Genetics:

An Introduction
Chapter 1 p.1
Welcome to the study of genetics, the science of heredity.
• Genetics is concerned primarily with understanding
biological properties that are transmitted from parent to
offspring.

• The subject matter of genetics includes

1. heredity
2. the molecular nature of the genetic material
3. the ways in which genes (which determine the
characteristics of organisms) control life functions
4. the distribution and behavior of genes in populations

! Genetics is central to biology because gene activity

underlies all life processes, from cell structure and function
to reproduction.
Learning Objectives
1. Learning what genes are
2. how genes are mapped and transmitted from generation to
generation
3. how genes are expressed
4. how gene expression is regulated
5. Cancer diseases and their causes

 is the focus of this course

 Classical and Modern Genetics
• Humans recognized long ago that offspring tend to resemble their parents.

• Humans have also performed breeding experiments with animals and

plants for centuries.

• However, the principles of heredity were not understood until the mid-
nineteenth century, when Gregor Mendel analyzed quantitatively the
results of crossing pea plants that varied in easily observable
characteristics.
House where Gregor Mendel was born

• He published his results, but their significance

was not realized in his lifetime.

• Several years after his death, however,

researchers realized that Mendel had
discovered fundamental principles of heredity. Gregor Mendel's research garden at St Thomas' Abbey
 We now consider Mendel’s work to be the
foundation of modern genetics.
• Since the turn of the twentieth century, genetics has been an increasingly
powerful tool for studying biological processes.

• An important approach used by many geneticists is to work with mutants of a cell

or an organism affecting a particular biological process: by characterizing the
differences between the mutants with normal cells or organisms, they develop an
understanding of the process.
• Now the genomics revolution is occurring  That is, the
complete genomic DNA sequences have been
determined for many viruses and organisms, including
humans.
• Of course, it is natural for us to focus on the human
genome.
• For example, eventually we will understand the
structure and function of every gene in the human
genome. Such knowledge will lead to a better
understanding of human genetic diseases and
contribute significantly to their cures.

• The science-fiction scenario of each of us carrying our

DNA genome sequence on a chip will become reality in
the near future.
! However, knowledge about our genomes will raise social
and ethical concerns that must be resolved carefully.
The Subdisciplines of Genetics
Geneticists often divide genetics into four major subdisciplines:

1. Transmission genetics (sometimes called classical genetics) is the

subdiscipline dealing with
 how genes and genetic traits are transmitted from generation to
generation
 and how genes recombine (exchange between chromosomes).
Example: Analyzing the pattern of trait transmission in a human pedigree or
in crosses of experimental organisms is an example of a transmission
genetics study.

2. Molecular genetics is the subdiscipline dealing with

 the molecular structure and function of genes.
Example: Analyzing the molecular events involved in the gene control of cell
division, or the regulation of expression of all the genes in a genome, are
examples of molecular genetics studies. Genomic analysis is part of
molecular genetics.
3. Population genetics is the subdiscipline that studies
heredity in groups of individuals for traits that are
determined by one or only a few genes.
Example: Analyzing the frequency of a disease-causing gene in
the human population is an example of a population genetics
study.

4. Quantitative genetics also considers the heredity of

traits in groups of individuals, but the traits of concern
are determined by many genes simultaneously.
Example: Analyzing the fruit weight and crop yield in
agricultural plants are examples of quantitative genetics
studies.
Although these subdisciplines help us think about genes from different
perspectives, there are no sharp boundaries between them.

Historically,

Transmission Population Quantitative Molecular

Genetics Genetics Genetics Genetics
Basic and Applied Research
Genetics research, and scientific research in general, may be either basic or
applied.
1. In basic research, experiments are done to gain an understanding of
fundamental phenomena
For example, we know how the expression of many prokaryotic and eukaryotic
genes is regulated as a result of basic research on model organisms such as the
bacterium Escherichia coli and the fruit fly Drosophila melanogaster

 The knowledge obtained from basic research is used largely to fuel more basic
research.
2. In applied research, experiments are done with different goals in mind;
namely, with an eye toward overcoming specific problems in society or
exploiting discoveries.

For example, In agriculture, applied genetics has contributed significantly to

improvements in animals bred for food (such as reducing the amount of fat in beef
and pork) and in crop plants (such as increasing the amount of protein in
soybeans).
• There is no sharp dividing line between basic and applied research.

• Indeed, in both areas, researchers use similar techniques.

