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GeneticsHonors BiologyMs. Pagodin
Gregor Mendel (1822-1884) Austrian Monk, “Father of Genetics”
Bred Garden Peas (Pisum sativum)
Developed a simple set of rules to accurately predict patterns of heredity which form the basics of genetics
Years later we found that traits are determined by genes encoded in DNA
Heredity History Heredity – transmission of traits from parents to
offspring… before DNA was discovered it was one of the great mysteries of science!
Modeled experiments after British farmer T.A. Knight who bred garden peas and concluded purple flowers show a stronger tendency to appear than white flowers
Mendel used a mathematical approach and counted the number of each kind of offspring
Why did Mendel choose peas? Many easily distinguishable characteristics
2 possible traits (forms) of each characteristic
Quantitative – he could count plants with or with out trait
P. sativum were small, easy to grow, mature quickly, and produce lots of offspring
Pea plants can self-pollinate Male (pollen) and Female (pistil) parts are enclosed in the same
flower and it can fertilize itself
Pea plants can cross-pollinate Transfer pollen from one plant to the pistil of another plant
Anatomy of a flowering plant
Self pollination vs. Cross Pollination
Mendel’s Experimental Design Parental Generation (P generation):
ensure that ea/plant was true breeding – all offspring display only one form of the characteristics for subsequent generations
First Filial Generation (F1 generation): Mendel cross pollinated 2 plants from P generation w/ contrasting traits, offspring called F1 generation
Second Filial Generation (F2 generation): Mendel allowed the F1 generation to self-pollinate, offspring called the F2 generation
Mendel then counted his results…
Mendel’s Results F1
The recessive traits disappears
The expressed trait is said to be dominant
F2 The recessive trait
reappears!! Mendel obtained a 3:1 ratio
of dominant to recessive for each trait of the F2 generation!
Mendel proposed a Theory of Heredity Parents pass on “units of information” that operate in
the offspring to produce a trait (today we know these to be genes!)
For each characteristic there are 2 factors or alleles(1 from mom and 1 from dad) at ea/locus Homozygous - if 2 of the same alleles are inherited (true-
breeding) Heterozygous – if 2 different alleles are inherited (hybrid)
Genotype – combination of alleles an individual has Phenotype – physical appearance as a result of the
alleles inherited
Mendel’s Theory Became Laws of Heredity Law of Segregation
The members of each pair of alleles separate when gametes are formed
Law of Independent Assortment Pairs of alleles separate independently of one another
during gamete formation (only applies to genes far apart on the same chromosome or separate chromosomes)
Mendel published paper in 1866 – no interest, rediscovered in early 1900’s
Analyzing Heredity Use letters to represent alleles
Capital letters represent dominant alleles Lowercase letters represent recessive alleles Same letter designates 2 forms of the same trait
(letter of dominant trait) Ex. Tallness in pea plants
T = tall dominant allele t = short recessive allele
Genotype vs. Phenotype 2 alleles for each trait make up genotype
Genotype Phenotype
Homozygous dominant
TT Tall
Heterozygous Tt Tall
Homozygous recessive
tt Short
Probability Probability – likelihood that a specific event
will occur Probability = # of specific outcome
total # of all possible outcomes
Use this formula to predict the outcome of a genetic cross
Monohybrid Cross Monohybrid Cross - provides data about 1 pair of
contrasting traits Ex. Homozygous tall x homozygous short
Punnett Square – diagram used to predict the probable outcome of a cross
1. Write parental cross (genotypes)2. Draw box, genotype of 1 parent goes on one side, other parents
genotype on the other side3. Fill in the boxes with 1 allele from each parent to indicate possible
offspring genotypes4. Determine probability of traits5. Genotypic Ratio: homozygous dominant : heterozygous : homozygous recessive
6. Phenotypic Ratio: dominant: recessive
Test Cross Test cross is used to determine unknown
genotypes Cross unknown with a homozygous
recessive individual for that trait If ALL offspring show dominant trait, then the
unknown is homozygous dominant If any (about 1/2 ) offspring show recessive trait,
then the unknown is heterozygous
Do Now: Leslie has a long palmar muscle. Leslie has a brother, who
does not have a long palmar muscle. Leslie’s parents also lack the muscle. Leslie is married to Lamont, who does have the long palmar muscle. Their first two children are identical twin boys (Larry and Lance), who both have a long palmar muscle. Use the letters M and m to represent the alleles for this trait.
What are the genotypes of everyone in this problem? Leslie, Louis, Lamont, Larry, Lance, Leslie’s Parents
What is the most probable method of inheritance (dominant or recessive) for this trait? Explain.
Dihybrid Cross Dihybrid Cross involves 2 pairs of contrasting
traits Ex. Homozygous round yellow seeds (RRYY) x
homozygous green wrinkled seeds (rryy) Punnett Square has 16 boxes Determine possible allele combinations for each
parent and put on sides of Punnett square Fill in boxes with possible allele combinations for
offspring
Dihybrid Cross (RrYy x RrYy)
Extra Credit – Trihybrid Cross Round is dominant to wrinkled seeds Yellow seeds are dominant to green seeds Purple flower color is dominant to white flower
color Show a trihybrid cross, and use a Punnett
square to determine the phenotypic ratio for possible offspring from parents that are each heterozygous for all traits
Complex Patterns of Heredity Do not follow Mendelian Genetics
Incomplete Dominance Codominance Multiple Alleles Autosomal linked traits Sex linked traits Gene Interaction
Polygenic traits Epistasis
Incomplete Dominance Incomplete dominance
occurs when an intermediate form of the trait is displayed in heterozygous individuals
Ex. Snapdragons
Red x White = 100% Pink!
