Johann Gregor Mendel (1822-1884

Father of Genetics
Gregor Mendel, through his work on pea plants,
discovered the fundamental laws of inheritance. He deduced
that genes come in pairs and are inherited as distinct units, one
from each parent. Mendel tracked the segregation of parental
genes and their appearance in the offspring as dominant or
recessive traits. He recognized the mathematical patterns of
inheritance from one generation to the next. Mendel's Laws of
Heredity are usually stated as:
1) The Law of Segregation: Each inherited trait is defined by a
gene pair. Parental genes are randomly separated to the sex
cells so that sex cells contain only one gene of the pair.
Offspring therefore inherit one genetic allele from each parent
when sex cells unite in fertilization.
2) The Law of Independent Assortment: Genes for different
traits are sorted separately from one another so that the
inheritance of one trait is not dependent on the inheritance of
3) The Law of Dominance: An organism with alternate forms of
a gene will express the form that is dominant.
The genetic experiments Mendel did with pea plants took him
eight years (1856-1863) and he published his results in 1865.
During this time, Mendel grew over 10,000 pea plants, keeping
track of progeny number and type. Mendel's work and his Laws
of Inheritance were not appreciated in his time. It wasn't until
1900, after the rediscovery of his Laws, that his experimental
results were understood.

Classical Genetics
Classical genetics is based on cell division involving
chromosomes, which consist of units of inheritance called
genes. Somatic cells containing 46 chromosomes (22 pairs of
automosomes and two sex chromosomes, either XX or YY)
divide by mitosis. Mitosis in a single somatic cell produces two
daughter cells each with the diploid number of chromosomes
(46). Meiosis occurs only in germ cells and produces two
gametes each with the haploid number of chromosomes (23).
The genes on the chromosomes obey mendelian laws as
1. Inheritance is based on "factors" (genes) that are
transmitted to offspring as discrete units. For each trait a
person has two factors (alleles), one from each parent.
2. The two alleles always segregate and pass to different
3. Factors for different traits assort to gametes
independently, i.e., maternal and paternal genes
randomly recombine in the gametes.
Over the years several refinements have been made to
Mendel's laws. Because closely linked genes on the same
chromosome do not assort independently, they are always
inherited together. In contrast, genes whose loci are far apart on
a chromosome may experience crossing over in which a new
combination of genes (recombinant) is present in an offspring.
Also, nondisjunction may occur (a rare event) when two
chromosomes fail to separate during meiosis so that both pass
to one daughter cell.
Terms to look up

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 allele  crossing over  diploid number of chromosomes  gamete  haploid number of chromosomes  linked  locus  meiosis  mitosis  nondisjunction  syntenic Abortion or stillbirth (sex unspecified) Parents and Children: 1 boy. 1 girl (in order of birth) Dizygotic Twins Monozygoti c Twins Chart 1-1. Symbols commonly used in pedigree charts. Male Heterozygotes for autosomal recessive Female Carrier of linked recessive Mating 2 | Page Death X- Proposita Propositus Method of identifying persons in a pedigree Here the propositus is Child 2 in Generation II Sex unspecified Consanguineo us marriage Number of children of sex indicated Divorced Affected individuals Multiple marriages .

given the genotypes of their parents. Setting up and using a Punnett square is quite simple once you understand how it works. you put the genotype of one parent across the top and that of the other parent down the left side. For example. You begin by drawing a grid of perpendicular lines: Note that only one letter goes in each box for the parents. It does not matter which parent is on the side or the top of the Punnett square. This can help plant and animal breeders in developing varieties that have more desirable qualities. In this example. if parent pea plant genotypes were YY and GG respectively. It can also help people explain and predict patterns of inheritance in family lines. all you have to do is fill in the boxes by copying the row and column-head letters across or down into the empty squares. the setup would be: Probability of Inheritance The value of studying genetics is in understanding how we can predict the likelihood of inheriting particular traits. This is a simple graphical way of discovering all of the potential combinations of genotypes that can occur in children. 100% of the offspring will likely be heterozygous (YG). His technique employs what we now call a Punnett square. Next. This gives us the predicted frequency of all of the potential genotypes among the offspring each time reproduction occurs. It also shows us the odds of each of the offspring genotypes occurring.Adopted Extramarital union Next. Since the Y (yellow) allele is dominant 3 | Page . One of the easiest ways to calculate the mathematical probability of inheriting a specific trait was invented by an early 20th century English geneticist named Reginald Punnett .

