Scientists presented the results of the project “1000 Human Genome Project to study the genetic variation in humans. At this stage, the researchers say they have identified 95 percent of all single-nucleotide polymorphisms (single nucleotide polymorphism – SNP), occurring in the genomes of humans. These mutations, in particular, are important for the diagnosis of various diseases. The work of scientists published in the journal Nature. Briefly about it wrote Science News.
During the project, “1000 Human Genome Project, scientists intend to determine the DNA sequence of 2,500 people (which was originally scheduled to handle the DNA of only one thousand people, which is reflected in its name) and compare them with each other. The information obtained will help researchers in studying genetic diseases, and in addition, with the help of specialists will be able to refine their ideas about what happened to the human population at different stages of its evolution.
SNP (in Russian they are sometimes called SNIP) – a mutation affecting only one nucleotide – elementary “brick”, which is composed of a DNA sequence. Snip is very often associated with certain characteristic features (ie, one variant is associated with one type of manifestation of the trait and the other – with the other), so they are useful for diagnosis and comparison of sequences to each other. Learn more about SNiP and how scientists use them, can be read here.
During its deliberations, the researchers found eight million previously unknown SNIP, as well as identified SNP, occurring in less than five percent of the people. On average, each person in the genome contains approximately three million SNIP.
In addition to the study, researchers looked at SNP and diversity in the distribution of genes. It turned out that about a thousand genes in most people there are not one, but two or more copies, and for 44 families of genes such “multiple” was previously unknown.
At the moment, the project participants have deciphered the DNA sequence polnogenomnuyu 179 people, and also examined the sequence coding for 906 genes still have 697 people. In addition, researchers have analyzed in detail the DNA of six people from two families – the African and European living in the moment in the U.S..
The project “1000 Human Genome Project was launched in 2008 and should last three years. Its cost will be around 30-50 million dollars. For comparison, the implementation of the Human Genome Project “on the receipt of the first polnogenomnoy sequence was spent not less than three billion dollars.