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Final Exam Review These are all the notes, covered on the final exam, starting with topic 10. I apologize for any stupid jokes in the notes :D

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Health Studies
HLTH 101
Glenn Ward

HLTH 101 Fall 2010st 1902 1 inherited diseasealkaptonuria dark urineGarrod 1909Inborn Errors of MetabolismBoth classical and molecular o Classical search for heritable traitsie genetic epidemiologyo Molecular geneticsAssesses nature of genetic contribution whats the genetic code and what protein does it code for etcManipulation of genetic information directly o QuestionsHow are genes important to heathHow important are genes to healthImplicationsDiagnosis not diagnosed geneticallyScreeningTreatmentPrevention1 Sickle Cell Disease a Heterozygotes are not intermediary severityneed both affected alleles to possess disease i 3040 RBC affected ii African Americans 8 with trait iii 015025 with Sickle Cell Anemia iv Some parts of Nigeria more than 30 with trait b Treatment i Current 1 Antibiotics for infections 2 Transfusions 3 Treatment for pain 4 Stimulation of the production of fetal Hb hemoglobin a Hb Fg subunit not a or b subunit b Younger than 6 months of age c Hydroxyurea i Toxic to RBC free radical production ii Stimulates the production of Hb F iiiReduces hospitalization Sickle Cell crises mortality iv But also could be a mutagen or carcinogen v 2000 study study HLTH 101 Fall 20101 Mortality to SCA 10x more than mortality to Cancer 5 Interdisciplinary health approach a Newborn screening in target population b Registration c Vaccines parent education monitoring d Treatment ii Potential approaches 1 Stem cell treatment a Erythroid progenitor cells 2 Gene therapy a Insert normal Hb gene leading to RBC precursor cells 3 Cost Comitment 2 Phenylketonuria PKU a Pathologyno PAH Phenylalanine hormone activity in liver enzymes i Increase in phe in blood leading to phenolpyruvic acid 1 Affect brain development ii Lower production of tyrosine 1 Catecholamine precursor 2 Decrease of catecholamines b Molecular Genetics1980s loss of PAH gene or chromosome 12 c Treatment i Reactive Intervention 1 None ii Prevention 1 Reduce phenylalanine levels through diet a Begin after birth b When stop i 68 y small decrease in IQ ii Today through life iiiEspecially if pregnant c Diet unwieldy unpalatable inconvenient d Decreased compliance as age increases d Interdisciplinary health approach i Provide Special diet ii Monitor phenylalanine levels iii Educate children and parents iv Social support e Experimental approach i Replace enzymes 1 Plant enzyme phenylalanine ammonia lyase a Metabolize phenylalanine b Consume with phenylalanine 2 DNA clone expression phenylalanine hydroxidase a Insert into liver precursor cells 3 Huntingtons Disease a Pathology HLTH 101 Fall 2010i Late onset usually ii Problem with voluntary motor movements iii Mental deterioration iv Decrease of neurons throughout CNS central nervous system v 1020 yrs death b Genetics i Dominant 1 Affected parent leads to at leastchildren affected 2 Both sexes a Autosomal not sexlinked b From father earlier onset c Molecular Genetics i 1983 marker on chromosome 4 1 Protein huntingtin about 3100 AA 2 Variable number of glutamines a CAG codon repeats 3 Brain pathology unclear 4 Number of repeats leads to increased probability of further mutations a Above 30 repeats odds are increased significantly b Increased mitoses lead to an increase in risk 5 From father often leads to a heightened severity 6 Anticipation worsens with each generation 4 Fragile X Syndrome a Pathology i Mental retardation ii Increased severity in males only one x chromosome b Genetics i Xlinked inherited men can only give it to their daughters mothers can give it to both 1 FMR 1 gene Fragilesite Mental Retardation 2 Unstable trinucleotide repetition 3 Normal649 repeats 4 Premutational50200 repeats increased susceptibility to repeats 5 Mutation between 200 and 1700 repeats ii Mutation in males and females 1 Females deactivate 1X chromosome in each cell a Mosaics b Some cells mutate 2 Decreased effectiveness 5 Summary and Implications a Gene sufficient cause for disease b Do ID identificationcause and treatment of genetic diseases depend on isolation of gene c ID gene lead to understanding of pathology d ID molecular mechanism of gene action lead to effective treatment e Understanding genetic diseases dependent on genetic research only
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