BIMM 110 - Lecture1-2_000

BIMM 110- - BIMM110 Molecular Basis of Inherited Human Disease Instructor Suresh Subramani TAs Shveta Jain Jenny Cheng Alan Naim Website

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BIMM110 Molecular Basis of Inherited Human Disease Instructor: Suresh Subramani TAs Shveta Jain Juliana Chang Jenny Cheng Lauren Mack Alan Naim Website http://www.biology.ucsd.edu/classes/bimm110.SP08/subramani/ • username: bimm110sp08 • password: Humdisease Website and Course Text Website - has the following information General Info Exams, Grades, Regrades, Cheating Text - Recommended, but not required text -An Introduction to Human Molecular Genetics – Mechanisms of Inherited Diseases, Jack J. Pasternak, Second Edition, Wiley-Liss, 2005. Sections - Papers, problem sets and assigned readings Instructor, TA and Project Assistant contacts Syllabus Lecture Notes will be provided as pdfs on the website before the class Online Section Signup Sign up online at http://sections.ucsd.edu/ Pick one of 6 sections. You must be enrolled in course by 8 am that day to be able to sign up. You will need your PID to enroll. Sections start Mon of Week 1. Go to another section this week if you sign up for a Monday section or miss a section. Sections will discuss papers, problem sets and assigned readings that will complement class materials. 10-15% of exam questions will be directly related or similar to problems discussed in sections. Types of human diseases Infectious Inherited Environmental
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Historical perspective Types of inherited diseases Single gene disorders (over 1600 known currently) Chromosomal disorders Multi-factorial disorders (including diet and environment) Human Diseases Earliest Inherited Diseases Alkaptonuria - Inborn Error of Metabolism 1865 Mendel’s laws of inheritance 1876 Robert Koch and Louis Pasteur discover bacterial infections 1892 First plant virus followed by animal and human viruses 1900 De Vries, Correns and Tschermak rediscover Mendel’s laws 1901 Landsteiner discovers human ABO blood groups 1905 Farabee deduces first autosomal dominant trait, polydactyly 1908 Garrod describes first inborn error of metabolism 1908 Hardy and Weinberg show independently that gene and genotype frequencies are stable over generations in large, interbreeding populations 1910 Weinberg determines methods for determining Mendelian inheritance from small pedigrees 1953 Watson and Crick discover structure of DNA 1955 Morton devises LOD score method for human linkage mapping 1957 Ingram establishes that sickle cell anemia is caused by a singe amino acid change in hemoglobin 1968 McKusick publishes first edition of Mendelian Inheritance in Man 2003 Human genome sequenced Historical landmarks in our understanding of human diseases
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This database, established in 1966 by Victor McKusick, is a catalog of human genes and genetic disorders http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim Contains information about each disease Gene affected and chromosome location Clinical features Molecular genetics Population genetics Animal models History References Links OMIM (Online Inheritance in Man) Human have 23 pairs of chromosomes in diploid cells. Longest chromosome by microscopy is Chromosome 1.
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This note was uploaded on 04/13/2008 for the course BIMM 110 taught by Professor Mcginnis during the Spring '08 term at UCSD.

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BIMM 110- - BIMM110 Molecular Basis of Inherited Human Disease Instructor Suresh Subramani TAs Shveta Jain Jenny Cheng Alan Naim Website

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