Study guide for the second midterm exam, BME 80H, The Human Genome The exam will cover material presented in lectures 6-11. Material for the exam will be taken from information within the categories noted below. I may not use every single category in the exam. Keep in mind that the depth of detail to know in each category is based on the information I presented in class. The exam is based on the lectures. From lecture 6Understanding and interpreting Human PedigreesDuchenne Muscular DystrophyLate onset inheritance (include info on Huntington’s Disease and Porphyria)Penetrance and ExpressivityTemperature effect on gene expression From lecture 7Definition, characteristics and expected inheritance patterns concerning polygenic traitsThe additive model for polygenic inheritanceDefinition and characteristics of multifactorial traitsMultifactorial threshold traitsDefinition and calculation of heritability (include correlation coefficients)Biology of twinsTwin studies (measuring concordance)The Leptin pathway and obesity From lecture 8Be able to write the correct nomenclature for a chromosomal bandKnow cytogenetics terms and tools used to characterize chromosomesBe able to recognize different kinds of chromosomal aberrations apparent in karyotypesCompare and contrast Amniocentesis and Chorionic Villus SamplingCompare female and male meiosisPolyploidy: what it means, whether it is a viable condition in humans and how it arisesAneuploidy: what it means and how it arisesAutosomal aneuploidies (including Down’s syndrome and Patau’s syndrome)Aneuploidy of the sex chromosomes (Turner’s, Klinefelter’s and XYY syndromes)Types of aberrations of chromosome structure (deletions, insertions, inversions, translocations)Prader Willi Syndrome and genomic imprintingCompare Reciprocal and Robertsonian TranslocationKnow the gametes expected from meiosis in a translocation carrier.Why mother’s age is a risk factor for trisomies. From lecture 9Homogametic and heterogametic sexes in humansDuct systems involved in male and female developmentSeries of steps in male development (handout)What situation results in the embryo developing into a female?Androgen Insensitivity5-alpha reductase deficiencyRole of the SRY (TDF) gene; what occurs in XX males and XY femalesX inactivation, definition and how and when it occurs. Clonal patches.Sex influenced traitsGenomic imprintingFrom lecture 10Atoms, molecules and covalent and hydrogen bondsNucleotide structure (know the parts and how they differ in DNA/RNA)5′ and 3′ ends of a strand of nucleic acidDouble helix structure (sugar-phosphate backbone, base paining rules, antiparallel chains)What DNA and RNA stand for.Secondary structure in RNA (e.g. stem-loop)Chromosome structure: chromatin, histones, and nucleosomes.When, in the cell cycle, the chromosomes are most highly condensed. From lecture 11General mechanism of DNA replicationReplication enzymes, role of the origins (Oris)Semiconservative nature of replicationReplication occurs in S phaseCentral Dogma of Molecular GeneticsSubunits of RNA and proteinCellular locations of replication, transcription and translationKey points about transcription (from outline)Gene structure basics and the basics about regulation of transcription initiation