• For example, recombinant DNA technology—procedures that allow
molecular biologists to splice a DNA fragment from one organism into
DNA from another organism and to clone (make many identical copies
of ) the new recombinant DNA molecule—has profoundly affected
both basic and applied research
Examples
• In the area of plant breeding, recombinant DNA
technology has made it easier to introduce traits
such as disease resistance from noncultivated
species into cultivated species.

• In animal breeding, recombinant DNA technology is

being used in the beef, dairy, and poultry
industries, for example, to increase the amount of
lean meat, the amount of milk, and the number of
eggs.

• In medicine, the results are equally impressive.

Recombinant DNA technology is being used to
produce a number of antibiotics, hormones, and
other medically important agents such as clotting
factor and human insulin and to diagnose and treat
a number of human genetic diseases.
Genetic Databases and Maps
In this section, we talk about two important resources for
genetic research: genetic databases and genetic maps.

Genetic Databases.
we can consider a set of important and extremely useful
genetic databases at the National Center for Biotechnology
Information (NCBI) website (http://www.ncbi.nlm.nih.gov).
NCBI was created in 1988 as a national resource for molecular
biology information. Its role is to “create public databases,
conduct research in computational biology, develop software
tools for analyzing genome data, and disseminate biomedical
information—all for the better understanding of molecular
processes affecting human health and disease.”
Some of the search tools available at the NCBI site
are as follows:
• PubMed is used to access literature citations and abstracts and
provides links to sites with electronic versions of research journal
articles.

These articles can sometimes be viewed, or you must pay a one-time

fee or obtain a free subscription. You search PubMed by entering
terms, author names, or journal titles.
! It is highly recommended that you use PubMed to find research
articles on genetic topics that interest you.
• OMIM (Online Mendelian Inheritance in Man) is a database of human
genes and genetic disorders

• GenBank: This database is an annotated collection of all the tens of

billions of publicly available DNA sequences.
• BLAST (Basic Local Alignment Search Tool) is a tool used to compare a nucleotide
sequence or protein sequence with all sequences in the database to find possible
matches.

For example, this is useful, if you have sequenced a new gene and want to find out
whether anything similar has been sequenced previously.
• Moreover, genes with related functions may be listed in the databases, allowing
you to focus your research on the function of the gene you are studying.

Query A list of “segment

sequence BLAST
pairs” between the
query and database
sequences
database
• Entrez is a system for searching several linked databases.

• Books is a collection of biomedical books that can be searched

directly. Included are some genetics, molecular biology, and
developmental biology textbooks.
Genetic Maps
Since 1902, much effort has been made to
construct genetic maps for the commonly
used experimental organisms in genetics.
Road Map

Like road maps that show the relative

locations of towns along a road, genetic
maps show the arrangements of genes
along the chromosomes and the genetic
distances between the genes.

The position of a gene on the map is called

a locus or gene locus.
The genetic distances between genes on the same
chromosome are calculated from the results of genetic
crosses by counting the frequency of recombination—
that is, the percentage of the time among the progeny
that the genes in the two original parents exchange
(recombine)
The unit of genetic distance is the map unit (mu).

The goal of constructing genetic maps has been to

obtain an understanding of the organization of genes
along the chromosomes (e.g., to inform us whether
genes with related functions are on the same
chromosome; and if they are, whether they are close to
each other).
 Organisms for Genetics Research
The principles of heredity were first established in the nineteenth century by
Gregor Mendel’s experiments with the garden pea.
Since Mendel’s time, many organisms have been used in genetic experiments. Elephant Nematode (C.elegans)
In general, the goal of the research has been to understand gene structure and
function. Because of the remarkable conservation of gene function throughout
evolution, scientists have realized that results obtained from studies with a
particular organism typically would apply more generally.

Among the qualities that historically have made an organism a particularly

good model for genetic experimentation are the following:
1. The organism has a short life cycle, so that a large number of generations
occur within a short time. In this way, researchers can obtain data readily over
many generations. Fruit flies, for example, produce offspring in 10 to 14 days.
2. A mating produces a large number of offspring.
3. The organism should be easy to handle. For example, hundreds of fruit flies
can be kept easily in small bottles.
4. Most importantly, genetic variation must exist between the individuals in the
population or be created in the population by inducing mutations so that the
inheritance of traits can be studied.
Both eukaryotes and prokaryotes are used in genetics research.