Genes and health

Amino acids: Protein folding name bonds in each type What 3 groups are in amino acids? Primary What process joins them together? Secondary - Alpha helix and Beta pleated sheet, What process breaks them apart? hydrogen bonding Primary structure is sequence of amino Tertiary acids. Different properties of R groups Quaternary An example being haemoglobin determine properties of polypeptide, causing folding. Membrane structure: Phospholipid bilayer, hydrophobic tails and hydrophilic heads Mosaic provided by glycoproteins (in one layer or both). Cholesterol to limit fluidity. Functions of proteins signaling and recognition, enzymes, transport. Enzymes: Describe the method for a core practical increasing enzyme amount Enzymes have properties of catalysts but are also protein. Physical contact required between active site and substrate Induced fit theory substrate fits active site a bit, then induces it to fit better as it binds Lock and key hypothesis links shapes of substrate and active site Specificity of enzymes explained by shape of active site. Activation energy energy needed to start a reaction. Enzymes reduce activation energy needed to normal body conditions.

Genes and health

Lungs: Alveoli provide large SA, circulation of blood and breathing maintain diffusion gradients, really thin layer of cells in alveoli. Osmosis: Define osmosis Can you explain what happens to water in cells in high and low outside cellular concentrations? DNA replication Replication is copying of DNA. Compare it with transcription.......... Semi conservative each new DNA molecule has one old strand and one new strand. Controlled by DNA polymerase Transport in cells: Diffusion movement of particles from higher to lower concentration. Facilitated diffusion channel proteins, Still passive, can allow control when only certain particles allowed through. Active transport active, required energy from ATP provided by cell. Uses carrier proteins in membrane, against diffusion gradient. Exocytosis and endocytosis bulk transport out and in. Vesicles form inside cell and fuse with membrane to transport out. Requires energy so active

DNA: Name the four bases in DNA correctly spelt Complementary bases pair A-T, (A-U in RNA), C-G H-bonds between bases links two polymer strands together to form double helix in DNA.
Transcription and translation: What starts or stops transciption? Write 5 steps to describe the process, use the words mrna, nucleotide, cytoplasm, trna , codon, anticodon, nucleus.

Genes and health

Gene therapy Define germ line and somatic. Normal copies of the gene inserted into cells that need to express it (eg lining of lung). Inserted gene is transcribed and translated, and functioning protein is produced. Can use virus particles or liposomes to get gene into cells Genetic testing Test potential parents to see if they have a recessive mutation. Allows assessment of risk. Testing embryo or foetus amniocentesis samples fluid around foetus containing some foetal cells. Done at 15-17 weeks, 1% risk. CVS sample placenta which includes foetal cells. Done at 8-12 weeks, 1-2% risk. PIGD Done using IVF, cell from embryo taken at 8-16 cell stage, tested and only implanted in uterus if found to be normal. Expensive and unreliable. Genetics stuff Genotype alleles present whether expressed or not. Phenotype observable effect of the genotype (what it looks like). Allele possible form of a gene. Recessive allele expressed only when homozygous. Dominant allele expressed whenever present. Homozygote individual possessing only one type of allele for a gene (eg FF, ff). Heterozygote individual having different alleles for a gene (eg Ff) (85). Monohybrid inheritance pattern of a single gene. Remember genotypes of individuals have two letters (alleles), gametes are haploid and only have one. CF recessive, normal is dominant. Know about yellow and green, tall and short peas.