mendelian genetics
DESCRIPTION
Mendelian Genetics. Genetics: The Basics. Allele- An alternative form of a gene Diploid organisms have one copy on each homologous chromosome Represented by letters: Capital letter = dominant form Lower case letter = recessive form Example= Eye Color Controlled by 2 alleles - PowerPoint PPT PresentationTRANSCRIPT
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Mendelian Genetics
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Genetics: The Basics• Allele- An alternative form of a gene
• Diploid organisms have one copy on each homologous chromosome
– Represented by letters:• Capital letter = dominant form • Lower case letter = recessive form
• Example= Eye Color– Controlled by 2 alleles – Blue Eyes = bb– Brown eyes= Bb or BB
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Dominant allele-fully expressed in the organism's appearance
Recessive allele-no noticeable effect on the organism's appearance
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Genetics: The Basics– Heterozygous: Have 2 different forms of the allele
• Example:– Brown Eyes = Bb = heterozygous
– Homozygous: Have 2 of the same forms of the allele• Example:
– Blue Eyes = bb = homozygous recessive– Brown Eyes = BB = homozygous dominant
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Genetics: The Basics– Genotype = the genetic makeup of an organism
• Example = BB, Bb, bb
– Phenotype = the physical expression of genes• Example =
– Brown Eyes = phenotype of either the BB or Bb genotype
– Blue Eyes= phenotype of the bb genotype
Remember that phenotype is not necessarily an appearance-It can be things like enzyme production, behavior, etc!!
It is ANY expression of a gene!!
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Gregor Mendel
*1843 entered monastery
*1851-53 studied at Univ. of Vienna
*1857 started breeding garden peas
* 1860 started forging data!!
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MENDEL'S MAIN QUESTION
Do units of inheritance retain integrity (preserved) or
blend????
Sample Question: If you cross a purple flower with a white flower are these flower colors retained in future crosses or are they blended to form an intermediate color?
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Law of Segregation-two alleles for a character are packaged into separate gametes
2 plants crossedSelf-
fertilized
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Mendel's findings
1. Alternative version of genes (alleles) account for variations in inherited characters
Purple flowersWhite flowers
Homologous chromosomes
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Mendel's findings
2. For each character, an organism inherits two alleles, one from each parent.
Purple flowersWhite flowers
maternal
paternal
Homologous chromosomes
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Mendel's findings
3. If two alleles differ, the dominant allele is fully expressed in the organism's appearance.
Purple flowersWhite flowers
recessive
dominant
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Mendel's findings
4. The two alleles for each character segregate during gamete production.dominant recessive
PP pp Seed shape
P p Gametes
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Punnett SquarePredicts the results of a genetic cross between individuals with known genotypes
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Rules for Genetic Problems1. Identify traits (alleles) and assign letters to represent the various traits: capital letters for dominant traits; lower case letters for recessive traits.
3. Draw individual gametes with corresponding letter for trait.
2. Set up parental cross.
7. Set up Punnett square to identify individual genotypes and phenotypes for F2 offspring.
4. Identify F1 offspring phenotype and genotype.
5. Setup F1 cross.
6. Draw individual gametes with corresponding letter for trait.
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EXAMPLE: SEED COLORdominant recessive
CC cc
c
C c c
C
C
c
CCC
Cc Cc
cc
3
1
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EXAMPLE: POD SHAPEdominant recessive
s
S s s
S
S
s
SSS
Ss Ss
ss
3
1
SS ss
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Monohybrid CrossFollows single trait
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Test Cross
Breeding a homozygous recessive with a dominant phenotype (unknown genotype) can determine an unknown allele.
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In pea plants, spherical seeds (S) are dominant to dented seeds (s). In a genetic cross of two plants that are heterozygous for the seed shape trait,
what fraction of the offspring should have spherical seeds?
Ss Ss
F1 generation, test cross:
What is the genotypic ratio?What is the phenotypic ratio?
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The test cross
To identify the genotype of yellow-seeded pea plants as either homozygous dominant (YY) or heterozygous (Yy), you could do a test cross with plants of genotype _______.
