Its goal is to completely map and sequence all of the genetic material that makes us humanWhen it is done, we will have a new and profoundly powerful tool to help us to unravel the mysteries of how the human body grows and functions.The cells in our bodie

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Its goal is to completely map and sequence all of the genetic material that makes us human

When it is done, we will have a new and profoundly powerful tool to help us to unravel the mysteries of how the human body grows and functions.

The cells in our bodies each contain a master program which controls how and when they develop and how they should function. This information is organised in units called genes, which are arrayed, one after the other along long polymers called chromosomes. We have 46 chromosomes, arranged in pairs kept in the nucleus of most cells. The chromosomes are made of deoxyribonucleic acid, or DNA

It is comprised of just four building blocks, or residues, strung together in enormously long strings. The residues combine to make our genes, and our genes string together to make our chromosomes.

A genetic linkage map shows the relative locations of specific DNA markers along the chromosome. Any inherited physical or molecular characteristic that differs among individuals and is easily detectable in the laboratory is a potential genetic marker. Markers can be expressed DNA regions (genes) or DNA segments that have no known coding function but whose inheritance pattern can be followed. DNA sequence differences are especially useful markers because they are plentiful and easy to characterize precisely. Cells have a second type of nucleic acid - RNA (Ribonucleic Acid) which can also carry genetic information

The messenger RNA (mRNA) carries genetic information from the DNA to the ribosomes

where it is translated into a protein. mRNA is synthesized in the nucleus based on a single DNA strand, using the RNA polymerase enzyme. mRNA is transcribed from a DNA strand only in locations called open reading frames

In eukaryotes, the mRNA is formed of coding and non-coding regions. Coding regions are the regions used to carry real genetic information. Non coding regions do not carry such information (see below).

The coding regions are called exons, since they are able to leave the nucleus and reach the Ribosome. The non-coding regions are called introns and never leave the nucleus.

Physical maps describe the chemical characteristics of the DNA molecule itself.

chromosomal mapping can be used to locate genetic markers defined by traits observable only in whole organisms. Because chromosomal maps are based on estimates of physical distance, they are considered to be physical maps. The number of base pairs within a band can only be estimated.

New genes can be located by combining genetic and physical map information for a region. The genetic map basically describes gene order. Rough information about gene location is sometimes available also, but these data must be used with caution because recombination is not equally likely at all places on the chromosome. Thus the genetic map, compared to the physical map, stretches in some places and compresses in others, as though it were drawn on a rubber band.

Technological improvements now make possible the cloning of large DNA pieces, using artificially constructed chromosome vectors that carry human DNA fragments as large as 1 Mb. These vectors are maintained in yeast cells as artificial chromosomes (YACs). Yeast Artificial Chromosomes (YACs), or pieces of human DNA carried in yeast, in order to complete the map. The investigators compared 16 of these YACs and used the common, overlapping regions to determine the correct order of the DNA and to locate a series of markers along the chromosome.

YAC methodology drastically reduces the number of clones to be ordered; many YACs span entire human genes. A more detailed map of a large YAC insert can be produced by subcloning, a process in which fragments of the original insert are cloned into smaller- insert vectors. Because some YAC regions are unstable, large- capacity bacterial vectors (i.e., those that can accommodate large inserts) are also being developed.

Bacterial Artificial Chromosomes (BACs) are the most broadly used DNA clone resource for large genome sequencing programs. Sequence reads at the ends of cloned DNAs mark the boundaries of DNA contained within, and are called sequence tag connectors (STCs

The BACs representing a genome can together serve as a scaffold on which much shorter DNA sequence assemblies can be located.

The physical maps of the Y chromosome that weve made should make it much easier to explore the biology of the chromosome that to this time has been one of the most mysterious, said Page. The Y chromosome is particularly mysterious because it is difficult to investigate through family inheritance studies, he said. I think the biology of the Y chromosome can only be explored from the DNA level up.

scientists has found that a specific defect in the male sex chromosome (the Y chromosome) may be responsible for 1 percent of cases of azoospermia, the complete inability to make sperm and the most severe form of male infertility. The study is one of the first to demonstrate that genetic defects can sometimes explain infertility in otherwise healthy couples and could lead to a better understanding of the molecular mechanisms required to make healthy sperm

Fairness in the use of genetic information by insurers, employers, courts, schools, adoption agencies, and the military, among others.

