Genetics: Mendelian
Lesson
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Simple Patterns of
Inheritance
What is Genetics?
Genetics is the branch of biology that deals with the transmission and
variation of inherited characteristics in particular chromosomes and DNA.
Genetics is the science of the way traits are passed from parent to
offspring. For all forms of life, the continuity of the species depends upon the
genetic code being passed from parent to offspring. Evolution by natural
selection is dependent on traits being heritable. Genetics is very important in
human physiology because all attributes of the human body are affected by a
person’s genetic code. It can be as simple as eye color, height, or hair color. Or it
can be as complex as how well your liver processes toxins, whether you will be
prone to heart disease or breast cancer, and whether you will be color blind.
Genetic inheritance begins at the time of conception. You inherited 23
chromosomes from your mother and 23 from your father. Together they form 22
pairs of autosomal chromosomes and a pair of sex chromosomes (either XX if
you are female, or XY if you are male). Homologous chromosomes have the same
genes in the same positions but may have different alleles (varieties) of those
genes. There can be many alleles of a gene within a population, but an individual
within that population only has two copies and can be homozygous (both copies
the same) or heterozygous (the two copies are different) for any given gene.
Pairs of Unit Factors, or Genes
Gregor Mendel proposed that paired unit factors of heredity were
transmitted faithfully from generation to generation by the dissociation and
reassociation of paired factors during gametogenesis and fertilization,
respectively. After he crossed peas with contrasting traits and found that the
recessive trait appeared in the F 2 generation, Mendel deduced that hereditary
factors must be inherited as separated units. This finding contradicted the belief
at that time that parental traits were blended in the offspring.
A gene is made up of short sections of DNA that are contained on a
chromosome within the nucleus of a cell. Genes control the development and
function of all organs and all working systems in the body. A gene has a certain
influence on how the cell works; the same gene in many different cells
determines a certain physical or biochemical feature of the whole body (e.g., eye
color or reproductive functions). All human cells hold approximately 21,000
different genes.
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Phenotypes and Genotypes
The observable traits expressed by an organism are referred to as its
phenotype. An organism’s underlying genetic makeup, consisting of both
physically visible and non-expressed alleles, is called its genotype. Johann
Gregor Mendel’s (1822–1884) hybridization experiments demonstrate the
difference between phenotype and genotype.
Mendel crossed or mated two true-breeding (self-pollinating) garden peas,
Pisum sativum, by manually transferring pollen from another mature pea plant of
one variety to the stigma of a separate mature pea plant of the second variety.
Plants used in first-generation crosses were called P 0, or parental generation one,
plants. Mendel collected the seeds belonging to the P 0 plants that resulted from
each cross and grew them the following season. These offspring were called the
F1, or the first filial (filial = offspring, daughter, or son), generation. Once Mendel
examined the characteristics in the F 1 generation of plants, he allowed them to
self-fertilize naturally. He then collected and grew the seeds from the F 1 plants to
produce the F2, or second filial, generation.
Po generation
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Figure 1. Cross between true-breeding pea plants
When true-breeding plants in which one parent had white flowers and one
had violet flowers were cross-fertilized, all the F1 hybrid offspring had violet
flowers. That is, the hybrid offspring were phenotypically identical to the true-
breeding parent with violet flowers. However, we know that the allele donated by
the parent with white flowers was not simply lost because it reappeared in some
of the F2 offspring. Therefore, the F1 plants must have been genotypically
different from the parent with violet flowers.
In his 1865 publication, Mendel reported the results of his crosses
involving seven different phenotypes, each with two contrasting traits. A trait is
defined as a variation in the physical appearance of a heritable characteristic.
The characteristics included plant height, seed texture, seed color, flower color,
pea pod size, pea pod color, and flower position. To fully examine each
characteristic, Mendel generated large numbers of F 1 and F2 plants, reporting
results from 19,959 F2 plants alone. His findings were consistent. First, Mendel
confirmed that he had plants that bred true for white or violet flower color.
Regardless of how many generations Mendel examined, all self-crossed offspring
of parents with white flowers had white flowers, and all self-crossed offspring of
parents with violet flowers had violet flowers. In addition, Mendel confirmed that,
other than flower color, the pea plants were physically identical.
Mendel conducted 2 main experiments to determine the laws of
inheritance. These experiments were:
1. Monohybrid Cross Experiment
2. Dihybrid Cross Experiment
While experimenting, Mendel found that certain factors were always being
transferred down to the offspring in a stable way. Those factors are now called
genes. Genes are called the units of inheritance.
The following are the terminologies to remember in solving and analyzing
the results of a Punnett square.
Monohybrid is the result of a cross between two true-breeding parents
that express different traits for only one characteristic.
Dihybrid is the result of a cross between two true-breeding parents that
express different traits for two characteristics.
Dominant traits are traits that appear to mask (or hide) other traits.
Recessive traits are traits that can be hidden in one generation and then
appear in the next.
Genotypic Ratio describes the number of times a genotype would appear
in the offspring after a test cross.
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Phenotypic ratio is the number of times a specific combination of alleles
appears in the predicted phenotypes of any offspring.
Figure 2. Monohybrid Cross Figure 3. Dihybrid Cross
Interpretation of the Punnett square of monohybrid cross and dihybrid cross
Genotypic ratio: 4 Heterozygous green Pod 4 heterozygous round and
yellow Phenotype: 4 green pea pods 4 round and yellow
The Punnett Square Approach for a Monohybrid Cross
A Punnett square applies the rules of probability to predict the possible
outcomes of a monohybrid cross and their expected frequencies.
When fertilization occurs between two true-breeding parents that differ in
only one characteristic, the process is called a monohybrid cross, and the
resulting offspring are monohybrids. Mendel performed seven monohybrid
crosses involving contrasting traits for each characteristic. Based on his results in
F1 and F2 generations, Mendel postulated that each parent in the monohybrid
cross contributed one of two paired unit factors to each offspring and that every
possible combination of a unit factor was equally likely.
To demonstrate a monohybrid cross, consider the case of true-breeding
pea plants with yellow versus green pea seeds. The dominant seed color is
yellow; therefore, the parental genotypes were YY (homozygous dominant) for
the plants with yellow seeds and yy (homozygous recessive) for the plants with
green seeds, respectively.
A Punnett square, devised by the British geneticist Reginald Punnett, can
be drawn that applies the rules of probability to predict the possible outcomes of
a genetic cross or mating and their expected frequencies.
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To prepare a Punnett square, all possible combinations of the parental
alleles are listed along the top (for one parent) and side (for the other parent) of
a grid, representing their meiotic segregation into haploid gametes. Then the
combinations of egg and sperm are made in the boxes in the table to show which
alleles are combining.
Each box then represents the diploid genotype of a zygote, or fertilized
egg, that could result from this mating. Because each possibility is equally likely,
genotypic ratios can be determined from a Punnett square. If the pattern of
inheritance (dominant or recessive) is known, the phenotypic ratios can be
inferred as well.
For a monohybrid cross of two true-breeding parents, each parent
contributes one type of allele. In this case, only one genotype is possible. All
offspring are Yy and have yellow seeds.
Figure 4. Cross of Two true-breeding parents
Punnett square analysis of a monohybrid cross: In the P generation,
pea plants that are true-breeding for the dominant yellow phenotype are crossed
with plants with the recessive green phenotype. This cross produces F1
heterozygotes with a yellow phenotype. Punnett square analysis can be used to
predict the genotypes of the F2 generation.
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