A. y B. Y C. yyD. YY E. Yy
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Predicting the results of a test cross A test cross is used to determine if the genotype of
a plant with the dominant phenotype is homozygous or heterozygous. If the unknown is
homozygous, all of the offspring of the test cross have the __________ phenotype. If the unknown is heterozygous, half of the offspring will have the
__________ phenotype.
A. dominant, recessive B. recessive, dominant
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•Question: How are two traits inherited? •DIHYBRID CROSS
•Experimental Approach: A cross involving two true-breeding traits.
System: Pea Plants; seed color (Y/y) and seed shape (S/s).
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F1 Generation
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F1 Generation
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1. Each of the male gametes types (SY, Sy, sY, sy) can fuse with each of the female gametes types (SY, Sy, sY, sy).
2. 16 possible combinations of gametes are possible.
3. We will see that there are 9 possible genotypes and 4 possible phenotypes.
4. The two parental phenotypes, and two new phenotypes were obtained.
F1 Generation
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Dihybrid CrossFollows two traits
9:3:3:1 RATIO
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The phenotypes of two independent traits show a 9:3:3:1 ratio in the F2generation. coat color is indicated by B (brown, dominant) or b (white)tail length is indicated by S (short, dominant) or s (long).
If the children mate with each other, in the F2 generation all combinations of coat color and tail length occur: 9 are brown/short (purple boxes), 3 are white/short (pink boxes), 3 are brown/long (blue boxes) and 1 is white/long (green box).
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Dihybrid Cross
In summer squash, white fruit color (W) is dominant over yellow fruit color (w) and disk-shaped fruit (D) is dominant over sphere-shaped fruit (d).. If a squash plant true-breeding for white, disk-shaped fruit is crossed with a plant true-breeding for yellow, sphere-shaped fruit, what will the phenotypic and genotypic ratios be for:a. the F1 generation? b. the F2 generation?
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WD Wd wD wd
WD WWDD WWDd WwDD WwDd
Wd WWDd WWdd WwDd Wwdd
wD WwDD WwDd wwDD wwDd
wd WwDd Wwdd wwDd wwdd
Phenotypic ratios:9/16 will have white, disk-shaped fruit3/16 will have white, sphere-shaped fruit3/16 will have yellow, disk-shaped fruit1/16 will have yellow, sphere-shaped fruitThis is a 9:3:3:1 phenotypic ratio
Genotypic ratios: 1/16 will be homozygous dominant for both traits (WWDD)2/16 will be homozygous dominant for color and heterozygous for shape (WWDd)2/16 will be heterozygous for color and homozygous dominant for shape (WwDD)1/16 will be homozygous dominant for color and homozygous recessive for shape (WWdd)4/16 will be heterozygous for both traits (WwDd)2/16 will be heteozygous for color and homozygous recessive for shape (Wwdd)1/16 will be homozygous recessive for color and homozygous dominant for shape (wwDD)2/16 will be homozygous recessive for color and heterozygous for shape (wwDd)1/16 will be homozygous recessive for both traits (wwdd)This is a 1:2:2:1:4:2:1:2:1 genotypic ratio
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Law of Segregation-Every individual possesses a pair of alleles for any particular trait and that each parent passes a randomly selected copy (allele) of only one of these to its offspring.
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Law of Independent Assortment- Separate genes for separate traits are passed independently of one another from parents to offspring. These allele pairs are then randomly united at fertilization.
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Inheritance that diverges from Mendel's inheritance
GENE INTERACTIONS
The relationship between the genotype and
phenotype is rarely simple.
* Each character is rarely controlled by one gene
*Each gene usually has more than two alleles, with one not always being dominant over the other
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Incomplete Dominance
Heterozygotes show a distinct intermediate phenotype, not seen in homozygotes
Not BLENDED
Traits are separable in
further crosses
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Most genes have more than two alleles in a population. (IA, IB, I)
In CODOMINANCE, both alleles are expressed and functional, though they may be different.
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PleiotrophicMost genes affect more than one phenotypic character.
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Pleiotropy:AlbinismA single defect in one of the enzymes catalyzing tyrosine to melanin can affect multiple phenotypic characters, from eye color to skin color to hair color.