This is the "internally coded. but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA). Most DNA is located in the cell nucleus (where it is called nuclear DNA). called autosomes. Phenotype . look the same in both males and females. each cell normally contains 23 pairs of chromosomes. the DNA that makes up chromosomes becomes more tightly packed during cell division and is then visible under a microscope. Genotype . physical appearance of a particular trait Chromosomes are not visible in the cell’s nucleus—not even under a microscope—when the cell is not dividing. Nearly every cell in a person’s body has the same DNA. as Mendel observed in his breeding experiments. the phenotype that disappears in the F1 generation from the cross of two pure lines and reappears in the F2 generation What is DNA? DNA. it is the outward. for a total of 46. 100% of the YG offspring will have a yellow allele whose expression is suppressed in the presence of a dominant allele. inheritable information" carried by all living organisms. However. Twenty-two of these pairs. What is a chromosome? In the nucleus of each cell. . or deoxyribonucleic acid. Dominant .over the G (green) allele for pea plants.literally means "the form that is shown". is the hereditary material in humans and almost all other organisms. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure.the allele that expresses itself at the expense of an alternate allele. the DNA molecule is packaged into thread-like structures called chromosomes. the phenotype that is expressed in the F1 generation from the cross of two pure lines Recessive . Most of what researchers know about chromosomes was learned by observing chromosomes during cell division. 4 | Page How many chromosomes do people have? In humans.

is another kind of aneuploidy. or in any cell after birth. People with Down syndrome typically have three copies of chromosome 21 in each cell. for a total of 47 chromosomes per cell. “Mono-” is Greek for “one”. Cells with one additional set of chromosomes. “Tri-” is Greek for “three”. X and Y. for a total of 92 chromosomes. These changes can occur during the formation of reproductive 5 | Page Monosomy. cells (eggs and sperm). for a total of 69 chromosomes. for a total of 45 chromosomes per cell. people with trisomy have three copies of a particular chromosome in cells instead of the normal two copies. are called tetraploid. some cells end up with complete extra sets of chromosomes. the sex chromosomes. and function of the body’s systems. Rarely. differ between males and females. Down syndrome is an example of a condition caused by trisomy (illustration). or the presence of an extra chromosome in cells. or the loss of one chromosome in cells. people with monosomy have one copy of a particular chromosome in cells instead of the normal two copies. Cells with two additional sets of chromosomes. Can changes in the number of chromosomes affect health and development? Human cells normally contain 23 pairs of chromosomes. A common form of aneuploidy is trisomy. are called triploid (illustration). A gain or loss of chromosomes from the normal 46 is called aneuploidy. this situation is called chromosomal mosaicism (illustration). Women with Turner syndrome usually have only one copy of the X chromosome in every cell. in early fetal development. development. a change in the number of chromosomes occurs only in certain cells. are the sex chromosomes. Turner syndrome is a condition caused by monosomy (illustration). . for a total of 46 chromosomes in each cell (illustration). A change in the number of chromosomes can cause problems with growth. The 22 autosomes are numbered by size. while males have one X and one Y chromosome. When an individual has two or more cell populations with a different chromosomal makeup. The other two chromosomes. This picture of the human chromosomes lined up in pairs is called a karyotype. In some cases. A condition in which every cell in the body has an extra set of chromosomes is not compatible with life. Females have two copies of the X chromosome.The 23rd pair.

they occur in somatic cells (cells other than eggs or sperm) during the formation or progression of a cancerous tumor. some cells end up with one extra or missing chromosome (for a total of 45 or 47 chromosomes per cell). . while other cells have the usual number of chromosomes. These changes are not inherited. while other cells have the usual 46 chromosomes. some cells have 45 chromosomes because they are missing one copy 6 | Page of the X chromosome. Many cancer cells also have changes in their number of chromosomes. In females with this condition.Chromosomal mosaicism occurs from an error in cell division in cells other than eggs and sperm. Mosaic Turner syndrome is one example of chromosomal mosaicism. Most commonly.