LECTURE OUTLINE Cell Structure & Function DNA Replication Protein Synthesis Mutations Simple Inheritance Genetic Disorders
Dec 16, 2015
LECTURE OUTLINE
Cell Structure & Function
DNA Replication
Protein Synthesis
Mutations
Simple Inheritance
Genetic Disorders
MITOCHONDRIA
Energy from glucose
Produce ATP
Have their own DNA
Eukaryotes
“Powerhouse”
Tissue types
RIBOSOMEFree-floating in cytoplasm
Bound to membranes
Protein synthesis
Translate mRNA
Two subunits
Larger in eukaryotes
Ribosome - ER - golgi
Thousands per cell
GOLGI APPARATUS
Packaging center
Proteins
Cells w/secretory role
Polar ends
Flattened sacs
Vesicles
ER
Attached Earlobe Unattached Earlobe
Tongue Roll Tongue Flip Tongue Fold Hitchhiker’s Thumb
Ear WaxEar Diagram
Hand Fold
Bent Pinky PTC Tasting Widow’s PeakDimples
Mid-digital hair Bent LittleFinger
Short Hallux Finger Length
Autosomal Recessive TraitsOnly expressed in individuals that have two copies of the relevant gene. More frequent with inbreeding, isolated groups.
Autosomal Dominant TraitsExpressed even if only one copy of the gene is inherited. Effects sometimes show up later in life.
Sex-linked TraitsAssociated with genes on the X chromosome.
Chromosomal AbnormalitiesDeletions, Duplications, Inversions, Translocations
Nondisjunction and AneuploidyExtra or missing chromosomes
carriercarrier
??
UnknownphenotypeUnknown
phenotype
femalefemale
malemale
Affected individualsAffected
individuals
consanguineous marriage
consanguineous marriage
Female carrier of an x-linked trait
Female carrier of an x-linked trait
marriagemarriage
Extra-maritalmating
Extra-maritalmating
probandproband
diseaseddiseased
progenyprogeny
Stillbornor abortion
Stillbornor abortion
identical (monozygotic)
twins
identical (monozygotic)
twins
Dizygotic twinsDizygotic twins
Generations are numbered w/Roman numerals. Within each generation, individuals are numbered from oldest to youngest.
GENERATIONS
Direct transmission from an affected parent to an affected child.
Transmission can occur from affected father to affected son.
Approximately a 1:1 ratio of affected vs. unaffected progeny with one affected parent.
AUTOSOMAL DOMINANT INHERITANCE
(Affected children always have an affected parent.)
Affected individuals can be either male or female.
However, affected children typically do not have affected parents.
Affected parents can have affected offspring.
AUTOSOMAL RECESSIVE INHERITANCE
SEX-LINKEDRECESSIVE TRAITS
More affected males than females.
Affected grand-father to grand-son thru carrier female.
Females do not manifest the disorder.
Huntington’s Disease• Woody Guthrie• Arlo Guthrie• Children
DOMINANT DISEASE
Dominant allele -- you have the disease or you don’t
Lobster Foot
• Dominant doesn’t necessarily mean commonplace
• Albinism• Achondroplasia
• Both parents can be carriers to have an affected child
• 2 affected parents will usually produce an affected child
RECESSIVE DISEASE
RECESSIVE DISEASE
1953 -- Using an x-ray pattern of DNA generated by Rosalind Franklin, Maurice Wilkins, James Watson and Francis Crick publish their double-helix model DNA.
1962 -- Wilkins, Watson & Crick win Nobel Prize
FRANKLIN, WATSON, CRICK, WILKINS
1960-1966 -- protein synthesis described
They decipher the genetic code that all living cells use to translate the series of bases in their DNA into instructions for the production of proteins.
NIRENBERG & KHORANA
1970 -- Hamilton Smith discovers the first restriction enzyme that cuts DNA at specific sites. Daniel Nathans & Werner Arber use restriction enzymes to generate the first physical map of a chromosome.
SMITH, NATHANS & ARBER
1977 -- working separately, each develop techniques for rapidly ‘spelling out”long sections of DNA by determining the sequence of bases.
BERG, GILBERT, MAXAM & SANGER
Chimp 48Orangutan 48Gorilla 48
Gibbons 44Siamang 50
Colobus 44Green Monkey 60Baboon 42Owl Monkey 54Squirrel Monkey 44
Ringtailed Lemur 56Black Lemur 44
CataractsGlaucomaHereditary deafnessRetinitis pigmentosaSchizophreniaMigraneProstate cancerAcute LeukemiaBrain camcerMuscular dystrophyColon cancerAlzheimer’s diseaseFish odor syndrome
CHROMOSOME 1
Colon cancerObesityLiver cancerDiabetes mellitusCleft palateCataractsEpilepsyParkinson’s diseaseMuscular dystrophyPseudohermaphroditismOvarian cancerMicropenis
CHROMOSOME 2
Huntington’s diseaseNight blindnessPhenylketonuriaParkinson’s diseaseAlcoholismRed hairMast cell leukemiaAchondroplasiaDopamine receptorRetinitis pigmentosaHip dysplasia
CHROMOSOME 4