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Epistasis
A gene at one locus alters the phenotypic expression of a gene at a second locus.
bb with dominant C alleleresults in brown mouse
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Polygenic Inheritance
Additive effect of two or more genes on a single phenotypic character.
SKIN COLOR
Controlled by at least 4 different genes
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Sex-linked traitsIn humans, 2 of our 46 chromosomes are
classified as sex chromosomes
•Females = XX•Carried on ova
•Males = XY•Carried on sperm
In females, only 1 X chromosome is activeSex linked traits usually aren’t expressed-
In males, their only X chromosome is active•No other X chromosome to block sex linked trait
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Sex-linked traitsIn humans, the genes for colorblindness are both located on the X
chromosome with no corresponding gene on the Y.
Strawberries as they would appear to someone who is red/green colorblind.
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Sex Linked Traits
• Alleles are expressed on each of the sex chromosomes
• Female: XAXA or XAXa or XaXa
• Male: XAY or XaY
Setting up a punnet square for sex-linked traits:Mom= XAXa Dad = XAY
XA Xa
XA
Y
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Mom is carrier, dad does not have x-linked recessive disorder
Mom isn’t carrier, dad has x-linked recessive disorder
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Sex Linked Traits• Can a female end up with an X-linked trait????
– Example = Sex-linked baldness • assume that baldness (b) is recessive • Full head-o-hair (B) is dominant
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Hemophilia is an X-linked recessive disorder characterized by the inability to properly form blood clots.
.
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Y Linked Traits
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Recessive Allele Disorders
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Achondroplasia
*Form of dwarfism (dominant allele)
*Heterozygous/
Homozygous dominant individuals have dwarf phenotype
*99.99% of population are homozygous recessive
Dominant Allele Disorders
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*Heterozygous/
Homozygous dominant individuals have 6 finger phenotype
*399 out of 400 have 5 digits/appendage: homozygous recessive
Dominant Allele Disorders Polydactyly
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Pedigree AnalysisInformation about
presence/absence of phenotypic trait is collected from individuals in a family across generations.
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Having the past help predict the future
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DOMINANT TRAITRECESSIVE TRAIT (Allelic to left column)
Brown eyes PTC taster Widow's Peak Middigital hair Tongue roller Detached earlobe A and B blood type (codominant)
Pattern baldness (dominant in males)
Blue eyes (more complex, simplified here) PTC non taster Lack Widow’s peak Hairless mid digits Cannot roll tongue Attached earlobe Type O blood type Pattern baldness (recessive in females)
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Common Heritable Traits
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Common Heritable Traits
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Common Heritable Traits
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Common Heritable Traits
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Common Heritable Traits
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Case Study: In Sickness and In Health
Greg and Olga’s Trip to the Genetic Counselor
Work in groups of 3-4Write down answers to turn in
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Part 1: Pedigree Construction10 minutes
• What would the pedigree of Greg and Olga’s families look like?
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Part 2: Autosomal Dominant Traits10 minutes
• What is an autosome???
• Do autosomal dominant disorders skip generations?
• Could Greg or his mother be a carrier of the gene that causes myotonic dystropy (MD)? Why?
• Is there a possibility that Greg’s aunt or uncle is homozygous for the MD gene? Why?
• Symptoms of MD sometimes don’t show up until after age 50. What is the possibility that Greg’s cousin has inherited the MD gene?
• What is the possibility that Greg and Olga’s children will inherit the MD gene?
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Part 3: Autosomal RecessiveTraits10 minutes
• What are the hallmarks of an autosomal recessive trait (list four)?
• What is it about the inheritance pattern of factor VIII deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait?
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Part 4: Sex-Linked Inheritance10 minutes
• What are the characteristics of X-linked inheritance?
• Why does a son never inherit his father’s defective X chromosome?
• What is required for a female to display a sex-linked recessive trait?
• Referring to the pedigree you drew in Part 1, mark the persons who are carriers of the factor VIII deficiency gene.
• What is the chance that Olga carries the gene for factor VIII deficiency? Calculate the probability that she will pass it to her offspring. Will male children be affected in a different way than female children?
• What is the chance that Greg carries the factor VIII gene? Can he pass the gene on to his sons? His daughters? How will each be affected?