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Transcript of 1 Mendelian Inheritance... the outward physical manifestation of internally coded, inheritable,...
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Mendelian Inheritance
... the outward physical manifestation of internally coded, inheritable, information.
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Genetics vs Heredity?
Genetics: the branch of biology that studies heredity
Heredity: the passing of characteristics (or traits) from parents to offspring
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Gregor Mendel
Father of Genetics
1823-1884Monk in
Austria/Czech Republic
Experimented with garden peas
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Mendel…Why do you think?
His experiments were successful?He used peas?He controlled his experiments?
How did he do it?Why would his profession be
beneficial?
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Short
Tall
Tall
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Mendel’s Hypotheses
Each parent has two factors (alleles)
Each parent gives one of those factors to the offspring
Tall has TTShort has ttTall is dominantShort is recessive
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TT tt
T t
Tt
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TT TT
T T
TT
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tt tt
t ttt
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A Monohybrid cross..What’s the answer?The original parents differ by what?The original parents are called the?Their offspring are called what (the
kids)?And their offspring are called what
(the grandkids)?
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Discovery of Chromosomes in 1900 Confirms Law of SegregationChromosomes
are in pairsEach
chromosome has one of the allele pairs for each trait
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Homologous Chromosomes
Chromosomes of the same pairEach homologue will have one
allele for a paired geneHomologous chromosomes pair
up during meiosisOnly one of each homologue will
be in each gamete
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Chromosomes line up in a double row.
Meiosis Metaphase
Assume a T allele on each red chromatid and a t allele on each blue chromatid
T T t t
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Chromosomes separate
Each each daughter cell gets doubled chromosomes
T T t t
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Doubled Chromosomes Separate in Second Meiotic Division
T T t t
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Each gamete will have a T allele or a t allele
T T t t
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Allele
Member of a paired gene– One allele comes from each parent
Represented by a single letter
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Mendel’s Law of Dominance
Dominant alleles are expressedRecessive alleles are not
expressed in the presence of a dominant allele– Recessive alleles are only expressed
if both alleles are present
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Gene
A unit of heredity that controls the development of one trait
Made of DNAMost genes are
composed of two alleles
My genes are Tommy genes!
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Keeping Up Quick Check:
What is the relationship between DNA & genes & homologs ^ homolgous chromosomes?
Can you draw a picture?
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Homozygous
Both alleles alikeAA or aa
A A a a
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Heterozygous
Alleles are differentAa
A a
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Law of Segregation
Mendel’sGametes have 1 allele for each trait2 alleles for each trait separate
during meiosis During fertilization, the alleles for that trait reunite.
This happens at random to create individuals of the next generation.
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Genotype
Genetic make upRepresented by allelesTT & Tt are genotypes for tall pea
plants
This is the "internally coded, inheritable information" carried by all living organisms.
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PhenotypeThe
characteristicGenotype
determines the phenotype
Tall is a phenotype
“Think adjective!”
Descriptive
This is the "outward, physical manifestation" of the organism.
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A flower….Phenotype: red
flowersCells contain red
granules & enzymes help convert colorless pigment into red pigment
Most enzymes are proteins
Most traits are produced by the action of proteins.
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Sickle Cell AnemiaRBCs sickle
shapedAnemiaPainStrokeLeg ulcersJaundiceGall stonesSpleen, kidney &
lungs
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Sickle Cell Anemia
Recessive allele, s codes for hemoglobin S – Long rod-like molecules– Stretches RBC into sickle shape
Homozygous recessive, ss have sickle cell anemia
Heterozygous, Ss are carriers
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Albinism
Lack of pigment– Skin– Hair– Eyes
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Amino Acids Melanin PigmentEnzyme
A a
AA = Normal pigmentation
Aa = Normal pigmentation
aa = Albino
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PKU Disease
Phenylalanine excess
Mental retardation if untreated
Molly’s Story
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Phenylalanine TyrosineEnzyme
P p
PP = Normal
Pp = Normal
pp = PKU
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A man & woman are both carriers (heterozygous) for albinism. What is the chance their children will inherit albinism?