Codominance Codominance – 2 dominant alleles are both
expressed at the same time
Ex. Roan horses
Red x White horse
= 100% Roan horse
(has both red and white hair)
Do Now: Thomas has sickle cell but his wife, Susie,
does not have sickle cell. Their daughter, Kelly has both regular cells and sickle cells.
What pattern of inheritance does sickle cell follow? How do you know?
What is the probability that Kelly and her husband Regis (who does not have sickle cell) will have a child with all normal red blood cells?
Multiple Alleles Traits with more than 2
possible alleles Ex. Blood Type (A,B,
and O) 3 possible alleles IA,IB (dominant), i (recessive)
Linked Genes Discovered by Thomas Hunt Morgan (1910) Studied Drosophila melanogastar
4 pairs of chromosomes Breed every 2 weeks 100’s of offspring
Id 50+ Drosophila genes Wildtype– normal phenotype
Ex. Red eyes (w+) Mutant– mutant phenotype
Ex. White eyes (w)
Autosomal Linked Genes Linked Genes – on same
chromosome tend to be inherited together
Deviates from Mendel’s law of independent assortment
The further apart 2 genes are, the higher the probability that a crossover will occur between them and therefore the higher recombination frequency
Recombination frequency - % of offspring with new gene combinations (different from parents)
b+vg+ =gray body and normal wings bvg = black body and vestigial wings Test Cross: b+bvg+vg x bbvgvg Result:
965 gray-normal 944 black-vestigial 206 gray-vestigial 185 black noraml
most offspring demonstrated parental phenotypes
some some non-parental phenotypes also produced (called recombinants)
Genetic Recombination and Linkage Maps Unlinked Genes - typically see 50% freq of recombination for
any 2 genes located on different chromosomes due to independent assortment of metaphase I
Linked Genes – freq of recombination varies depending on distance between linked genes due to crossing over during prophase I
Using the freq of recombination can construct a genetic map (ordered list of loci along chromosome)
One map unit (centimorgans) = 1% recombination Ex. 3 drosophila gene pairs
b-cn 9.5%, cn-vg 9.5%, b-vg 17% Linear order: b---9.5----cn-----9.5----vg
Sex-linked Traits Crossed wildtype red-eyed female x mutant white-eyed male Concluded white-eye mutation linked to sex chromosome (X) Sex-linked traits – genes are found on the X chromosome
but not on the Y chromosome Females have 2 X chromosomes, therefore 2 alleles for each trait and
a heterozygous female would exhibit the dominant trait Males have only 1 X chromosome, therefore only 1 allele to
determine traits found on the x chromosome and will always exhibit that trait even if it is recessive
Ex. Sex-linked traits: Hemophilia, Red-Green color blindness, Male-Pattern baldness, Duchenne Muscular Dystrophy
Punnett Squares for Sex-linked Traits
Gene Interaction Function of gene product is related to
development of a common phenotype Discontinuous variation – qualitative
Epistasis – expression of one gene masks the expression of another gene
Continuous variation – quantitative Multiple Genes (Polygenic)– contribute to the
phenotype in a cumulative way
Polygenic (Multi-gene Inheritance)Polygenic Inheritance – several genes influence 1 trait,
therefore we see a variety of phenotypes and a continuum from one extreme to another
Sample Problem The size of the eggs laid by one variety of hens is determined
by 3 pairs of alleles. Hens with the genotype AABBCC lay eggs weighing 90 grams, and hens with the genotype lay eggs weighing 30 grams. When a hen from the 90g strain is mated with a rooster from the 30g strain, the hens of the F1 generation lay eggs weighing 60g.
How much does each allele contribute? What pattern of inheritance does this exemplify? If a hen and a rooster from this F1 generation are mated, what
will be the weight of the eggs laid by hens of the F2?
X Inactivation in Female Mammals Although female mammals inherit 2
copies of the X chromosome, one X chromosome becomes inactivated during embryonic development and is called a Barr Body
The inactivation of an X chromosome occurs randomly in each embryonic cell, therefore females consist of a mosaic of 2 types of cells
(active x from mom or active x from dad) Ex. Tortoise shell cats
Some cells express black fur and others express orange fur
Pedigree Analysis Pedigree - diagram of
family history of a trait or disease used to study heredity
By studying a pedigree, it is possible to infer the pattern of heredity
Analyzing a Pedigree1. Determine if trait is sex-linked or autosomal
Sex-linked usually seen in males Autosomal appears in both sexes equally
2. Determine if trait is dominant or recessive If every individual w/trait has a parent w/trait then it is
dominant If individual has parents w/o trait then it is recessive
3. Determine if the trait is determined by a single gene or several
If determined by a single recessive gene, than normal parents should produce affected children with a 3:1 ratio
If determined by several genes the proportion would be much lower
Example Pedigree Ex. Pedigree 1
Pedigree 2