GN 301 Genetics in Human Affairs Exam 1 Review PDF

GN 301: Genetics in Human Affairs No Sound on this File! Review for Test #1  Exam Day Note You are required to take all exams at DELTA Testing Services or your approved remote proctor. You must have an appointment to test at DELTA and must set up the appo...

GN 301: Genetics in Human Affairs No Sound on this File! Review for Test #1  Exam Day Note You are required to take all exams at DELTA Testing Services or your approved remote proctor. You must have an appointment to test at DELTA and must set up the appointment at least 4 hours prior to your exam. The exam is on Moodle You may need a calculator on this exam. Please have one handy before you start the exam. You are allowed one attempt on the exam. You have 60 minutes to complete the exam after you open the file. Please read the syllabus regarding exams and make up exams  Material Provided on Exam 1 Second Position (5'-end) U C A G UUU UCU UAU UGU U phe (F) tyr (Y) cys (C) UUC UCC UAC UGC C U ser (S) UUA UCA UAA UGA Stop A Stop UUG UCG UAG UGG trp (W) G CUU CCU CAU CGU U Third Position (5'-end) First Position (5'-end) leu (L) his (H) CUC CCC CAC CGC C C pro (P) arg (R) CUA CCA CAA CGA A gln (Q) CUG CCG CAG CGG G AUU ACU AAU AGU U asn (N) ser (S) AUC ile (I) ACC AAC AGC C A thr (T) AUA ACA AAA AGA A lys (K) arg (R) AUG met (M) ACG AAG AGG G GUU GCU GAU GGU U asp (D) GUC GCC GAC GGC C G val (V) ala (A) gly (G) GUA GCA GAA GGA A glu (E) GUG GCG GAG GGG G This version of the coding dictionary on the exam. It will be at the beginning of the exam, prior to the first question. If you are asked for the name of an amino acid, you may give the 3 letter abbreviation for the amino acid instead of the full name. If you are asked for the 1 letter abbreviation, you do need to give the 1 letter abbreviation  Purpose of these Review Slides The purpose of these slides is to remind you of major vocabulary and topics in the material for Exam 1. The review is not included as part of the guided notes. You should print off these slides and incorporate them with your guided notes as you study for the exam. It is NOT to list all questions and/or vocabulary that will be on the exam, but it should give you some guidance as you study for the exam You are expected to study all material covered in Modules 1, 2, and 3 of this course  Introduction (Lectures 1 – 3) Define and appropriately use vocabulary including Allele, Phenotype, Genotype, Homozygous, Heterozygous, Dominant, Recessive, Carrier, DNA, Mutation, Karyotype, Gene Therapy, Genetic Counseling Describe disorders and their genetic basis including Huntington’s Disease, Sickle Cell Anemia, Cystic Fibrosis, Osteogenesis Imperfecta, and others mentioned in lecture If a disorder is dominant, how many copies of the disorder allele does someone need to have the disorder? If a disorder is recessive, how many copies of the disorder allele does someone need to have the disorder? Describe some areas where the fields of genetics and public health intersect Discuss ethical and public health issues involving gene therapy and genetic testing  Lecture 4: Cell Types and Components Identify the major components of the cell and their functions including the nucleus, mitochondria, ribosomes, endoplasmic reticulum (smooth and rough), Golgi apparatus, plasma membrane, and lysosomes Relate specific disorders to alterations in genes that affect specific cell parts including Leber’s disease, Long Q-T Syndrome, Cystic Fibrosis, and Tay Sach’s disease  Lecture 5: Chromosomes and the Cell Cycle Identify chromosomes by centromere location. Be able to distinguish between chromatids and chromosomes and relate the number of each present to stages in the cell cycle and mitosis and meiosis. Describe the stages in the cell cycle and relate these to chromosome structure. Describe a Karyotype: How are chromosomes organized in a karyotype? What can we learn from a karyotypes? How many chromosomes are present in a normal human’s somatic (body) cell? Describe chromosome preparation procedures and the FISH technique  Lecture 6: Mitosis and Meiosis Describe the steps in mitosis and meiosis Be able to compare mitosis and meiosis Describe the importance of meiosis in providing variation from generation to generation (through crossing over and shuffling maternal and paternally derived chromosomes) Define and appropriately use vocabulary such as mitosis, meiosis, the stages of mitosis and meiosis, reductional division, equational division, crossing over (recombination), synapse Meiosis I Meiosis II (reduction (equational division) division) Diploid Haploid  Two Biological Goals of Meiosis Produces gametes that contain a haploid number of chromosomes (23 chromosomes/gamete) – Alternation of meiosis and fertilization maintains constant number of chromosomes from generation to generation Provides variability from generation to generation 1. Shuffling of maternal and paternal chromosomes (223 = 8,388,608 possible combinations in humans) 2. Crossing over allows each chromosome to contain some maternal and some paternally derived alleles Lecture 7: Gametogenesis, Nondisjunction and Fertilization Know the cell types in oogenesis