Term
| Lack of Myostatin (Pros, Cons) |
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Definition
Myostatin - controls muscle size
Mutants - "superboy" meatier chicken etc.
Pros- Help for muscular dystrophy, AIDs, Cancer
Cons- Body building abuse, prediction of athletic prowess. |
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Definition
| Complete set of genetic info characteristic of an organism. Human: ~24,000 protein-coding genes, only 1.5% of all DNA |
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Definition
| Address personal issues that arise in applying medical technology. |
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Definition
| Addresses more common illnesses influenced by many genes that interact with each other and the environment. |
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Definition
Help prevent, delay, control or treat addictions and genetic diseases.
Helps couples decide whether to have children.
Personalized medical treatment. |
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Definition
Variants of genes formed by DNA mutations in sperm or egg cells passed on to next generation.
Can be positive (helpful), negative (harmful), or neutral. |
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Definition
Single nucleotide polymorphisms
Shows variation w/in population
Used in forensics for indicidual identification |
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Definition
DNA + Protein
46 per cell
22 pairs of autosomes
1 pair of sex chromosomes.
Low gene density in 13/18/21.
Males express more traits due to X chromosome deactivation into Bohr bodies. |
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Definition
| Discrete traits with 100% penetrance (population level). |
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Definition
| More than 1 gene coding for the trait (different chromosome) |
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Definition
| Individuals probability of developing a condition |
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Definition
| Likelihood that an indiv. from one group will develop a condition in comparison to the general pop. |
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Definition
| Establishes relationships and is helpful in forensics and healthcare. |
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Definition
| Tests can identify ~1000 single gene disorders. Only 250,000 indiv. get tested annually. |
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Term
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Definition
>260 cell types
4 categories: Epithelial, Muscle, Nerve, Connective
4 macromolecules:
Proteins
Carbohydrates
Lipids
Nucleic Acids |
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Term
| Inborn Errors of Metabolism (Diseases) |
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Definition
CHO: Lactase Deficiency
Lipids: Familial Hypercholesterolemia
Proteins: Maple Syrup Urine Disease
Nucleic Acids: Lesch-Nyhan Syndrome
Vitamins: Biotinidase Deficiency
Minerals: Wilson Disease |
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Term
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Definition
Autosomal Dominant
Cause: Cannot break down lactose: bacteria flourish in intestine
Symptoms: Gas, Cramps, Bloating
Treatment: Soybean-based formula |
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Term
| Lipids: Familial Hypercholesteroma |
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Definition
Autosomal Dominant
Cause: 1/2 # cholesterol receptors in liver cells, chol. build up in arteries
Symptoms: Heart Attack
Treatment: Lower fat diet, chol-lowering drugs. |
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Term
| Proteins: Maple Syrup Urine Disease |
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Definition
Autosomal Recessive
Cause 3 a.a.s can't get digested, accum in blood stream.
Symptoms: Sleepy Hardly Grows, Vomit
Treatment: Diet lacking those 3 a.a.s |
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Term
| Nucleic Acids: Lesch-Nyhan Syndrome |
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Definition
X Linked Recessive
Cause: HGPRT enzyme deficient, cannot recycle 2 nt types, get converted to uric acid
Symptoms: Orange granules in diaper, mental retardation, bites oneself, kidney failure
Treatments: Remove teeth |
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Term
| Vitamins: Biotinidase Deficiency |
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Definition
Autosomal Recessive
Cause: Slows rate of biotin usage (Vit. B type)
Symptoms: Mental retardation, seizures, rash, hearing loss
Treatment: Biotin supplements or fatal |
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Term
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Definition
Autosomal recessive
Cause: Excess copper absorbed in body
Symptoms: Stomach and headaches, inflamed green edge on eye.
Treatment: Penicillamine helps excrete Cu in urine. |
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Term
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Definition
Lysosomes: Tay Sachs Disease
Peroxisomes: Adrenoleukodystrophy
Mitochondria: Maternally Inherited
Plasma Membrane: Long QT Syndrome
Plasma Membrane: Cystic Fibrosis
Cytoskeleton: Epidermolysis Bullosa
Cytoskeleton: Spherocytosis |
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Term
| Lysosomes: Tay-Sachs Disease |
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Definition
Autosomal Recessive
Cause: Lacks enzymes that break down lipids that surround neurons
Symptoms: By 6 months loses skills, sight, hearing, movement- dies by age 3 |
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Term
| Peroxisomes: Adrenoleukodystrophy |
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Definition
Autosomal Recessive
Cause: can't breakdown long f.a. chains, accum in brain and spinal cord.
Symptoms: Dark skin, low blood sugar, weak muscles, irreg. heart beat, loses limb control, dies by age 3.
