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Introduction \ Learning Objectives: After this chapter, the students need to be able to do the following. 1. Explain molecular biology and molecular diagnostics in a generic way. 2. Recognize the common application of Molecular testing. Genome and Chromosomes Learning Objectives: After this chapter, the students need to be able to do the following. ba OWONOOS . Discuss the protein coding DNA, regulatory elements, and unique DNA present in the human genome. Describe the types of repetitive DNA sequences found in the human genome, including their composition, and function. Define: gene, chromosome, homologous chromosome, karyotype, locus, gametes, somatic cells, alleles, autosomes, sex chromosome, homologous chromosomes Identify sex chromosomes specific to male and females. Describe the difference between X and Y chromosome including relation to diseases. Describe the major steps of the cell cycle. Compare and contrast the function and steps of mitosis and meiosis. Identify and describe aneuploidy, deletion, translocation, and isochromosomes. Describe how genetic diversity arises during meiosis including independent assortment and crossing over (recombination) | | = SSS se LSS ESSE pron 5 = = —— == —= = Se Se | Pattern of single-Gene Inheritance Learning Objectives: After this chapter, the students need to be able to do the following. bd ale CONDA . Discuss the concepts of genotype, phenotype, haplotype, single gene disorders, homozygous, heterozygous, and hemizygous. Characterize single gene disorders in terms of their effect on children vs. post-puberty adults. Discuss the phenotypic effects of pleiotropy, penetrance and expressivity. Explain the Mendelian concepts in genetics: autosomal, X-linked, dominant, X-linked recessive, pure dominant, incomplete dominance, and codominant. Define consanguinity and then explain the relation to recessive disorder frequency. Describe the function and characteristics of a pedigree. Identify common symbols used in a pedigree (Symbol list will be provided in the exam). Discuss the limitations of pedigree analysis. Given parental genotype/phenotype information, calculate frequencies of unaffected, affected and carrier offspring or expected normal genotype/phenotype. 10. Analyze and interpret pedigrees that demonstrate typical autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant inheritance patterns. 23 Codominant Pure dominant Pattern of inheritance in ABO blood type Genotype and Phenotype of ABO blood type Practice different combination of parents and their offspring for ABO blood types Practice on a different paper Autosomal Recessive Inheritance pattern Homozygotes Heterozygotes Practice calculating the chance to have affected phenotype from different combination of parents genotype Practice how to look at Pedigree -Practice on a different paper -Practice on a different paper Autosomal Dominant Inheritance pattern Describe the pattern Practice calculating the chance to have affected phenotype from different combination of parents genotype Practice how to look at Pedigree -Practice on a different paper -Practice on a different paper Why there are more X-linked inheritable disease than Y-linked inheritable disease? X-Linked Recessive Inheritance pattern Genotype and Phenotype characteristic Male vs female offspring tendency Practice calculating the chance to have affected phenotype from different combination of parents genotype Practice how to look at Pedigree - Practice on a different paper -Practice on a different paper X-Linked Dominant Inheritance pattern Genotype and Phenotype characteristic Male vs female offspring tendency Practice calculating the chance to have affected phenotype from different combination of parents genotype Practice how to look at Pedigree - Practice on a different paper -Practice on a different paper 37 Basic Nucleic Acid Chemistry: DNA Learning Objectives: After this chapter, the students need to be able to do the following. Describe the structure of DNA. Identify nitrogen containing bases found in DNA and separate into two types. Define nucleic acids and explain the relationship between nucleic acid and nucleotides. List the components of nucleotides. Define purine and pyrimidine. List the nitrogen bases. Diagram the structure of nitrogen bases, nucleosides, nucleotides, and nucleic acid. (You do not have to be able to draw the exact chemical structure). Name the groups at 5’ and 3’ end of DNA. Describe the formation of polynucleotides, identify phosphodiester bond and hydrogen bond. 8. Describe the double helix structure of DNA. 9. Distinguish nucleotide and nucleoside. 10. Discuss Chargaff’s rule. 11.Demonstrate how deoxyribonucleic acid (DNA) is replicated. Define leading, lagging strand, Okazaki fragment. 12. State the directionality of the template and the daughter strand for both leading strand and lagging strand. 13. Explain formation of the phosphodiester bond catalyzed by DNA polymerase. 14. List the enzymes involved in DNA replication and metabolism and state their functions. 15. Describe restriction enzymes. 16. Define oligonucleotides (oligos). ss. 17.Discuss the following DNA manipulation in bacteria: conjugation, transduction, and : transformation QRON> N@ 39 ee a, . ee Wl ne Enzymes used in DNA replication & function Helicase- unwinds DNA helix Wrimase = Synthegizes RNA priors ligase ~ Seals gap velween Glazaleli Tops i Stmerase = Velieves supercoiling Restriction enzyme - Origin - What they do? ~ Naturally ie in bactevid - wWrDNA at specific re comp thon Sch =p 5 batten Pilymerase = adds nucleotides (5’>B) DNA manipulation in bacteria “fan formaton uptalce oF naked DNA from enviroments (LOS igh Ng “ comjugatton > DNA transfer thrqug é , ‘rane Dna transter v ca hattevisphages 52 Basic Nucleic Acid Chemistry: RNA Learning Objectives: After this chapter, the students need to be able to do the following. Compare and contrast the structures of DNA and RNA. List different types of RNA and state their functions. Define the following: coding strand, noncoding strand, complementary strand Describe the processes of transcription from initiation to termination. Distinguish between monocistronic and polycistronic in MRNA. Name the transcription enzyme and describe transcription apparatus, state the function of transcription factors. State the directionality and the rule of base-paring. Define exon and intron. Describe post-translational processing of pre-mRNA: capping, polyadenylation, splicing. 0. State the function of ribonucleases and its significance in a laboratory setting. POP ON geen 53 Transcription process ns 2. Monocistronic Polycistronic Post-transcription process -What is it? -Capping -Polyadenylation -Splicing Exon Intron What kind of special care is required when you work with RNA? Proteins Learning Objectives: After this chapter, the students need to be able to do the following. Explain the relationship between proteins and amino acids. Describe the general structure of amino acids. Describe peptide bonds Describe the four levels of protein structure. Define denatured proteins Define and describe the properties of codons. List start and stop codons. Describe the process of amino acid charging . Define anticodon 10. Explain wobble. 11.Describe the process of translation including tRNA charging, ribosome interaction, initiation, elongation and termination. 12. State the central dogma of molecular biology. CONOAAONS ee es oe eee Ribosome function at each place -Small subunit -Large subunit -Asite -Psite -Esite Translation process: Initiation Translation process: Elongation Translation process: Termination Polysome Protein folding Central dogma 76 Gene Expression Learning Objectives: After this chapter, the students need to be able to do the following. 1. Discuss repression, activation, and attenuation in Bacteria as examples of mRNA regulation. Define operon, promoter, repressor, activator, and inducer. List the regulation mechanism of gene expression in eukaryotes Describe the structure of human chromosomes and how they are organized Discuss how DNA interacts with them to form the nucleosome. Describe histone modification as it relates to gene expression. Explain nucleic acid methylation and its effect on gene expression. Explain gene expression regulation by specific transcription factors and give one example factor. 9. Define alternative splicing 10. Discuss gene regulation by microRNAs, small interfering RNAs (siRNA) and long non- coding RNAs (IncRNA). DEA OLN 77 
