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Chapter 7 Notes for Quiz

by: Natalie Notetaker

Chapter 7 Notes for Quiz

Marketplace > Ithaca College > Health > > Chapter 7 Notes for Quiz
Natalie Notetaker

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These notes cover everything that'll be on the exam that was gone over in class. Specifically types of autosomal and sex linked diseases along with examples of each.
Disease and Lifestyle
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This 3 page Study Guide was uploaded by Natalie Notetaker on Wednesday September 28, 2016. The Study Guide belongs to at Ithaca College taught by in Fall 2016. Since its upload, it has received 33 views. For similar materials see Disease and Lifestyle in Health at Ithaca College.


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Date Created: 09/28/16
Chapter 7 Notes and Review for Quiz Part 1 The 7 Stages of Development - Fertilization, Embryonal period, Fetal period, Perinatal period, Infancy, Childhood, and adolescence o Diseases differ depending on what stage you’re at in development Fertilization: an ovum and sperm uniting - Each give 23 chromosomes to the zygote o Chromosomes contain our genetic information that’s needed to control the following stages of development o Human diseases result from abnormalities in genetic makeup as a result from the events going awry before and during fertilization (directly from textbook) - 22 of the 23 chromosomes are autosomes and the 1 left over is donated from the parent Karyotypes/Karyotyping: type of chromosome, if something is there or missing, if there are extra or missing chromosomes Every genetic trait is influenced by 2 alleles - Dominant vs. Recessive o Dominant alleles: result from how a genetic trait is expressed o Recessive alleles: is only expressed when both are recessive or defective Genotype vs. Phenotype - Genotype: genetic makeup of individuals o Even though it describes exactly what genes are present in the individual it doesn’t account for what they appear to be and can’t be predicted on how it’s expressed - Phenotype: physical and functional manifestation of the gene/trait - Non-penetrance: the gene is present but isn’t being expressed phenotypically - Variable Expressivity: slight variation of the characteristics… showing certain traits Genetic Disease: caused by an abnormal gene and it’s not necessarily familial o Example: new mutation Chromosomal Disease: microscopically visible structural change in the chromosome o Example: Down Syndrome a.k.a Trisomy 21 Familial Disease: several family members have the disease and is passed down o Example: Huntington’s disease Monogenic Disease: classifies whether the abnormal gene is found on an autosome chromosome (1-22) or sex-linked chromosome (23 chromosome) - Also tells whether or not it’s dominant or recessive - Autosomal linked disease is much more common for the fact that there are more autosomal cells Dominant Disorders: more likely to express the disease if you have the dominant allele Recessive Disorders: expressed only if both recessive copies are present Autosomal Dominant Diseases Huntington’s Disease: Has a late onset, signs for Huntington’s is usually around 30 to 40 years’ old - Cause: a repeat in the nucleic sequence, CAG/a section of the gene is being constantly repeated… the more repeats, the worse the disease - Affects: has a neurological system, change in coordination (Huntington’s Chorea/Dance), dementia (death of brain cell) Achondroplasia: a type of dwarfism - Affects long bone formation - Heterozygous dominant - Has a normal life expectancy? o Macrocephaly (bigger/larger forehead and head)  If homozygous recessive = still born child Marfan Syndrome - Appearance: very tall in stature and has very flexible joints - Has a defected protein (FBN1 & 2), fribrillin1 - People with this disease are more prone to having an aortic rupture and or lung collapse because the chest is usually indented in Autosomal Recessive Diseases Sickle Cell Anemia - What Happens?: the blood cells become stiff and rigid, less flexible - Causes: tissue death, fatigue, blockage, muscle pain, confusion (rare) - People with sickle cell anemia are prone to having more diseases and illnesses and take longer to heal (has a negative feedback) o Types of Crisis’: stress, lack of sleep (goes along with stress), elevation, dehydration (high salt-change in osmolarity) - Red blood cells cycle every 128 days whereas Sickle cells cycle every 10 to 28 days o Spleen operates in cycling the blood targeting them to waste - Treatment: reduce stressors/crisis, blood transfusion, iron supplements, pain management - Maleria-Sickle Cell Anemia: Heterozygous o If you have sickle cell and get malaria the reason why you have immunity is because  Shape incompatibility  Blood cycle is a lot quicker than regular blood cell cycling, allowing for malaria not to affect you Sex-Linked Recessive Disorders - Appear in every other generation - Presents itself on the “X” chromosome Duchenne Muscular Dystrophy - Most common in males - Loss of core strength - Reduced lifespan - Gower’s Sign: walking self-up into standing position, shows the loss of core strength Incontinentia Pigmenti: Extremely Rare - Patients have a marble cake appearance in skin - Causes: seizure disorders, slow motor development - Found on: Xq28


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