Who should have access to personal genetic information, and how will it be used?

Psychological impact and stigmatization due to an individuals genetic differences.

How does personal genetic information affect an individual and societys perceptions of that individual?

How does genomic information affect members of minority communities

Reproductive issues including adequate informed consent for complex and potentially controversial procedures, use of genetic information in reproductive decision making, and reproductive rights.

Do healthcare personnel properly counsel parents about the risks and limitations of genetic technology?

How reliable and useful is fetal genetic testing?

What are the larger societal issues raised by new reproductive technologies?

Clinical issues including the education of doctors and other health service providers, patients, and the general public in genetic capabilities, scientific limitations, and social risks; and implementation of standards and quality-control measures in testing procedures.

How will genetic tests be evaluated and regulated for accuracy, reliability, and utility? (Currently, there is little regulation at the federal level.)

How do we prepare healthcare professionals for the new genetics?

How do we prepare the public to make informed choices?

How do we as a society balance current scientific limitations and social risk with long-term benefits?

The difference between somatic and germ line gene therapy is transmission (or not) of the transgene to future generations. Somatic cells are all the cells in your body other than those directly involved in reproduction. In the female these are the eggs and in the male it is the sperm and those cells that give rise to sperm (these cells are generically termed gametes). Thus, somatic gene therapy will only effect the individual who receives the treatment since none of the reproductive cells will receive the transgene.

In contrast, gene therapy targeted to the germ cells will result in gametes (eggs or sperm) with the transgene. If the gene therapy patient then has children, the children will also have the transgene.

Most scientists and the public have accepted the idea of somatic gene therapy, it is thought of like any other experimental treatment. There is an ethical and a practical concern that if gene therapy targeted to germ cells is successful then people will try to custom-design their children with enhancing genes that may not be in the best interest for the health or welfare of their children. Abuse of the gene therapy technology targeted to the germ cells is particularly troubling when you realize that modifications to the germ line are permanent, effecting all the future generations

The main area of disagreement is whether human genes themselves can be regarded as inventions or products. The pharmaceutical industry is arguing that they are inventions and that without additional legal protection for gene-based medicines, companies would have no way of getting an adequate return on their investment in DNA research. However, this implies that at present products which use, or are based on, human genes are not protected. This is simply not true as the four main types of medicinal products in this area, small molecule drugs, protein therapeutics, gene therapies and genetic screening tests, are already well-covered by the patent system.

To investigate the variation occurring in the human genome by studying samples collected from populations that are representative of all of the worlds peoples, and

Ultimately, to create a resource for the benefit of all humanity and for the scientific community worldwide. The resource will exist as a collection of biological samples that represents the genetic variation in human populations worldwide and also as an open, long-term, genetic and statistical database on variation in the human species that will accumulate as the biological samples are studied by scientists from around the world.

The Human Genome Diversity Project (HGDP) is working to gather DNA samples from 7 distinct indigenous peoples all over the globe.(1) The presumption is that, if these peoples die out under imperialist oppression, the human race will be no less diverse for the wear.

proposes to collect and catalogue genetic samples from indigenous nations classified as endangered and facing extinction. HGDP will make the samples available to researchers with the goals of discovering these nations histories of migration and evolution and the degree of variance in human genes, and identifying genetic susceptibility to disease

The position of indigenous peoples vis a vis biotechnology is still evolving. The common thread in the various positions is the view that life-forms should not be patented. If the ownership of patents on life-forms is the main incentive for scientists and corporations to invest in biotechnology, it might be a good idea not to allow this. The benevolent motives avowed by scientists who want to contribute to sustainable development should not be tainted by the commercialization or commodification of life.

It should be recognized that indigenous peoples have a right to their intellectual and cultural heritage; This right is being blatantly violated by developments in biotechnology

HUMAN GENOME PROJECT GOALSResolution

ɨ Complete a detailed human genetic map Mb

ɨ Complete a physical map 0.1 Mb

ɨ Acquire the genome as clones 5 kb

ɨ Determine the complete sequence 1 bp

ɨ Find all the genes

With the data generated by the project, investigators will determine the functions of the genes and develop tools for biological and medical applications.

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