Aims: Miller's syndrome and genetic bad disquenia whose probability of suffering is one in 10 000 cases. But having both diseases is most unusual: only one in 10 trillion. In an American marriage. His two sons have both, a very specific case that caught the attention of a team of researchers from the U. Utah and the Institute of Systems Biology, who were recruited to decipher for the first time, the genome of an entire family. and thus clarify the true burden that transmit genetic parents.
Methods: A team of researchers from the U. Utah and the Institute of Systems Biology, who were recruited to decipher for the first time, the genome of an entire family. Decoded the DNA of each member and compared with each other and with the results of the Human Genome Project.
Results: The study showed that the parents carried a copy of the genes responsible for these diseases. They were "off" and therefore not suffering, but when combined in the DNA of their children, triggering its onset.
The investigation also clarified the speed with which genetic mutations are passed from generation to generation. So far, studies in the general population indicated that transferred 75 changes each parent their children, however, this study found that each parent bequeathed only 30 mutations to their offspring. "The mutation rate is less than half of what we thought, "confirms the evolutionary clock.
The investigation also clarified the speed with which genetic mutations are passed from generation to generation. So far, studies in the general population indicated that transferred 75 changes each parent their children, however, this study found that each parent bequeathed only 30 mutations to their offspring. "The mutation rate is less than half of what we thought, "confirms the evolutionary clock.
Conclusions: Although many of these conditions pose no risk for themselves, their accumulation over the years increased the likelihood of degenerative diseases such as cancer. The data could also lead to rethink the speed at which the human species is adapted to its environment: "You would think that the evolutionary clock is slower than we thought"
Soledad Berrios, program director of Human Genetics at the University of Chile said that the contribution of this study is the comparison between the DNA of family members: "Let assess specifically what were the inherited genetic combinations that may not necessarily be the same for other subjects of that family or the general population. "
Soledad Berrios, program director of Human Genetics at the University of Chile said that the contribution of this study is the comparison between the DNA of family members: "Let assess specifically what were the inherited genetic combinations that may not necessarily be the same for other subjects of that family or the general population. "
Keywords: Human Genetics, Decoded, evolutionary.
Abbreviations: DNA, deoxyribonucleic acid
