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Topic8 - HLTH 101 Fall 2011 T OPIC 8 INNATE FACTORS IN THE...

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HLTH 101 Fall 2011 TOPIC 8: INNATE FACTORS IN THE HUMAN BODY AND HEALTH: GENETIC DISEASES In the first part of this course, we familiarized ourselves with the concepts underlying infectious diseases in humans. We saw that infectious diseases were caused not only by microbes that exist in humans, but by the relationship between microbes and humans within an ecological context, and that understanding this context can lead to insights regarding causes, pathogenesis and, as we’ll see in future lectures, treatment and prevention of infectious diseases. In this part of the course, we will familiarize ourselves with the concept of innate factors in human diseases. By innate, we mean factors that are present in our bodies throughout our life, beginning at conception, factors that we commonly refer to as genetic factors. Because these are so-called “innate” factors, we may think that they lead to diseases and conditions that are somehow fixed and not modifiable. As we study them, however, we’ll see that we have made great inroads, in the past, in the treatment and prevention of these diseases and conditions. As in the first part of the course, we’ll see that knowledge of the past can enlighten us as to the approaches we may take in the future in our attempt to ameliorate the effects of these problems. RECOMMENDED READINGS “An Introduction to Genetic Analysis” is a textbook available online at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=iga It provides a good introduction to genetics for those of you who need a primer. You can’t browse the book, but you can type keywords into the search box at the top of the webpage. The website “Genes and Disease”, by the National Center for Biotechnology Information, is a good but brief source for general information on specific genetic diseases such as SS disease, PKU and HD. This is the link to the website:
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HLTH 101 Fall 2011 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd Once you get into the site, just type in the name of the disease in the search box at the top of the page. “Online Mendelian Inheritance in Man”: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim is another good site for information, but it will have more detail than you require for this course. Still, you should bookmark it if you expect to be searching for information about a particular genetic disease. LECTURE NOTES BASIC PRINCIPLES OF GENETICS 1/ NUCLEIC ACIDS — there are 2 nucleic acids i. deoxyribonucleic acid (DNA) ii. ribonucleic acid (RNA) — each consists of polynucleotide chains of nitrogenous bases on a backbone of sugar-phosphate links — there are 2 classes of nitrogenous bases: i. purines — adenine & guanine (A & G) ii. pyrimidines — cytosine (C) & thymine (T) (found in DNA) (or) cytosine (C) & uracil (U) (found in RNA) 2/ GENES — genes are the basic entity of hereditary information — genetic code: sequences of the nitrogenous bases described above — 3 adjacent bases form a codon — each codon codes for a specific amino acid — thus, there are 64 possible codons
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