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Gregor Mendel

Mendel lived from 1822 to 1884. He was an Augustinian monk. An accomplished scholar, he studied physics, botany, and mathematics. His now famous heredity experiments were performed on the garden pea (Pisum sativum) between the years 1856 and 1868. Sadly, the importance of his findings were not appreciated until 1900, years after his death.

the Garden Pea


It is easy to cultivate. In Austria (now the Czech Republic), the pea has a one year growth cycle. The plant displays easy-todistinguish characteristics. It is easy to control pollination. Another advantage is that a vegetable garden smells better than a cloister full of mice.

Mendel studied pea traits with two distinct forms.

True-breeding plants

Mendel spent two years assuring that the seed stock he had acquired all bred true. Plants were allowed to self-pollinate, and dissimilar offspring were discarded from the study.

Making Monohybrids

What happens when true breeding plants with two distinct forms of a trait are crossed?

Although the parental generation (P1) shows both traits, progeny in the filial generation (F1) show only one form of the trait. This outcome was reciprocal for sex. The observed trait is said to be dominant.

Monohybrid Cross
Hybrid parents (the F1 generation from the previous cross) show the dominant trait (tall). After self crosses, offspring in the F2 generation: 3:1 tall:short Mendel concluded that among the hybrid parents the short trait was hidden but not absent. Such traits are said to be recessive.

Mendels data
1. 2. 3. 4. Crossed true-breeding plants differing at one of seven traits. Crossed hybrid offspring to each other (all show dominant trait). Counted offspring of hybrid crosses. Performed reciprocal crosses.
# with dominant trait 5,474 6,022 705 # with recessive trait 1,850 2,001 224 Ratio dom : rec 2.96 : 1 3.01 : 1 3.15 : 1

Trait
Seed form Seed color Seed coat color

Offspring
7,324 8,023 929

Pod form
Pod color Flower position

1,181
580 858

882
428 651

299
152 207

2.95 : 1
2.82 : 1 3.14 : 1

Stem length

1,064

787

277

2.84 : 1

Dihybrid cross

Next, Mendel studied the transmission of traits when crossing plants with two different traits. Once again, in the F1 generation all plants were similar. In the F2 generation, he consistently found a ratio of 9:3:3:1.

Mendels Postulates

The rule of paired association

The rule of dominance and recessiveness

Looking at the data from his various crosses (3:1, 9:3:3:1, 3:3:1:1, etc.) and assuming parsimony, Mendel determined that inheritance factors come in twos. Mendel observed that one of the two forms of each trait could be masked even though it continued to be passed on to future generations. During the formation of gametes, the paired inheritance factors separate so that any one gamete may receive one or the other with equal likelihood. When looking at dihybrid crosses, Mendel observed that the inheritance factors separate independently of one another during gamete formation.

The rule of random segregation

The rule of independent assortment

What dominant and recessive do not mean

Dominant alleles are neither better nor stronger than recessive. Dominant alleles are not usually more common in a gene pool. Both recessive and dominant alleles can be normal or can lead to disease.

A change in terminology

gene the fundamental unit of heredity, a DNA sequence that codes for something allele one of the possible sequences for a specific gene homozygous for a diploid individual to have two identical alleles for a specific gene heterozygous for a diploid individual to have two different alleles for a specific gene phenotype the observable or measurable traits of an individual genotype the specific alleles present in an individual Punnett square a diagram for understanding potential genetic contributions to offspring

Monohybrid cross revisited

Two heterozygous parents produce gametes with T or t allele equally frequently.

F2 genotypes 1/4 TT : 1/2 Tt : 1/4 tt


F2 phenotypes 3/4 tall : 1/4 short

Dihybrid cross revisited

Parents heterozygous for two different genes produce gametes with randomly segregated and independently assorted alleles.
F2 genotypes: 1/16 RRYY 2/16 RRYy 2/16 RrYY 4/16 RrYy 1/16 rrYY 2/16 rrYy 1/16 RRyy 2/16 Rryy 1/16 rryy

F2 phenotypes: 9/16 round, yellow 3/16 wrinkled, yellow 3/16 round, green 1/16 wrinkled, green

Test Crossing

A testcross is the mating of an individual, usually of unknown genotype exhibiting the dominant trait or traits, with a homozygous recessive individual. In experiments, a testcross is often a backcross, for example cross pollinating a hybrid with its recessive parent.

Basic rules of probability


The probability of an event is a measure of the chance or likelihood that that event might occur. Probability is often functionally defined by the frequency of an event, the proportion of times the event occurs over a long number of trials.

The sum rule states that the probability one of two or more mutually exclusive events will occur is equal to the sum of their individual probabilities. The product rule states that the probability two or more independent events will occur is equal to the product of their individual probabilities.

There are other definitions for probability, including an a priori theoretical definition and the Bayesian definition, but they are beyond the scope of this course.

Pedigrees

It is not always ethical or practical to control reproductive crosses. Pedigree analysis examines the inheritance of a trait in a preexisting family. The symbols used in charting a pedigree have been standardized and are shown here.

Mendelian principles in use


Ellens brother Michael has sickle cell anemia, an autosomal recessive disease.
What is the chance that Ellen passed a sickle cell anemia allele (a) to her child?
Aa Aa aa

Ellen and Michaels parents must be carriers. A a

A
a

AA Aa
Aa

aa

Ellen is not affected and cannot carry aa genotype

chance Ellen is a carrier = 2/3 chance child inherits sickle cell allele = 1/2 Overall chance child carries sickle cell allele from Ellen = 2/3 x 1/2 = 1/3

Ellen Michael ?