Hsci 442 Midterm 2 Flashcards
What are autosomes?
22 of the 23 pairs of human chromosomes are “autosomes”
Sex Chromosomes
1 of the 23 pairs of human chromosomes
Chromosome 21
Down syndrome
Henderson Hasslebach Equation?
pH = pKa + log [A-] / [HA]
How do you find pKa?
pKa = -log (5.6 x 10^-10)
Chromosome 13
Patau Syndrome
Chromosome 18
Edwards Syndrome
Missing X chromosome
Turner Syndrome
Females with extra X chromosome
Trisomy X
Makes with extra Y chromosome
XYY syndrome
What are EH?
encode proteins that metabolize cyclic ether compounds
What are G6DP?
Encodes for the cytosolic enzyme that catalyzes the reaction
Proteomes?
The entirety of proteins in existence in an organism throughout its life cycle. (Also in stimulations).
Genotype?
Collection of alleles in a persons chromosome
Genes?
Working subunits of DNA that contain a code for a specific product (usually a protein) and instructions for making cells and what goes on inside them.
Phenotype?
Set of observable characteristics of an individual resulting from the interaction with the environment.
Metabolome?
Represents the collection of all metabolites in a biological organism.
Codon?
A sequence of three nucleotides that together form a unit of genetic code in a DNA/RNA molecule.
Base pairs of DNA?
ATCG: Adenine, Thymine, Cytosine, Guanine.
Base pairs of RNA?
AUCG: Adenine, Uracil, Cytosine, Guanine.
Which ethnic group does Tay sachs affect?
Eastern Jewish
What is Tay Sachs?
Abnormal lipid metabolism.
Which ethnic group does Sickle Cell Anemia affect?
African, African-American, Mediterranean
What is sickle shaped anemia?
Sickle shaped RBC, and hemoglobin formation is abnormal.
Diet
Genes respond to different phenotypes and nutrients.
Benefits of newborn screening?
Can track levels of phenylalanine, which high levels can cause buildup in the serum.
Which chromosome is affected by cystic fibrosis?
Chromosome 7.
What causes Down’s Syndrome?
Extra chromosome 21 (Trisomy 21).
Diseases related to multifactorial inheritance?
- Alzheimers
- Heart disease
- Intelligence
- Schizophrenia
- Neural tube defects.
How is pH regulated by the lungs and kidneys?
Lungs release Carbonic Acid and Kidneys release bicarbonate.
How is alcohol metabolized?
Alcohol is metabolized via ADH, ALDH, Catalase, and Cytochrome.
Where is OB found?
In mice.
Alcohol Metabolism occurs where?
In the liver.
Proof vs % alcohol?
Proof is that of double of % alcohol.
Ex. 80 proof = 40% alcohol.
What are the functions/outcome of human genome project?
Classifies the association between genes and physiological function.
HapMap Project?
Aimed to develope a map of the human genome to find genetic variants affecting health, disease, and responses to drugs.
