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NURB 340- Pathophysio

by: Kelsey Forbeck

NURB 340- Pathophysio NURB 340

Kelsey Forbeck
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These notes cover the first reading and lecture of pathophysiology. I will be adding flashcards on here over the content at some point during the week. I will also have the notes for 9/12 on here s...
Class Notes




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This 8 page Class Notes was uploaded by Kelsey Forbeck on Sunday September 11, 2016. The Class Notes belongs to NURB 340 at University of Indianapolis taught by Moore in Fall 2016. Since its upload, it has received 67 views. For similar materials see Pathophysiology in NURSING at University of Indianapolis.


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Date Created: 09/11/16
NURB 340: Pathophysiology 1 Genes and Genetic Diseases  Mutation- an addition or subtraction of genes that may lead to a disorder  Purpose for studying genetics: o To find cures. If we understand the problems, then we can fix it. o Having an understanding can also help us to figure out what will be passed onto our children o If we have and understanding, then we can educate our patients  A medical genetic family pedigree: o Must be confirmed by a doctor before showing the family o Helps patient see if it effects women more than men or vice verses  Genetic counseling: o Has major implications for reproduction o Implication for developing history (% chance of passing it on) o Implication for family history o May open the door to blaming one another saying the other partner caused this problem  The Human Genome Project: o DNA discovered by Watson and Crick o The goal of the project was to find all the locations on a human gene to determine the entire DNA sequence o Thanks to this project we can find the problems ahead of time and treat them o Building blocks of genes is A, C, G, T. o The project discovered that the concentrated areas are mainly composed of Guanine and cytosine  Scientists can see this through a microscope o Another finding from this project was that chromosome number 1 had the most genes, and chromosome Y had the least o Purpose of this project was to identify and treat people with genome problems o YOU own your genetic information o Access in your genetic information could impact your insurance because they won’t want to help you as much if they know you have a genetic condition  Issues for HealthCare Professionals: o Privacy/Confidentiality- keep charts, verbal information, everything private o Discrimination- don’t discriminate those who have conditions o Research- prevention and treatment (keep up to date) o Pharmacogenomics- role of genetics in drug response o Gene therapy- experimental technique that uses genes to fix problems or diseases (Dr. could insert a good gene into a cell) o Genetic engineering- uses genetics and biotechnology to cut and rejoin genes (two different things and putting them together- direct manipulation)  Genetic Code: o Cell nucleus > Chromosome> double helix> each strand is composed of phosphate molecule and four bases > connected by WEAK hydrogen bond> pairing the bases makes proteins  The hydrogen bond has to be weak because it has to let go for reproduction o Purpose of DNA strands:  Directs synthesis for the making of all the body’s proteins o What comprises a DNA strand?  Sugar molecule  Phosphate molecule  Bases  Weak hydrogen bond o Three steps of protein synthesis:  DNA is reproduced (inside the cell)  DNA is transcribed into messenger RNA (outside of the cell)  Messenger RNA is translated into protein o DNA directs the synthesis of all the body’s proteins o Complementary base pairing:  Adenine = Thymine  Guanine= Cytosine o The bases are arranged into groups of three called a codon o Each codon specifies a single amino acid in a corresponding protein o A specific sequence of triplets represents a gene  DNA replication: o The double helix unzips and then all the free floating base pairs tack up to their complementary base pairs (like a lock and key, they fit together) o The unpaired strand will then attract a nucleotide only if it has the correct base pairing o DNA polymerase (which is the molecule) comes along the whole strand and checks the work.  The DNA polymerase goes along the newly completed DNA strand and makes sure everything is matched up well  When they don’t match up well, then mutations occur  Mutations: o A change in the structure of DNA is permanent because once replicated incorrectly, it will always replicate incorrectly. o Not all mutations are bad. They make us unique. o Silent mutations- mutations that go unnoticed o Acquired mutations (somatic mutation):  Mutations you are NOT born with  You can acquire a mutation through smoking, UV rays o Inherited mutation (germline mutation):  Mutations you are born with (passed from parent to child)  You can inherit a mutation such as down syndrome, sickle cell o 2 Main Types of mutations:  Base pair substitution:  When once base replaces another  Take T, A out and put in G, C (everything from there on stays the same)  Frameshift change:  Changes codon by deletion or insertion  Take T, A and it goes down one and continues to stay down one  Change entire frame o Sub Types of Mutations:  Point mutation:  Single point not the same but made no difference  Missense:  Base pair substitution that results in a change in the amino acid  Nonsense:  When a stop codon is introduced.  