Lecture Notes: Introduction to Molecular Biology & Human Genetics PDF

Vision Collage of Medicine Year 2 Level 3 Lecture 1 Introduction to Molecular Biology and Human Genetics by Dr.Ezat Mersal  Objectives ⦿ By the end of...

Vision Collage of Medicine Year 2 Level 3 Lecture 1 Introduction to Molecular Biology and Human Genetics by Dr.Ezat Mersal  Objectives ⦿ By the end of this lecture, students can able to know: What is this course about? What are the topics that will be taught? How will the topics be taught? How students are assessed?  Molecular Biology Is a branch of biological science that deals with the structure and function of the macromolecules (e.g. proteins and nucleic acids) essential to life. Is the study of biology at a molecular level. © 2015 John Wiley & Sons, Inc. All rights reserved.  Gene ⦿ The DNA that makes up the human genome can be subdivided into information bytes called genes. ⦿ Each gene encodes a unique protein that performs a specialized function in the cell. © 2015 John Wiley & Sons, Inc. All rights reserved.  Central Dogma of Molecular Biology Gene Expression: is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce protein as the end product Central Dogma of Molecular Genetics  From Genes to Proteins DNA Gen mRNA Protein Ulf Schmitz, Introduction to molecular and cell biology 7  Genetics Genetics is the study of gene : What they are ????? What they do, ??????? How they work ???????  Genetics continued “Genetics is the study of heredity, the process in which a parent passes certain genes on to their children. What does that mean ? Children inherit their biological parent’s genes that express specific traits, such as some physical characteristics, natural talents, and genetic disorders. Heredity: The tendency offspring to resembles their parents Variation: The tendency of offspring to vary from their parents  Genetic Concepts ⦿ Heredity describes how some traits are passed from parents to their children. ⦿ The traits are expressed by genes, which are small sections of DNA that are coded for specific traits. ⦿ Genes are found on chromosomes. ⦿ Humans have two sets of 23 chromosomes—one set from each parent. ⦿ a locus (plural loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. ⦿ The genome of an organism is its complete set of DNA. ⦿ Mutation is a permanent, heritable change in the nucleotide sequence or the process by which such a change occurs in a gene or in a chromosome.  Mendelian Inheritance 1. The inherited traits are determined by genes that are passed from parents to children. 2. A child inherits two sets of genes—one from each parent. Each person has 2 copies of every gene—one copy from mom and a second copy from dad. These copies may come in different variations, known as alleles, that express different traits. 3. A trait may not be observable, but its gene can be passed to the next generation.  Terminology in Relation to Genetics Gene—basic unit of inheritance nucleus chromosome Chromosome- Part of a cell that contains genetic information Locus—location of a gene on a chromosome Allele—different forms of a gene cell Genotype—alleles found at a locus Phenotype—physically observable Homozygote—alleles at a locus are the same Heterozygote—alleles at a locus are different base pair (double helix) Polymorphism. When a specific site on a chromosome has multiple alleles in the population DNA Dominant—requires only one copy of the mutation to produce disease Recessive—requires two copies of the mutation to genes produce disease  Student’s guide ⦿ Student’s guide  References ⦿ Feng, P., Ding, H., Yang, H., Chen, W., Lin, H., & Chou, K. C. (2017). iRNA- PseColl: identifying the occurrence sites of different RNA modifications by incorporating collective effects of nucleotides into PseKNC. Molecular Therapy-Nucleic Acids, 7, 155-163. ⦿ Liu, B., Wu, H., & Chou, K. C. (2017). Pse-in-One 2.0: an improved package of web servers for generating various modes of pseudo components of DNA, RNA, and protein sequences. Natural Science, 9(04), 67. ⦿ Recommended reading: ⦿ Jorde, Carey, Bamshad and White. Medical Genetics, 3rd edition. ⦿ Lippincott’s biochemistry, 6th edition. ⦿ Recommended electronic resources: http://www.genome.gov/glossary.cfm http://www.ncbi.nlm.nih.gov/genome/ http://www.ncbi.nlm.nih.gov/omim/  REFERENCE BOOKs ⦿ Basic genetics : a human approach / BSCS. Dubuque, IA, Kendall/Hunt Pub. Co., c1999. 147 p. QH431.B305 1999 ⦿ Genes, ethnicity, and ageing. Edited by Lincoln H. Schmitt, Leonard Freedman, Rayma Pervan. Nedlands, Australia, Centre for Human Biology, University of Western Australia ; Singapore, River Edge, NJ, World Scientific, c1995. 100 p.QH455.G45 1995 ⦿ Genetic polymorphisms and susceptibility to disease. Edited by M. S. Miller and M. T. Cronin. New York, Taylor & Francis, 2000. 266 p.