Find the cause of serious diseases

Scientists of human gene mapping have discovered in human bodies about 20 genes and completely activated, opening new research directions on human genome.

Scientists of human gene mapping have discovered in human bodies about 20 genes and completely activated, opening new research directions on human genome.

The team of the Sanger Research Institute (UK) is developing a new category called 'functional loss' (LoF), to help identify new disease mutations and help scientists. better capture the normal function of human genes.

Specifically, the team developed a series of filters to identify errors in the human genome that sequenced the entire genetic code. To understand the structure of the genome, researchers used nearly 3,000 LoF genes of the genome of 185 people from Europe, East Asia and West Africa.

Picture 1 of Find the cause of serious diseases

Researchers found nearly 3,000 LoF mutants in the genome of 185 people.

The loss of functional change is the predicted gene mutation and the disruption of gene function. This is the cause of serious human diseases such as muscular dystrophy and arteriosclerosis.

In this study, the filter revealed that 56% of the 3,000 people analyzed by the LoF gene showed no significant impact on gene function.

However, the exact LoF variants were found in over 100 Europeans with typical genomes and 20 who affected gene copies, meaning they seemed to lose gene function.

'This means that at least 1% of human genes can stop working without serious illness' , GS. Mark Gerstein, Yale University (USA) studied this work.

Update 14 December 2018
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