At this point it stops replicating which is nonsense!! o The stop codons are:  TAA  TAG  TGA  Chromosome Terminology: o Gamete:  Meiosis  Haploid (1 copy of chromosome; 23)  Sex chromosomes  XX (female)  XY (male) o Somatic:  Mitosis  Diploid (2 copies of chromosome; 46) = zygote  Autosomes (non sex chromosomes) o Karyotype:  An ordered display of chromosomes o Centromeres and bands are key components o Under a microscope, the researchers are looking for:  Length  Centromere taken  Size of bands  Looking at all this so they can identify if things are wrong  Abnormalities of Chromosomes: o Euploid- normal cell o Polyploidy- more than what is needed o Triploidy- 3 copies (23+23+23= 69) o Tetra ploidy- 4 copies (23+23+23+23= 92) o Aneuploidy- Something is missing or there is an extra ONE  A result of nondisjunction. Didn’t split like it is supposed to  Do not have a multiple of 23  Turner’s  45 X  The Y chromosome is missing and there is only one copy of X  Not inherited; just a random event  Characteristics of male and female  No menstruation  Shorter  Low hair line  Breast development  Klinefelter’s syndrome  47 XXY  Too much  Since the Y is so small it doesn’t usually cause a problem  Will have baldness  Breast development  Small testes  Traits of male and female  Generally, not inherited because they don’t menstruate so cannot reproduce o Monosomy- only one exists; stands alone (don’t hear about it often because its incompatible with life) o Trisomy- extra one so there’s three (think of down syndrome)  Often see them on the 13, 18, and 21 chromosome Trisomy 13: o Small heads o Cleft lips o Ear deformed *can live with trisomy but CANNOT live with monosomy*  Chromosomal Abnormalities: o Deletion:  Just taking a piece of the material out  EX: Cri-Du-Chat  Deletion of part of a chromosome on #5 o Duplication:  Taking a piece out then duplicating which isn’t as bad as missing pieces o Translocation:  Interchanging of material between two chromosomes  Taking a piece of one chromosome and switching with the other chromosome  Nothing is lost  Mixing of the colors o Fragile X syndrome:  A piece breaks off  Happens on an X chromosome  Leads to mental retardation  Most common fragile site o Inversion:  Take the material, flip it upside down, and put it back where it came from o Insertion:  Take one from one and add it to the other *MUTATIONS DEAL WITH PROTEINS; ABNORMALITIES DEAL WITH CHROMOSOMES  Elements of Formal Genetics (key terms) o Allele- alternative form of a gene o Homozygous - (AA or aa) o Heterozygous - (Aa) o Genotype- genetic composition (what’s inside your genes) o Phenotype- physical composition (what you can physically see) o Dominate- expressed as AA or Aa o Recessive- expressed as aa o Codominance- A condition in which the alleles of a gene pair in a  heterozygote are fully expressed thereby resulting in offspring with a phenotype  that is neither dominant nor recessive o Carrier- have trait but don’t display it o Reoccurrence risks- likelihood of passing it onto your child o Punnett square- used to predict the outcome of offspring  Mendelian Patterns of Inheritance o Either sex cell or somatic o Autosomal dominate- AA or Aa  EX: Huntington’s disease  A dominate disorder  50% chance of passing it on  Characteristics:  Generations are not skipped  Male and female are impacted the same way o Autosomal recessive- aa  You need both recessive genes  If you have a big A then you do not have the disease you are just a carrier.  Usually early onset  Consanguinity- in bred  Penetrance- percentage of individuals with a specific genotype also exhibit the phenotype (have the genetic problem and look like they have the genetic problem)  Expressivity-, variations in a phenotype among individuals carrying a  particular genotype  Cystic Fibrosis- IS AN EXAMPLE  Multiple body systems are affected  You can have either mild, moderate, or severe symptoms  Lungs and pancreas are affected o X-linked dominate (sex linked)  Always male because they only have one X (if they have a bad X they are going to have a problem)  Rare  Fragile X o X-linked recessive  More common  Always male  Never transmitted from father to son  It can skip generation  If dad has the bad X he will ALWAYS give it to his daughter o Disorders of the Y chromosome are VERY rare because the Y chromosome is SO small.  Multifactorial Inheritance: o Environmental factors (smoking) o Lifestyle choices and behaviors o Family genetics o Common Disorders: cleft lip/palate, anencephaly, congenital heart defects, spine bifida, diabetes etc. o “runs in the family” o Genetic predisposition  Congenital defects may not be necessary to be related to genetics o Period of vulnerability  Neuro development, if mom doesn’t have enough folic acid during this period then it could lead to problems o Teratogenic agents  Radiation  Chemicals, drugs  Fetal ETOH syndrome, cocaine babies  TORCH infections  Toxoplasmosis  Other agents  Rubella  Cytomegalic virus  Herpes


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