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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

Health Studies
Course Code
HLTH 101
Glenn Ward
Study Guide

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HLTH 101 Fall 2010
1902: 1st inherited disease alkaptonuria (dark urine)
Garrod (1909) “Inborn Errors of Metabolism”
Both classical and molecular
o Classical: search for heritable traits
i.e., genetic epidemiology
o Molecular genetics:
Assesses nature of genetic contribution (what‟s the genetic code
and what protein does it code for?, etc.)
Manipulation of genetic information directly
o Questions:
How are genes important to heath?
How important are genes to health?
Diagnosis (not diagnosed genetically)
1) Sickle Cell Disease
a) Heterozygotes are not intermediary severity need both affected alleles to
possess disease
i) 30-40% RBC affected
ii) African Americans: 8% with trait
iii) 0.15 0.25% 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 F g 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
(iii)Reduces hospitalization, Sickle Cell crises, mortality
(iv) But also could be a mutagen or carcinogen?
(v) 2000 study study:

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HLTH 101 Fall 2010
1. 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) Pathology no 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 Genetics 1980’s 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) 6-8 y: small decrease in IQ
(ii) Today: through life
(iii)Especially 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) Huntington’s Disease
a) Pathology

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HLTH 101 Fall 2010
i) Late onset (usually)
ii) Problem with voluntary motor movements
iii) Mental deterioration
iv) Decrease of neurons throughout CNS (central nervous system)
v) 10-20 yrs., death
b) Genetics
i) Dominant
(1) Affected parent leads to (at least) ½ children affected
(2) Both sexes
(a) Autosomal (not sex-linked)
(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) X-linked inherited (men can only give it to their daughters, mothers can
give it to both)
(1) FMR 1 gene (Fragile site Mental Retardation)
(2) Unstable trinucleotide repetition
(3) Normal 6-49 repeats
(4) Premutational 50-200 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 (identification)cause 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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