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AA = Normal pigmentation
Aa = Normal pigmentation (carrier)
aa = Albino
Man = Aa Woman = Aa
A
a a
A
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A
a
a
A AA
Aa
Aa
aa
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AA
Aa
Aa
aa
Genotypes1 AA, 2Aa, 1aa
Phenotypes
3 Normal
1 Abino
Probability
25% for albinism
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A man & woman are both carriers (heterozygous) for PKU disease. What is the chance their children will inherit PKU disease?
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p
p
PPP
Pp
Pp
pp
P
PP = Normal
Pp = Normal (carrier)
pp = PKU disease
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PP
Pp
Pp
pp
Genotypes1 PP, 2Pp, 1pp
Phenotypes
3 Normal
1 PKU disease
Probability
25% for PKU disease
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A man with sickle cell anemia marries a woman who is a carrier. What is the chance their children will inherit sickle cell anemia?
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s
s
s Ss
Ss
ss
ss
S
SS = Normal
Ss = Normal (carrier)
ss = Sickle Cell
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Ss
Ss
ss
ss
Genotypes2 Ss, 2ss
Phenotypes
2 Normal (carriers)
2 Sickle cell
Probability
50% for Sickle cell
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Dwarfism = D
Normal height = d
DD = Dwarfism
Dd = Dwarfism
dd = Normal height
Dwarfism
Oddly a dominant trait
Dwarf Band
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A man with heterozygous dwarfism marries a woman who has normal height. What is the chance their children will inherit dwarfism? Dwarfism is dominant.
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d
d
D Dd
dd
Dd
dd
d
DD = Dwarf
Dd = Dwarf
dd = Normal
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Dd
dd
Dd
dd
Genotypes2 Dd, 2dd
Phenotypes
2 Normal
2 Dwarfs
Probability
50% for Dwarfism
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Law of Independent Assortment
The inheritance of one gene does not influence the inheritance of another gene if they are on separate chromosomes.
The gene for albinism does not affect the gene for dwarfism
The random distribution of alleles occurs gamete formation & genes on chromosomes sort independently during meiosis
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A Dihybrid Cross
A heterozygous tall plant that is also heterozygous for yellow seeds self pollinates.
Tall and yellow seeds are dominant to short and green seeds.
What are the genotypes & phenotypes of the offspring in fractions?
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Tall Yellow
TtYy
TY
What gametes can each parent produce?
TytYty
TtYy
TYTytYty
Tall Yellow
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9 Tall-Yellow
Match gametes on a Punnent Square
TY
Ty
tY
ty
TY Ty tY ty
TtYy
TtYy
TTYY TTYy TtYY
TTYy TTyy Ttyy
TtYY TtYy ttYY ttYy
TtYy Ttyy ttYy ttyy
3 Tall-Green
3 Short-Yellow
1 Short-Green
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A man with blue eyes and normal height marries a woman with heterozygous brown eyes and homozygous dwarfism. What are the possible phenotypes of their children? Dwarfism & brown eyes are dominant. (Calculate in % & ratios)
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Normal height-Blue
ddbb
db
What gametes can each parent produce?
DDBb
DBDbDB
Dwarf-Brown
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The Answers:
Dwarf-Brown eyes
Dwarf-blue eyes
Normal height-Brown eyes
Normal height-Blue eyes
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The End of Mendlian Genetics
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Pedigree
Shows relationships
Used to determine inheritance patterns
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Pedigree SymbolsFemale
Male
Person has a trait
Parents
Children
Parents
Parents closely related
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Dominant Pedigree
Affected individual must have a parent with the trait
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Genotypes
AA
Aa
aaaa
aaaaaa
aa
Aa
Aa
Could have either genotype
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Recessive Pedigree
May appear when neither parent has the trait
If both parents have the trait, all the children will inherit it
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Genotypes
aa aa aaaa
aaaa
aa
aa
Aa
Aa
Aa
Aa
AAAa AaAA
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Is this a dominant or recessive pedigree?
Click for answer
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Recessive pedigree
Recessive because it appears in individuals when their parents do not have the trait.
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Give genotypes for marked individuals
Click for answer
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Genotypes
aa
Aa
AA or Aa
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Is pedigree dominant or recessive?
Click for answer
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Dominant pedigree
Dominant because all affected individuals inherited trait from a parent
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Give genotypes for marked individuals
Click for answer
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Give genotypes for marked individuals
Aa
aa
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The End