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Genetics are awesomeeee.
Real ? Name ?
Structure of DNAEach DNA molecule is made up of two very long
polymers
Double helix: is the shape
Nucleotides: are the building blocks: each has deoxyribose ( a 5 carbon sugar) phosphate group nitrogenous base
DNA double helix
Nitrogenous basesThere are four different nitrogenous bases
thymine (T), cytosine (C),
adenine (A), and guanine (G)
These four bases are the foundation of the genetic code.
These chemicals act as the cell's memory, instructing it on how to synthesize enzymes and other proteins. These four nucleotides encode everything an organism needs to live and protects this information with incredible accuracy.
In a human being
DNA is broken down onto 46 separate chromosomes
Each chromosome has about 160 million nucleotide pairs
This massive amount of information is stored and replicated almost flawlessly!
DNA ReplicationINTERPHASE: Before a cell divides, its DNA is
replicated
Semi Conservative replication: Two strands of a DNA molecule are separated, each ONE can be used as a template to produce a complementary strand.
Each template and its new complement together then form a new DNA double helix, identical to the original.
Before replication can occur, the length of the DNA double helix about to be copied must be unwound. INTERPHASE
The two strands must be separated, much like the two sides of a zippper: helicase
The enzyme DNA polymerase then moves along the exposed DNA strand, joining newly arrived nucleotides into a new DNA strand that is complementary to the template.
Mitosis 1 diploid cell to 2 diploid
daughter cells
Interphase: G1 G2 and S G1 primary checkpt
Kinetochore of centromere
Amimal: cleavage furrow
Plant: cell plate
Prokaryotes: binary fission
CDK’sThe Cell Cycle regulated by:
cyclin-dependent kinases is regulated by binding to cyclins,
Cyclins: levels vary during the cell cycle.
Levels of CDK-molecules(kinases) are constant during the cell cycle, their activities vary because of the regulatory function of the cyclins.
CDK’sCell replication of genetic material, followed by:
a) Binary fission in prokaryotes and plastids (mitochondria , chloroplasts). In binary fission: asexual reproduction, a cell divides into two daughter cells after replication.
b) Budding (yeast, spores, Hydra) asexual reproduction in which a new organism buds from a cell protuberance: unequal fission.
c) Mitotic division of somatic cells
c) Meiotic division of germ cells (sexual reproduction)
Cell Cycle ControlsAnchorage dependent: will only grow when
anchored to some tissue (or inside a culture)
Density Dependent inhibition: stop growing when crowded.
Meiosis ISTEP ONE MEIOSIS I: This is basically like the
PMATI of a regular mitosis. Homologous chromosomes split
Meiosis is different because crossing-over. Prophase I
crossing over: an exchange of genes from 1 homologous chromosome to the other (genes from the chromosome you got from mom go onto the chromosome you got from dad.
This is why your children will not look exactly like their Nana or Grandpa….
Recombinant phenotypeLinkage maps
Recombination:Unlinked genes: independent assortment of
chromosomesLinked genes: crossing over
Recombinant phenotype:Mom: brown hair and brown eyesDad: Blond hair and blue eyesBaby: Brown hair and blue eyes
Meiosis IISTEP TWO MEIOSIS II:
In Metaphase II all of the chromosomes line up along the center of the cell
Anaphase II shows the Sister Chromatids split
Each daughter cell will get one-half of the DNA
The cell membrane begins to pinch. When it's all over, you are left with four haploid cells that are called gametes.
Mendel’s First Law Mendel's First Law is the law of "Segregation”
Humans are Diploid. This means you get two alleles for each trait.
Segregation: you can only get ONE allele from mom. Only ONE from dad.
Mom has 2 alleles…. Which one she passes to you (her egg) is random.
In eye color B Brown is dominant. Blue (b) is recessive.
If mom has Brown eyes she could be BB or Bb. She can only pass ONE allele on in her egg. She passes Either B or b
Basis for Punnett Squares
Segregation - If mom had the genotype AaBb she would make four kinds
of gametes(eggs): they would contain the combinations of either AB, Ab, aB or ab.
A is dominant (big feet): a is recessive (little ft)
B is dominant (black hair):b is recessive(blond)
So, mom would pass on either:
Big feet & black hair (AB),
big feet and blonde hair (Ab)
Little feet and black hair (aB)
Little feet and blonde hair (ab)
Punnett SquareA punnett square is used to predict an expected
outcome of
a particular cross or
breeding experiment.
