LECTURE OUTLINE

Cell Structure & Function

DNA Replication

Protein Synthesis

Mutations

Simple Inheritance

Genetic Disorders

SIZ

E C

OM

PA

RIS

ON

S

MU

TA

TIO

NS

PHOSPHOLIPIDMEMBRANE

Protection

Entry/exit

Cell recognition

Compartmentalization

Fluid mosaic

NUCLEUSStores genes on chromosomesProduce ribosomes Transport regulatory factors & gene products

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

GREGOR MENDEL

ENDOPLASMIC RETICULUM

Network of channels Communication

Ribosome-studded

Protein transport

SMOOTH ENDOPLASMICRETICULUM

No ribosomes

Lipid transport

Large surface area Enzyme attachment

GOLGI APPARATUS

Packaging center

Proteins

Cells w/secretory role

Polar ends

Flattened sacs

Vesicles

ER

CENTRIOLERight angle cylinders

Microtubules

Spindle fibers

Cell division

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

PEDIGREE

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.

Examples of sex-linked recessive traits:

COLOR BLINDNESS

Examples of sex-linked recessive traits:

COLOR BLINDNESS

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

1944 -- First experimental evidence that DNA transmits genetic information.

AVERY, MACLEOD, MCCARTY

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

XO

1/2500 live births