Examples of using Point mutations in English and their translations into Vietnamese
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Mostly point mutations.
There are also Missense and Nonsense mutations, which are variations of point mutations.
The most important mechanism is the development of point mutations in fusA, the chromosomal gene that codes for EF-G.
They have stated that about two-thirds of known humangenetic variants associated with disease are point mutations.
Several point mutations have been identified in the fibrillin gene, most of which affect cysteine residues within the microfibril.
Gonadotropin-releasing hormone receptor function hasbeen shown to be deleteriously effected by point mutations in its gene.
But I saw the lack of a way to fix point mutations, which cause most human genetic diseases, as a major problem standing in the way.
In any day, the cells in your body will collectively accumulate billions of these single-letter swaps,which are also called"point mutations.".
Millions suffer from sicklecell anemia because they have a single A to T point mutations in both copies of their hemoglobin gene.
Each had more than 1,000 point mutations(mutations that alter a single letter of the genetic code), and only a few mutations appeared in more than one cell.
Throughout the history of medicine,we have not had a way to efficiently correct point mutations in living systems, to change that disease-causing T back into a C.
Grievous genetic diseases caused by point mutations are especially frustrating, because we often know the exact single-letter change that causes the disease and, in theory, could cure the disease.
While base editors are too new to have already entered human clinical trials, scientists have succeeded in achieving a critical milestone towards that goal byusing base editors in animals to correct point mutations that cause human genetic diseases.
But correcting the largest fraction of disease-causing point mutations would require developing a second class of base editor, one that could convert As into Gs or Ts into Cs.
In individuals affected by SMA, the SMN1 gene is mutated in such a way that it is unable to correctly code the SMN protein-due to either a deletion occurring at exon 7 or to other point mutations(frequently resulting in the functional conversion of the SMN1 sequence into SMN2).
But many human genetic diseases are caused by single point mutations that need to be precisely corrected, rather than disrupted, in order to treat or study the corresponding disease.
But for most point mutations that cause genetic diseases, simply cutting the already-mutated gene won't benefit patients, because the function of the mutated gene needs to be restored, not further disrupted.
Pyott from the University of Edinburgh in the UK usedCRISPR/Cas9 technology to introduce sequence-specific deleterious point mutations at the eIF(iso)4E locus in Arabidopsis thaliana to successfully engineer a complete resistance to Turnip mosaic virus(TuMV), a major pathogen in vegetable crops.
Among the more than 35,000 known disease-associated point mutations, the two kinds of mutations that this first base editor can reverse collectively account for about 14 percent or 5,000 or so pathogenic point mutations.
All thanks to a rare genetic point mutation which has spanned at least three generations.
This can lead to a point mutation if not repaired by the DNA repair enzymes.
In beta-thalassemia, the disease is caused by a mistake in a single base in the genetic code-known as a point mutation.
In cystic fibrosis, a point mutation in the Cystic Fibrosis Transmembrane Conductance Regulator protein, ΔF508-CFTR, causes it to be unstable and misfold, hence trapped in the endoplasmic reticulum and unable to reach the cell membrane.
But every now and then, a point mutation disrupts an important capability in a cell or causes a cell to misbehave in harmful ways.
To find the point mutation for beta-thalassemia, scientists scanned the three billion“letters” of the human genetic code to find the problem.
A first step in the development of a tumor cell is usually a small change in the DNA,often a point mutation, which leads, among other things, to a genetic instability of the cell.
Some techniques involve creating a library of genes, each of which has a point mutation at a different position in the area of interest, sometimes even every position in the whole gene: this is called"scanning mutagenesis".
Each human DNA molecule contains some three billion genetic letters- and, incredibly, the error rate of the cell, after all the molecular editing machines do their job,is only one copying mistake(called a point mutation) for every 10 billion letters!
Base editors have also been used in animals to reverse the consequence of tyrosinemia, beta thalassemia, muscular dystrophy, phenylketonuria, a congenital deafness and a type of cardiovascular disease-- in each case,by directly correcting a point mutation that causes or contributes to the disease.