HUMAN GENOME PROJECT

BY: SREE LAKSHMI (MSIWM012)

The Human Genome Project was an international research effort to determine the genetic makeup of humans and to identify the genes that it contains. The Human Genome Project was launched in 1984 but officially launched in October 1990. It is a major international co-operation program, with the ultimate goal of achieving a “nucleotide sequence across nuclear genetics”. The Global Research Group consisted of six different countries namely USA, UK, France, Germany, Japan and China as well as several laboratories, a large number of scientists and experts from various fields.

Objectives of the Human Genome Project:

1. Establish a complete genetic sequence and make it easy to access.

2. Improve sequencing technology by developing new and more efficient methods.

3. Analyze genetic variation in the human genome, such as single nucleotide polymorphisms (SNPs) and other DNA sequence variants.

4. Improving the performance of genomics technology. Includes the creation of additional cDNA sources and detailed genetic analysis technologies; a complete study of non-protein coding sequence activities; and to promote the development of global protein analysis technologies.

5. Learn comparative genomics by completing a sequence of a particular type of model (e.g. mouse etc.) that can enhance our understanding of human genes.

6. Consider the moral, legal and social consequences of a growing knowledge base. It is expected that the conflict between this new and advanced knowledge and existing philosophical ideas could have undesirable consequences, which need to be addressed.

7. Develop bioinformatics and computational biology to transfer advanced training to young scientists and to promote the development of academic fields in genetic research.

 Most important features of HGP:

• The human genome contains the details of 23 chromosomes

• Itcontains more than three billion nucleotides.

• The human genome is estimated to have over 30,000 genes. The average gene has 3000 bases. But gene sizes vary, and the gene dystrophin gene has 2.5 million bases.

• Only about 3% of the genome contains amino acid sequences of polypeptides and the rest is in the trash (DNA duplicated).

• Jobs are known to more than 50% of the genes found.

• Repeated sequences make up the largest part of the human genome. Repeated sequences do not use direct coding but illuminate chromosome formation, dynamics and evolution.

• Chromosome 1 has many genes (2968) and Y chromosome is very small (231).

• Almost all nucleotide bases are exactly the same for all humans. The genome sequence of different populations varies less than 0.2% of base pairs.

• Most of the differences come in the form of variations from one foundation to another. One primary variation which is called single nucleotide polymorphisms (SNPs) is derived from all ~ 1,000 bp of the human genome. About 85% of all differences in human DNA are due to SNPs.

Main Objectives:

• Find the complete sequence of DNA extracted from cells donated by several unknown donors, to determine the sequence of DNA in each chromosome.

• Genetic mapping to simplify genetic linking studies.

• Obtaining all human genes to allow for the continuation of human genetic studies.

• Develop simple and automated DNA sequencing technologies.

Updated objectives:

• Determining the sequence of human DNA

• Identify all the genes in a person’s DNA

• Store this information in archives

• Improving data analysis tools

• Transfer of technology related to the private sector

• Address ethical, legal and social issues (ELSI) that may arise in the project.

Project result:

• Has a base base pair of 3164.7

• Genetics have 3000 bases, but sizes vary widely. The gene known as dystrophin has 2.4 million bases.

• The total number of genes is estimated was 30,000.

• Jobs are known to more than 50% of the genes found

• Less than 2% of genome protein codes.

• Dense men with “urban middle-class genomes” are made up of DNA blocks of G and C.

• In contrast, genetically engineered “deserts” are rich in DNA A and T genes.

Chromosome 1 has many genes (2968), and Y chromosome has very few (231). Scientists have identified about 1.4 million places where single DNA (SNPs) mutations occur in humans, and these findings will help to link disease sequences to chromosomes. Cancer with the help of human maps (SNPs) produced in the Human Genome Project.

Applications:

• Identification of human genes and their functions.

• Understand polygenic disturbances e.g. cancer, high blood pressure, diabetes

• Advances in gene therapy

• Advanced diagnosis

• Development of pharmacogenomics

• Genetic basis for mental disorders

• Understanding the norms of the general public

• Advanced knowledge of genetic modification