Human Genome Project

Genome:

An entire arrangement of the DNA with every one of the qualities of life forms is called as genome. The genome has all data required for the upkeep of creature. In people a duplicate of whole genome (more than 3 billion DNA base combine) is encased in cells. The human genome comprises of an expected 100,000 qualities; these are situated on 23 sets of chromosomes, one set from each parent, comprising of one sex chromosome match, and 22 autosomal chromosome sets.

Human Genome Project:

So as to decide the grouping of genome and distinguish the qualities that it contain a worldwide research exertion was resolved that is called as human genome venture. Additionally comprehension of the structure and association of qualities will take into account an efficient investigation of their typical capacity and control in a living being

Why has it been important?

The work of the Human Genome Project has enabled researchers to understand the blueprint for building a person. As researchers learn more about the functions of genes and proteins, this knowledge will have a major impact in the fields of medicine, biotechnology, and the life sciences.

History of human genome project:

In 1988, a committee organized by the National Institutes of Health and the Department of Energy developed an action plan for the Human Genome Project. In 1990, a five-year joint research proposal was submitted to Congress, and in October 1990, the Human Genome Project officially began. The project has been organized and supported primarily by the DOE and the NIH, which established working groups to address genome mapping, computational analysis to handle databases, and the social, legal, and ethical implications of the human genome research.

In 1988, the Human Genome Organization (HUGO) was established, which facilitates the international scientific effort. The actual overlay of the Human Genome Project is enormous. Mapping and sequencing was initially projected to take 15 years, and be completed in 2005 at an estimated cost of three billion dollars. However, recent reports state that progress has been more rapid than previously expected. After mapping and sequencing are complete, many years will be needed to completely identify all the genes and determine the format of gene expression.

Goals of human genome project:

The primary goal of the Human Genome Project is to generate detailed maps of the human genome. These maps will aid in determining the location of genes within the human genome; more specifically, it will assign genes to their chromosomes. There are two types of maps that are being developed, genetic linkage maps and physical maps.

Genetic linkage maps determine the relative arrangement and approximate distances between genes and markers on the chromosomes, Physical maps specify the physical location and distance between genes or DNA fragments.

After mapping is complete, the DNA must be sequenced to determine the order of all the nucleotide bases of the chromosomes, and the genes in the DNA sequence must be identified. In all aspects of the project, a major focus has been developing instrumentation to increase the speed of data collection and analysis.

Strategies utilized as a part of human genome project:

There are a wide range of procedures that have been attempted in sequencing and mapping the genome. Some have reduced being used because of time and precision concerns. Once a guide has been resolved this data can be utilized to find the gene(s) causing the illness and afterward settle it.

Yeast Artificial Chromosome:

This is done by cloning large pieces of DNA in yeast. The overlapping segments are used to piece together the DNA. YAC technology has lead to the mapping of chromosomes 3, 11, 12, 21, 22, and Y.

RFLP technology:

RFLP technology, which locates variations, was one of the first used in mapping. In fact, it showed that mapping was possible. This technique was both expensive and slow. Replacing this technique is the polymerase chain reaction - PCR. PCR rapidly clones the existing DNA, so a larger amount of DNA is obtained. This now large amount of DNA can be sequenced with the aid of a primer.

Positional cloning:

Positional cloning allows for characterization of a gene once its approximate location is known. This technique aided in identifying genes for breast cancer, diabetes, and Alzheimer's disease.

Expressed sequence tags (ESTs):

Another method involves ESTs - expressed sequence tags - which are single stranded DNA. These DNA segments act as lures to identify a gene's sequence. However, this procedure cannot identify every gene and ignores many others.

Shotgun sequencing method:

The shotgun method has been used for smaller genomes and may be applied to the human genome. This involves breaking the DNA into thousands of pieces. These fragments are sequenced and overlapping segments are matched to reveal the genome.

