UT Arlington NURS 3366 - Week 1 notes Genetic Influence in Disease (10 pages)

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Week 1 notes Genetic Influence in Disease



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Week 1 notes Genetic Influence in Disease

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Pages:
10
School:
University of Texas at Arlington
Course:
Nurs 3366 - Pathophysiologic Processes: Implications for Nursing
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Nursing 3366 Pathologic Processes Implications for Nursing Genetic Influence in Disease 1 Pay attention to the objectives in all the lecture notes much of the tests content is geared towards them they give you areas DESCRIBE DISCUSS IDENTIFY to focus on various multifactorial genetic disorders pathophysiology of basic chromosomal problems such as Down s single gene alterations resulting in protein synthesis defects and their relationship to disease processes symptoms such as sickle cell anemia polycystic kidney disease hemophilia some therapeutic uses of recombinant DNA Objectives outcomes NOTE Usually you are expected to come fully prepared with A P knowledge by reviewing Prep ahead of time so that we can dive right into the patho For this first day however we will quickly go over a couple of key things that you will need to understand the main lecture Hopefully you will remember some of this from A P classes 1 Gene definition and function a Definition of a gene a segment of a DNA molecule that is composed of an ordered sequence of nucleotide bases adenine guanine cytosine thymine b Main functions of genes coding for synthesis of proteins that influence all aspects of body traits and function 1 Examples of these include permanent proteins such as eye pigment hair color and blood type in a developing fetus as well as more subtle inherited traits like outgoing personality or susceptibility to certain diseases 2 There are also day to day functional proteins such as hormones antigens antibodies enzymes etc c When there is a mutation of a gene the protein it is responsible for often malfunctions 1 You can have a pretty good idea of what type of disorder S S occur when you understand this pathologic process 2 Ex if the gene that codes for lactase becomes mutated what might happen 2 Packaging of genes chromosomes a The DNA helix containing genes goes through many shapes during the cell life but at one point takes the shape that we are most familiar with the rod shaped body in the nucleus of cells called a chromosome 1 To summarize a sequence of nucleotide bases forms a gene genes make up a DNA molecule and that DNA molecule forms into a specialized shape called a chromosome 2 A chromosome can be thought of very simplistically as a string of multipurpose beads with the beads being genes b A person receives 23 chromosomes from each parent so you end up with 23 pairs or a total of 46 1 22 pairs are autosomal ie NOT sex chromosomes and each pair is closely alike 2 The other pair is the sex chromosomes XX or XY 3 2 For purposes of study they can be arranged in a karyotype a picture ex chromosome 1 from mom is matched up with chromosome 1 from dad c Autosomal chromosome pairs 1 22 1 For these pairs each has genes that closely match partners on the other chromosome 2 Partner genes have the same location locus on each respective See page 6 chromosome code for the same trait and are called a of Blueprint pair of alleles 1 for more 3 A pair of alleles are almost exactly alike except that one can be info on understandi dominant one can be recessive or they can both be dominant or ng both be recessive genotypes 4 We notate recessive genes with a lower case letter a dominant Punnett gene as an upper case letter a The combinations are called genotypes represent what was inherited from mom dad b Examples of various combinations randomly using the letter g can be GG homozygous dominant gg homozygous recessive Gg heterozygous d There is one pair of sex chromosomes 23 which work very differently There is info on them on sex linked disorders later in these notes but you won t be tested on that info e If a geneticist is trying to figure out the percent chance of two people with certain genotypes having a child with certain genetic characteristics a Punnett square is often used Note you must understand be able to do Punnett squares for the exam Outline for Lecture II Genetic disorders A Overview 1 definition of genetic disorders 2 categorizing genetic disorders 3 mitochondrial DNA disorders 4 multifactorial 5 chromosomal 6 single gene B Single gene disorders 1 overview categories autosomal recessive autosomal dominant sex linked 2 autosomal recessive a overview b example of autosomal recessive disorder sickle cell anemia 3 autosomal dominant a overview b example of autosomal dominant disorder polycystic kidney disease C 4 sex linked Recombinant DNA a form of genetic engineering 3 II Genetic disorders A Overview 1 broad definition of genetic disorders a disease caused by abnormalities in an individual s genetic material 2 there are several ways of categorizing genetic disorders a inherited vs spontaneous 1 example of inherited disorders sickle cell disease is caused by an inherited altered AKA mutated gene see below 2 example of spontaneous high level of exposure to radiation causes a mutation in a gene becomes an oncogene which causes rapid wild proliferation of cell growth skin cancer develops b other ways to categorize include using the following four groupings disorders of mitochondrial DNA multifactorial chromosomal singlegene 3 mitochondrial DNA disorders a majority of DNA is found in nucleus of cells but small bits of DNA are also found in mitochondria b disorders of this DNA are very uncommon won t be discussed 4 multifactorial genetic disorders combination of environmental triggers and variations mutations of genes plus sometimes inherited tendencies examples a various cancers such as lung cancer begins by smoke toxins irritating bronchial tissue one or more genes in cells of that tissue begin to be deranged oncogenes created code for wild uncontrolled growth of cells b many common diseases such as hypertension HTN coronary artery disease CAD diabetes mellitus DM are now known to be caused or highly influenced by a mix of environmental and inherited components c disorders 1 a teratogen is any influence eg drugs radiation viruses that can cause congenital defects 2 congenital defects are abnormalities that are either detectable at birth and or can be attributed to fetal development glitches 3 so teratogenic disorders and congenital defects are virtually interchangeable terms 4 specific examples a fetal alcohol syndrome FAS occurs because toxicity of alcohol causes gene mutations during gestational development here Some explanations of terms Environmental is used here to mean any influence other than inherited Onco prefix b 5 thalidomide babies born with abnormal arms and legs due to mothers taking


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