True breeding
Test cross
Independent assortmentMendel's Second Law is the law of "Independent
Assortment".
Homologous chromosomes line up randomly Not all blues to the left and red to the right
Offspring does not get all chromosomes from maternal nana or grandpa from mom
Independent Assortment
Genetic variation contributes to Evolution
Mutations create different versions of genes
Mechanisms for variation in Sexual: Independent Segregation of alleles Independent assortment of chromosomesCrossing over (prophase I)Random fertilization
Non Mendelian GeneticsSome traits are not passed on the way the traits
Mendel studied were. Incomplete dominanceCo dominanceMultiple allelesEpistasis: gene at one site effected by gene at
anotherPleiotropy: gene with multiple phenotypic effectsPolygenic inheritance: mult. Genes involved:
usually phenotype is on a scale: height, skin pigmentation
Incomplete DominanceIncomplete dominance is a form of intermediate
inheritance in which one allele for a specific trait is not completely dominant over the other allele. This results in a combined phenotype.
Codominance A condition in which both
alleles of a gene pair in a heterozygote are fully expressed, with neither one being dominant or recessive to the other.
Multiple AllelesAny set of three or
more alleles or alternative states of a gene.
Only two of which can be present in an organism at a time.
Responsible for differences in expressions of a given trait. Example: brown eyes v. green eyes.
PleiotropyMost genes have
multiple phenotypic effects. The ability of a gene to affect an organism in many ways is called pleiotropy.
EpistasisEpistasis occurs
when a gene at one locus alters or influences the expression of a gene at a second loci. In this example, C is for color and the dominate allele must be present for pigment (color) to be expressed.
Polygenetic InheritanceQualitative variation usually indicates polygenic inheritance. This occurs when there is an additive effect from two or more genes. Pigmentation in humans is controlled by at least three (3) separately inherited genes.
DiseasesPoint mutation
Point mutation: effect 1 gene
Substitution: change 1 base pair: may still get same amino acid, or 1 different amino acid
Addition/deletion: change whole chain thereafter
Diseases caused by Point Mutation
Cystic Fibrosis: Mutation in gene involved in movement of water and stuff in
and out of cell This causes the build up of thick, sticky mucus
Sickle Cell Anemia
Colorblind: Genetic disease- (X-link): loss of cones in retina
Tay Sachs disease:Genetic Disease – inherited- caused by mutation in gene to
break down fatty substance…. Get lethal accumulation of fatty subst. in brain and spinal cord
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DiseasesGenetic (dominant/recessive)
Dominant
Huntingtons
Nuerofibromatosis
Marfan
Recessive
Cystic Fibrosis
Tay Sachs
Sickle cell anemia
phenylketenuria
Sex linked disorders (recessive)
Red green color blindness- malfunction in light sensitive cells in the eye
Hemophilia- lack one or more proteins needed for blood clotting
Duchenne muscular dystrophy- progressive weakening of muscles and loss of coordination
Sex linked recessive
Common Chromosomal Abnormalities
http://anthro.palomar.edu/abnormal/abnormal_4.htm
Two Main CategoriesStructural modification Irregular number
Typically result from nondisjunction during meiosis
Polyploidy-complete multiples of sets of chromosomes (23+23+23)
Aneulploidy-addition or loss of chromosomes within a set (23+22)
Autosomal Defects
http://anthro.palomar.edu/abnormal/abnormal_4.htm
Down’s Syndrome
Typically trisomy of chromosome 21
Some have translocation of 21 to 14 or 15
75-80% of Down syndrome children are born to women under 35
Monosomy
Only one set of chromosomes remains after fertilization
All fetuses will spontaneously abort
Female Abnormalities Male Abnormalities
http://anthro.palomar.edu/abnormal/abnormal_4.htm
Metafemale(XXX) Unusually tall, low to
normal intelligence Normal sex
characteristics, fertile
Turner Syndrome (XO) Ovaries do not develop,
and do not ovulate Lack secondary sex
characteristics Slight mental retardation
Klinefelter Syndrome (XXY) High-pitched voice Asexual to feminine body
type Low testosterone, sterile 1 in 500
XYY Syndrome Unusually tall, severe acne High testosterone levels,
possibly leading to violence
Sex Chromosome Abnormalities