Treatment: Lorenzo's Oil - canola oil diet. |
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Term
| Mitochondria: Maternally inherited |
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Definition
Cause: mt from sperm does not penetrate or survive in oocyte
Symptoms: extreme muscle weakness. |
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Term
| Plasma Membrane: Long QT Syndrome |
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Definition
Cause: Faulty K+ channels in heart and inner ear, extracellular K+ too high.
Symptoms: abnormal heart rythm and deafness |
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Term
| Cytoskeleton: Epidermolysis Bullosa |
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Definition
Cause: Faulty intermediate filaments, skin layers seperate.
Symptoms: Blisters form under skin. |
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Term
| Cytoskeleton: Spherocytosis |
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Definition
Cause: defective ankyrin or spectrin proteins RBC cannot maintains its shape
Symptoms: spleen clogged of aged RBCs.
Treatment: remove spleen. |
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Term
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Definition
| Timed nuclear division then cell division |
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Term
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Definition
Normal during development
Genetically programmed sequence of events
Certain cells must die as body forms. |
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Definition
| Response to injury,death receptors receive signal to die |
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Definition
| Cell changes various types of stimuli into specific biochem. rxns. |
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Term
| Neurofibromatosis Type I (NFI) |
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Definition
A growth factor disorder
Cause: growth factor transmission is not blocked
Symptoms: tumors grow under skin in nervous tissue |
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Term
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Definition
| Interactions among proteins that join cells |
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Term
| Leukocyte Adhesion Dificiency |
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Definition
Cause: Cannot stop WBCs in blood vessels
Symptoms: sores in teething - can't produce pus
Treatment: needs anti-infective drug |
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Term
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Definition
Forebrain in embryo fails to seperate into 2 hemispheres
Due to faulty gene w/ enir. influence at partic. stage of development
Result: cyclopia
1 in 16,000 births
1 in 200 spont. aborts. |
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Term
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Definition
Embryo up to 8 weeks
Neural tubes form by day 14 (research stopping point)
Neural tube is closed by day 28
(If not spina bifida (paralysis) occurs)
Alpha fetoprotein (AFP) detected in mother's blood by wk 15. |
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Term
| Monozygomatic (Identical) Twins |
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Definition
1 in 81 pregnancies- identical twins
Up to 70% eventual births with only 1 child born
1 in 50-100,000 pregnancies embryo divides between day 13-15 resulting in conjoined twins. |
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Term
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Definition
SRY gene on the Y chromosome becomes active by wk 6
By wk 12, sex is determined
3rd trimester: brain cells w/networks
Digestive and respiratory systems develop last
266 days after conception, ready to be born
31/100 oocytes exposed to sperm go to term
1.2 of fertilized ova have chromosomal abnormalities |
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Term
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Definition
By age 30, body starts to decline its efficiency by 0.8% per year.
Adult onset inherited disorders: Rothmund-Thompson Syndrome
Hutchinson-Gilford Syndrome
Werner Syndrome
Ploycystic kidney disease
Huntingtons disease
Alzheimers disease |
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Term
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Definition
Envir. factors can affect how certain genes are expressed before birth, creating risks that appear much later
Conditions that affect children are generally recessive.
Conditions that are onset at middle adulthood are generally dominant. |
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Term
| Polycystic kidney disease |
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Definition
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Term
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Definition
Auto Dominant
Cause: huntington protein w/ extra a.a.s - folds improperly clumps in certain brain cells
Symptoms: Start with clumsy, slurred speach, repetitive dance, in 15-20 years worsen and die of infection
Uncontrolled movements, diminished mental state begins ~ age 40 |
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Term
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Definition
| 5-10% inherited, starts ~late 40s B-amyloid deposits in learning and memory centers |
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Term
| Rothmund- Thompson Syndrome |
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Definition
| Premature gray, bald cataracts, cancers, osteroporosis, Normal life span |
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Term
| Hutchinson-Gilford Syndrome |
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Definition
| Slows growth by age 1, wrinkled and bald in few years, clogged arteries - dies of heart attack |
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Term
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Definition
Skips adolescent growth spurt
Dies by age 50 of atherschloerosis, diabetes, etc. |
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Term
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Definition
Auto recessive
Lysosomes in brain cells lack enzyme to break down lipfuscin buries brain in lipids
Symptoms: by age 2 1/2 blurred vision, jerky movements, poor coordination, seizures
50% of sons inherited
Treatment: gene therapy to deliver good gene to brain |
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Term
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Definition
Autosomal dominant
Symptoms: additional digits |
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Definition
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Dominant Trait
Homozygous dominant is fatal |
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