa lA llAa llAa llAa llAa la llaa llaa llaa llaa

If genes are on the same chromosome: ratio of phenotypes (1:1) [LlAa x llaa] LA la la LlAa llaa la LlAa llaa *This ratio is rarely seen as small percentages of other combinations occur due to recombination

Recombination = crossing over (breaking and reunion) of chromosomes during meiosis enables different combinations of genes to occur on a chromosome Chromosome mapping: relative positions of genes on chromosomes can be determined by the amount of recombination between the two gene pairs Further apart the genes are on the chromosome, more recombination is likely to occur between them Results of test cross also reveal how frequently recombination has occurred Each unit distance = [unit]% chance of recombination 5 7.5

Polyploidy: Have 3 or more times the haploid number of chromosomes

Biology Exam Preparation Hybrid: offspring from parents with different characteristics Concepts:

Charissa Chandra

Origin of different of alleles? Mutation. This is very rare, however, as genes are very stable and replicate themselves exactly when a nucleus divides. Causes & consequences of mutation? Causes: Radiation (UV, X-rays, radioactive decay), mutagens (DDT, formaldehyde). Increase with temperature. Consequences: change in genes sometimes shown in phenotype, can form cancer. Can be passed on to subsequent generations, however very rare as mutations are often deleterious and organisms is not able to live to maturity (to breed). Gregor Mendel contributions, why were his crosses so successful? Contributions: identification of monohybrid crosses and the identification of dominant and recessive characteristics. Successful: controlled, restricted study to few characteristics, selected inherited characteristics to experiment and garden pea which produces large amounts of offspring, collected vast amounts of data. Role of crossing over during meiosis? Causes different combinations of genes on a chromosome as meiosis forms two matching haploid chromosomes, when genes are linked and then recombined this could cause small percentages of different combinations instead of 1:1 Gene technology & examples? Gene technology: range of activities concerned with understanding the expression of genes, taking advantage of natural genetic variation, modifying genes and transferring genes to new hosts e.g genetic screening, selective breeding, genetic modification or engineering (manipulation of DNA) Gene Action DNA and RNA is found in the nucleus of a cell Protein synthesis occurs on ribosomes in the cytoplasm of the cell If genes control protein synthesis DNA & RNA are involved DNA = double stranded molecule, double helix Two strands are held together by hydrogen bonds between complementary bases Two strands are antiparallel

4 nucleotides which contain sugar group, phosphate group, nitrogen base: adenine, cytosine, guanine, thymine RNA = single stranded, uracil instead of thymine, found in nucleus and cytoplasm Different combinations of nucleotides = different nucleic acid molecules AT & CG bonding Replication Ends of bases start to unzip with through helicase enzyme At bases where unzipping occurs, new complimentary bases come to bond to old strand through enzyme (DNA polymerase) semi-conservative old new Energy to bond to new nucleotides comes from splitting of bonds from two phosphate groups (backbone) RNA and Protein Synthesis Genes control formation of proteins (and enzymes) DNA = template for protein synthesis RNA = ribonucleic acid, DNA = deoxyribonucleic acid

Biology Exam Preparation Charissa Chandra mRNA = messenger RNA found in nucleus. Complement of DNA strand formed through reading by RNA polymerase. mRNA formed by nitrogen bases binding with an unravelled DNA strand = transcription mRNA travels to ribosome which contains ribosomal RNA (rRNA) 3 nucleotides = codon = code 1 amino acid Ribosome moves along mRNA, acts like pointer to appropriate tRNA Transfer RNA (tRNA) = anti-codon = carries an amino acid When tRNA with complementary bases line up to mRNA molecule, the amino acid that it carries joins to the others in line proteins = strands of amino acids

mRNA to tRNA = translation mRNA is read/ moves along ribosome in 5 to 3 direction therefore, reads DNA strand from 3 to 5 Mutations = changes (substitution), deletions (deletion), additions (insertion) in base sequence result in different amino acid sequences being formed Also: inversion (flip of triplet) and duplication Different sequence = non-functional protein or enzyme

Every cell in an organism contains the information required for entire organism Not all cells need all information some can be turned on and off when not required

When cells are not dividing, DNA is wound around proteins called histones 8 histones and 200 base pairs of DNA = nucleosome When histones are bound to DNA, enzyme allowing transcription into RNA cannot work Histones: pack DNA into smaller space and prevent transcription of DNA when DNA is not needed Chromosome puffing: swelling of DNA chain for transcription to occur DNA activation Concepts: What is DNA? A spiral, double helix molecule found in the nucleus of every cell of an organism which is made up of sugar groups, phosphate groups and nitrogen bases. DNA controls the bodys protein and enzymatic synthesis. What is the Structure of DNA? A sugar and phosphate backbone with nitrogenous bases bonded to each other through hydrogen bonding. The two strands of DNA are antiparallel. How does a gene determine the phenotype of an individual? Genes control protein synthesis. Different proteins and different enzymes change the phenotype e.g. skin pigment = protein, eye colour = protein. Genes (DNA) are read through transcription and translation to form amino acid chains and proteins. How is RNA involved in the process of protein synthesis? RNA transcribes the DNA into a message that is able to be read and coded into codons, which assemble associating amino acids into strands of proteins.