Microsatellites:

Microsatellites are commonly used in mapping. Microsatellites are areas of repetitive DNA. The advantages of microsatellites include abundancy, variation and ability to be analyzed by PCR

Genetic mapping:

It locates the pairs of genes on the chromosomes. Using genetic mapping, you can determine the genetic code that allows our bodies to develop.

Linkage:

It allows us to determine the regions of chromosomes that are likely to contain a risk gene. Linkage helps locate the distance between disease causing genes

Ethical legal and social implications of human genome project:

Human genome project provides valuable information to increase our understanding about genome but it also have certain limitations. The Ethical, Legal, and Social Implications (ELSI) program was founded in 1990 as an integral part of the Human Genome Project. The mission of the ELSI program was to identify and address issues raised by genomic research that would affect individuals, families, and society. A percentage of the Human Genome Project budget at the National Institutes of Health and the U.S. Department of Energy was devoted to ELSI research.

The ELSI program focused on the possible consequences of genomic research in four main areas:

Privacy and fairness in the use of genetic information, including the potential for genetic discrimination in employment and insurance. The integration of new genetic technologies, such as genetic testing, into the practice of clinical medicine. Ethical issues surrounding the design and conduct of genetic research with people, including the process of informed consent. The education of healthcare professionals, policy makers, students, and the public about genetics and the complex issues that result from genomic research What did the Human Genome Project accomplish? In April 2003, researchers announced that the Human Genome Project had completed a high-quality sequence of essentially the entire human genome. This sequence closed the gaps from a working draft of the genome, which was published in 2001. It also identified the locations of many human genes and provided information about their structure and organization. The Project made the sequence of the human genome and tools to analyze the data freely available via the Internet. In addition to the human genome, the Human Genome Project sequenced the genomes of several other organisms, including brewers' yeast, the roundworm, and the fruit fly. In 2002, researchers announced that they had also completed a working draft of the mouse genome. By studying the similarities and differences between human genes and those of other organisms, researchers can discover the functions of particular genes and identify which genes are critical for life. Pros and cons of human genome project:

Advantages

Foresee and avoid diseases:

By knowing which genes predispose people to particular conditions, doctors will be able to predict which people are likely to suffer from a particular disease and offer a preventive course of action, which may involve medical treatment or lifestyle changes. Furthermore, cures could be found for genetic diseases like cystic fibrosis or sickle cell anemia.

Improved medicine:

Personalized medicines can be developed based on the way our individual bodies react to the disease and the treatments, which will be more effective because the medicines will be tailored for our specific medical needs.

Accurate diagnoses:

Doctors can develop more accurate diagnostic techniques for certain conditions which are difficult to diagnose at an early stage.

Improve forensic science:

Genetic fingerprinting helps to match a suspect to the biological material found at a crime scene. In the future it could be possible to figure out what a suspect looks like from DNA found at a crime scene e.g. their eye, hair and skin color.

Disadvantages

Increased stress:

People could be diagnosed with illnesses that they are susceptible to develop in the future and spend their life worrying about it even before they get it.

Geneism:

People with genetic problems could be under pressure not to have children as a threat of passing on their faulty genes onto the next generation.

Discrimination by employers and insurers:

Life insurance could be impossible to get and more expensive if you have any genetic likelihood of serious disease. Furthermore, employers may discriminate against people who are genetically likely to get a disease and be favorable to those who are healthy

Outcomes of human genome project:

The major outcomes of human genome project are as follows: Genetically proven to have the ability to locate genes that are responsible for locating diseases. Gene Therapy used today. The HGP has been very successful.

Conclusion

At this point the set of books with only four letters is being written and is ahead of schedule due to advancing equipment and techniques. Their goals are being met by using YAC technology, ESTs and microsatellites among others. If government wins the race everyone will have access to this invaluable information. If private industry wins these books may have a price tag too big for the common man. Ethical issues are being rised about what should be done with this information when it is discovered. Groups such as ELSI are working hard to keep this at a minimum. Overall, the human genome project can be a success. It will be a tool to possibly tell us our future and maybe more importantly our past.