Heredity and Society (Lecture 7-11) Flashcards
protein synthesis
DNA to protein
2 steps of protein synthesis
transcription and translation
Transcription
process by which mRNA or RNA strands are made from DNA strands
Translation
the synthesis or making of a protein from mRNA transcript
Proteins
- Composed of amino acids
- about 20 different amino acids
- billions of combinations possible
codons
codes amino acids
Structural
keratin, collagen
hormones
insulin, human growth
body defense
anitbodies
transport
hemoglobin
motion
actin and myosin
enzymes-catyladt
polymerases essential for DNA replications and gene expression
Prions
Protien gone wrong
Prions cause
infectious diseases,
examples, vCreutzfeldt- Jakob
-fatal familia insomnia
-bovine spongiform encephalopathy (BSE) or mad cow disease.
mutation
chnages in the nucleotide sequence or chromosme
types of mutations
Germiline- in germ cells-pass to generations
Somatic occurs in body cells-during replication before mitosis-not inheritable
causes of mutations
spontaneous occurs randomly- no external cause
induced by exposure to mutagens such as radiation or chemicals
Base analogs
structually resemble bases
food persevatives
(nitrates to nitrous acid) may modify the structure of bases and an incorrect base is inserted
pesticides
can insert inside a DNA helix and distort
Cancer inherited susceptibility
Mutant gene in germ cells (predisposition)
Sporadic
(Acquired) 1 or more mutations accumulate spontaneously or by exposure to environmental agents in somatic cells
Most common cause of cancer
Sporadic
Tumor suppressor genes
Suppress or turn off cell division (brakes)
Porto-oncogenes
Stimulates the cell growth -pushes the cell through all the check points
-if mustered, become oncogenes (accelerator)
Oncogenes
Accelerator
Timor suppressor genes cell cycle
G1/S or G2/M control points
If mutated, brakes are removed, cell grow out of control
Proto-oncogenes cell cycle
Stimulates the cell growth -pushes the cell through all check points
If mutated, become oncogenes, accelerator is permanently on
Cancer
Malignant tumor is more serious health problem than a benign tumor because cancer cells can spread to distant parts of the body
Benign
Not cancer
Tumor cells grow only locally and cannot spread by invasion of metastasis
Grow locally
Malignant
Cancer
Cells invade neighboring tissues, enter blood vessels, and metastasize to different sizes
Metastasis process
- Cancer cells break away from their original tissue
- The metastasizing cells become attached to the wall of a blood vessel. They secrete digestive enzymes to create an opening. Then they cross the wall at the breach.
- Cancer cells creep or tumble along inside blood vessels, then leave the bloodstream the same way they got in. They start new tumor a in new tissues
What do cancer cells show?
Uncontrolled cell division
Most cancer
Cell accumulates a # of mutations over a long period of time
Have abnormal shapes
Affect many different cells and tissues or metastatic
Carcinomas
The most common types of cancer, arise from the cells that cover external and internal body surfaces.
Most common types of cancers in America
Lung, breast, and colon
Sarcomas
Cancers arising from cells found in the supporting tissues of the body such as bone, cartilage, fat, connective tissue, and muscle
Lymphomas
Cancers that arise in the lymph and tissues of the body’s immune system
Leukemia
Cancers of the immature blood cells that how in the bone marrow and tend tl accumulate in large numbers in the blood stream
Treatments for cancer
Surgery
Radiation
Chemotherapy
Drugs
Mutagen
Physical or chemical substances that causes mutations in DNA
Carcinogen
A substance or agent that causes cancer
What small differences in proteins do?
Large effect on the ability to taste, smell, and metabolize medicines
Ability to taste
Ability to taste PTC is controlled by a pair of allies
Homozygous recessive individuals can not taste PTC
Kale and Brussels sprouts
Ability to metabolize dugs
Pharmacokinetics Differences may include: Drug resistance Toxic sensitivity Development of cancer Other
Genetic drug sensitivity
Succinylcholine
A muscle relaxant
Used as a short acting aesthetic
Broken down by an enzyme serum cholinesterase
Homozygous recessive individuals are sensitive to the drug
May cause lethal paralysis of respiratory muscles
Cytogenetics
Subdiscipline within genetics that studies the organization and arrangement of chromosomes. Links chromosome variations to specific traits.
Deletions
Loss of chromosomal material Example: Cri du chat Deletion of short arm of chromosome 5 Affects motor and mental function Infant cry resembles a meowing cat DiGeorge syndrome
Translocation
Exchange between non-homologous chromosomes
Klinefelter Syndrome
47, XXY
Testes smaller, may develop breast tissue, large hands and feet, sparse pubic/facial hair
Affected individuals are male but usually sterile
May have mental dysfunction
Other forms XXYY, XXXY and XXXXY
XYY Syndrome
45, XYY 1/1000 births Above average in height Often severe acne/adolesence May have personality/behavioral disorders May lead normal lives
Turner’s Syndrome
4?, X
95-99% 45X die before birth
Females; short, wide chest; rudimentary ovaries; and abnormal sexual development
No mental dysfunction
Complete absence of an X chromosome is lethal
Nondisjunction
is the failure of homologs or sister chromatids chromosomes to separate in meiosis or mitosis
Produces abnormal gametes
Down Syndrome
Trisomy 21:
First chromosomal abnormality discovered in humans (1959)
1/900 live births
Leading cause of mental retardation and heart defects in US
Wide flat skulls, skin folds in the corner of the eyes, thick, furrowed tongues
40% congenital heart defects
Edwards Syndrome
Trisomy 18:
Affected infants small at birth, grow slowly and are mentally retarded
For unknown reasons 80% of all trisomy 18 are female
Advanced maternal age is a risk factor
Patau’s Syndrome
Trisomy 13
Lethal
Facial malformations, eye defects (small or absent)
Parental age only known risk factor
Cri-du-chat syndrome
needs answer
Start codon
The aug codon that signals the location in mRNA where translation begins
Stop codon
Condoms UAA UAG UGA in mRNA that signal the end of translation
Anticodon
A group of three nucleotides in a tRNA molecule that recognize a specific codon in mRNA
examples of prions
vCreutzfeldt-Jakob
Fatal familial insomnia
Bovine spongiform encephalopathy (BSE) or mad-cow disease
what can protein misfolding cause
Folding–structure-function May cause changes in protein folding Examples Cystic Fibrosis Alzheimer disease, Parkinson’s Huntington’s disease
Frameshift mutations
Mutation caused by the insertion of deletion of nucleotides
Missense mutation
mutation in which a single nucleotide change results in a codon that codes for a different amino acid.
Nonsense mutation
a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product.
Thymine dimer
needs answer