The Human Genome Project

The Human Genome Project (HGP) is an international
cooperative effort to investigate the
human genome in its entirety. It consists of
different approaches, each directed toward a
different goal. Many countries participate. Five
major centers, four in the United States and
one in the United Kingdom, contribute about
85% of the data.

The Human Genome Project (HGP) and related information online

Information about the Human Genome Project
is best gleaned from the internet. Here, several
websites provide access to detailed information
much beyond the limited space available here.
The opposite page (p. 249) provides information
about the main areas, the HGP itself, genes
and disease, gene maps, networks of databases,
education, and the genomes of other organisms
than man.

(ELSI) of the Human Genome Project

From the outset, the ethical, legal, and social
implications of the human genome project have
been an important consideration. About 3% of
the total funding is directed to the ELSI Research
program. ELSI covers a wide range of issues.
These include confidentiality and fairness in the
use of individual genetic information, prevention
of genetic discrimination, use of genetic
methods in clinical diagnostics, public and professional
education, and other related issues.

Medical implications

The human genome project carries important
implications for the theory and practice of
medicine. Complete knowledge of human
genes will lead to better understanding of disease
processes. This, in turn, will lead to improved
precision of diagnosis, correct assessment
of genetic risk, and the development of
therapy.

Important information

Important information about disease-causing
human genes is derived from studying the
genomes of model organisms such as yeast, C.
elegans, Drosophila, and the mouse. The recently
published sequence of the Drosophila
genome (Adams et al., 2000) revealed that of a
set of 289 human genes involved in causing diseases,
177 (62%) appeared to have an orthologue
in Drosophila

Identification of a Coding DNA Segment

Numerous methods are available to identify a
gene of interest that do not require large segments
of DNA to be sequenced. Some examples
are presented here.

Microdissection of metaphase chromosomes

If the chromosomal location of a gene of interest
is known, this region can be cut out of a
metaphase chromosome bymeans of microdissection
(arrow). As first applied by B. Horsthemke
and co-workers (Lüdecke et al., 1989)
this method has the advantage that all other
chromosomal segments are eliminated. (Photo
from Buiting et al., 1990).