and spermatogenesis and where these processes occur Compare oogenesis and spermatogenesis Relate gametogenesis to meiosis using proper vocabulary and recognizing the number of chromosomes present in each cell type. Nondisjunction: What is it? When does it occur? What are the results of nondisjunction. Be able to define and appropriately use vocabulary such as fertilization, syngamy, corona radiate, zona pellucida, acrosome and vocabulary used in early development, zygote, fetus, embryo, and others Describe the male and female anatomy at the level in the lecture Be able to describe early embryonic development using appropriate vocabulary Nondisjunction in Meiosis  Lecture 8: Prenatal Testing and IVF Be able to describe various prenatal tests, the process involved and the information that can be obtained from each (CVS, amniocentesis, cell-free fetal DNA testing Describe situations where someone might choose to use IVF Describe guidelines for number of embryos implanted in IVF  Lecture 9: DNA, RNA and Chromatin Structure Describe the classic experiments that led to the structure of DNA and know who conducted the experiments and the techniques they used. Molecules: Describe structure and components of DNA and RNA and compare the differences between them. You will not need to draw them, but may need to label drawings Know the names of the bases, not just A, T, C, G, and U Define and appropriately use vocabulary such as complementary base pairing, hydrophobic interactions, antiparallel, plectonic, etc, and relate these to the Watson-Crick model of DNA Identify the direction of coiling of a helical item (right or left handed coil) Define Chromatin and Histones and relate these to chromosome structure.  Lecture 10: DNA Replication Describe the Meselson and Stahl experiment that determined DNA replication is semiconservative Identify leading and lagging strands and the location of Okazaki fragments on diagrams Describe why Okazaki fragments are important in replication DNA polymerase joins the nucleotides with phosphodiester bonds so that the new chains are antiparallel and complementary to the old chains in bidirectional replication from many origins along the length of the chromosome DNA is produced from 5’ to 3’ Describe why RNA primers are needed Describe the need for and role of telomerase in replication  Lecture 11: Transcription, RNA types, mRNA Processing Describe differences between DNA and RNA Describe that RNA polymerase joins nucleotides by phosphodiester bonds so that the RNA is antiparallel and complementary to the template strand of DNA and that RNA is produced from 5’ to 3’ The other strand of DNA is the coding strand. It has the same base sequence as the RNA except DNA has thymine and RNA has uracil Describe the roles of the RNAs types mentioned: mRNA, tRNA, rRNA and snRNA and the full names of their abbreviations Describe the architecture of a gene including vocabulary such as promotor, exon and intron Describe the importance of splicing the primary transcript to make the mature mRNA  Lecture 12: The Genetic Code and Translation Describe the properties of the genetic code with examples Degenerate, unambiguous, start and stop punctuation Be able to use a coding dictionary to translate mRNA Describe the process of translation using appropriate vocabulary Codon, anticodon, ribosome, peptide bond, release factor Given a DNA sequence, be able to make mRNA Given an mRNA sequence, be able to make protein  Example: Translate mRNA The sequence of the mRNA is given below: 5’ – U A A U G G G G A C A C U A U A G A A – 3’ What is the sequence of the protein made from this mRNA sequence? Example: Translate mRNA (Answers) The sequence of the mRNA is given below: 5’ – U A A U G G G G A C A C U A U A G A A – 3’ What is the sequence of the protein made from this mRNA sequence? 5’ – U A A U G G G G A C A C U A U A G A A – 3’ Met - Gly - Thr - Leu  Lecture 13: Regulation of Gene Expression and Epigenetics Be able to diagram and describe the function of parts of a eukaryotic gene Promotor, Intron, Exon, others What are microarrays (gene chips)? What can they be used for? Define Epigenetics alteration in gene expression without alteration in DNA sequence What types of changes are epigenetic changes? Modification of DNA (methylation of Cytosine) Modification of Histones including acetylation of the histone tails What are histones? Modifications can be inherited  Lecture 14: DNA Sequencing, HGP, GINA Describe the difference in structure between deoxyribose and dideoxyribose and explain the theory behind the Sanger sequencing reaction Describe the major participants in the HGP and the different approaches used Map based v Shotgun sequencing approaches Describe potential uses of DNA sequence data 1000 genomes project and 100,000 genomes project Other uses Describe concerns with sequencing an individual’s DNA Describe the provisions and limitations of GINA  Additional Study Materials Each module contains a file of review questions. You are encouraged to answer these questions and use them to aid you as you study for the exam Your completed guided notes are an excellent study tool.  Final Thoughts….. I hope you do well on Exam #1!