exam 1
Biology 170 with Schmidt at Illinois State University
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Textbook: Human Genetics: Concepts and Applications
Created: 2009-08-31
Size: 69 flashcards
Views: 114
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4 major biological macromolecules
nucleic acid (DNA and RNA), proteins, lipids, and carbohydrates
element
pure substance ... contains only 1 type of atom
H, C, O, N, S, P
(Hey Connie, owen needs some peanuts)
long chains os sugar molecules
- plant sugar? animal sugar?
2 types
- cellulose (makes plants rigid)
-starch (stored sugar)
-- produts of photosynthesis
--plant sugar is the raw material for all macromolecules
2 common types
- glycogen - stores in liver and large muscles
- glucolse - used for energy
-- sugar molecule came from plant sugars
- energy storage
2 basic components
1. clycerol
2. fatty acid
- go together to make lipid
long chains of amino acids (folds to form 3D structure)
- structural proteins
- regulatory proteins
- enzymes (regulate chemical reactions)
- all enzymes end in "ase"
- presence/absense of an ensyme determines whether or not a chemical reacion takes place
- ex: dark eyes and light eyes
- lock and key mechanism
- made of amino group, side group, and acid
- 20 total - all have diff side cahin and shape
disease related to carbs
lactose intolerance
- lactase = enzyme which asts on lactose
- w/out lactase sugar remaind in the digestive tract
- bacteria grow in the sugar
- bacteria produces gas = leads to cramping
- heredity - follows ethnic rules
early heart disease (FH) or Familial Hypercholesterol
- can procesa nd store only small amounts of choesterol in liver cells (normal is 70% of circulating LDL)
- diet high in fats = unstored cholesterol clogs arteries
- 1/500 have FH
- LDL = low density lipoprotein - "bad" cholesterol
- if receptor is deffective, then cholestrol remains in blood stream
maple syrup urine disease
- inability to metabolize 3/20 amino acids
- deficiency of neccessary enzype -> amino acids build up in blood stream
- feeding difficulties
- lethargy - baby sleeps a lot
- brain damage - > coma
- described in 1954
- 1/180,000 live births, 1/380 old order mennonites (tend to marry within family)
leson-nyhan syndrome (LNS)
- absencse of enzyme to recycle DNA bases
- instead they are converted into an acid which forms orange crystals in the urine
- involuntary writhing
- stress causes uncontrollable biting of fingers, lips, and shoulders
- require energy (must eat, for plants = sun)
- grow
- reproduce
- respond to stimuli
2 parts
1. cytoplasm
2. nucleoplasm (in nucleous)
outer boundary
- pores allow easy movement of small molecules
- composed of lipids
- controls activity ("brain")
- contains 2 other organelles
1. chromosomes
2. nucelolus
- genetice material
2 forms
1. chromosomes : compact rod-shaped (during cell division)
2. chromatin (long streched out form (during "normal" phase)
- memberanous structure
- connects to nucleous and spreade throughout cytoplasm
- ROUGH ER & SMOOTH ER
* ribosomes
site of protein synthesis (making proteins)
- on Rough ER
- sugars are made
- some marcromolecues are assembled (ie: products of milk)
- small round vesicles
- capture and take apart bacteria, worn out organelles, and debris
- contain enzymes
- large white blood cells called macrophages containg many lysosomes
- store digestive enzymes
- digest fatty acids
- rid the cell of toxic peroxides
- a missing ensyme will cause some type of disorder
- cylindrical structures
- involved in cell divission
- father of genetics
- entered monastery where he taught physics and botany
- researched garden peas
- hippocrates made up
- males and females formed "pangenes" (particles) in every organ
- pangenes moved through blood to genetals
- aristotle thought up
- refuted pangenesis
- this "petential" was inherited, not particles of the body
- sperm contained "vital heat"
- idea of genetics in 1600s
- mini indiv. contained in sperm
- suitable organism for study
- remarkable insight
- seven visible features - studied 1 or 2 at a time
- accurate notes
law of dominance
- medel
- dominant allele and recessive allele, only one allele will be expressed.
multiple alleles
- mroe than 2 alleles per gene
- usually b/c gene can mutate in different ways to form diff. alleles
- ex: PKU or Phynylcaptanuiria
- Phenylcaptonuria
- inborn error of metabolism where enzyme is absent and phenylalanne builds up in brain leading to irreversible brain damage, metal retardation, and seizures
- newborn screening
- special diet -> low/absent in Phe, fruits & veggies (except legumes), starchy foods okay, supplement of special formula
- affects homoreccessive indiv
- 1/ 15,000 births but varies among populations (1 in 5, 450 in Ireland)
1. classis w/ projound mental redartations
2. moderate
3. mild
4. asymtematic - excretiion of khenylalane in urine
- ex: snapdragons (red+white = pink)
- phenotype is a sort of blending of 2 alleles
- bothe expressed differently
- ex: red and white spotches on flower petals
- circular DNA in mitochondria (37 genes)
- many copies per organelle
- encode protiens that: help in assembling proteins (24) and funtion in energy production (13)
- many cause problems in muscle fatigue (produce weak and flaccid muscles, intolerance to excercise)
-inherited from mother
YyRr x YyRr is .....
the inheritance of one pair of alleles occurs independent of the inheritance of the other pair
- applies onley when the genes are on different chromosomes
crossing two different genotypes of the same trait
- 2 pairs of contrasting traits
- f1: YyRr x YyRr
- what are the gametes?
- YyRr can produce 4 kinds of gametes if one assumes the segregation of the seed textur alleles occurs independently of the seed color alleles.
how many combinations of alleles can appear in this combo?
AaBbccDDEe
- normal is white, affected is black, 1/2 and 1/2 carries allele for trait but doesn not express it (carrier)
- females are circles, males are squares
- roman numerals indicate generation
- arabic numerals = indiv. in generation
- if condition due to dominant allele, every affected person should have an affected parent
- if condition due to recessive allele, an affected person could have 2 non affected parents
- secret adoptions
- insufficient data
- complacating factors (variable expressivity, incomplete penetrance, botha ffect the abiliyt of a specific genotype to preduce the exprected phenotype ... exammple: extra fingers and toes)
- AaBb = 2 different genetic combos when linked (4 unlinked)
About this deck
Textbook: Human Genetics: Concepts and Applications
Created: 2009-08-31
Size: 69 flashcards
Views: 114
About StudyBlue
Naj