Sentences with phrase «base pair mutations»

They could see the results of recombination as well as other types of mutation, such as single base pair mutations.

In these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to function.

Not exact matches

Mutations are estimated to occur at a rate of 1 mutation in every billion base pairs.

The team found that a mutation in a single pair of nucleotides in the gene causes seed coat permeability — that is, a change in one pair out of the approximately 1 billion base pairs that make up the soybean genome.

Isolating an unknown mutation can involve sequencing and analyzing a patient's entire genome, containing 6 billion base pairs (DNA letters).

Often, these regions are large, covering millions of base - pairs and do not shed light on the specific mutations that are responding to the selection pressure.

But in genes, differences as small as a point mutation — the alteration of a single base pair — can lead to disease.

They found a point mutation in the gene (a single altered base pair) in one of 91 randomly selected short individuals, and no such mutations in 300 people of average height — suggesting that about 1 % of all short people may carry a SHOX mutation.

Mutations that change C - G base pairs to T - A pairs happen 100 to 500 times every day in human cells.

Such mutations among the genome's three billion base pairs don't tell the whole story, however.

Most of the afflicted family members, but none of those who sleep normally, carry a single base - pair mutation in a gene called hPer2, the researchers report 12 January in a paper published online in Science.

To identify segments across the intronic and exonic regions of the BRCA1 or BRCA2 genes associated with different breast vs ovarian cancer risks, we created bins of mutations by base pair location (Figure 1).

If all things were random, given the size of the genome (3.2 billion base pairs) and the number of mutations per individual (~ 40), we expect them to be pretty far apart.

Oncologists will potentially be able to use the results to pair patients with the most effective drugs for their tumors, and researchers may improve clinical trial results by selecting those patients most likely to respond to a specific drug based on the mutations in their prostate tumors.

They focused their analysis on the simplest and most common mutations, those that alter just one letter, a single base pair, of DNA.

The DNA fragments from ancient specimens do not overlap perfectly due to degradation of the DNA code, causing mismatches in base pairs that were originally the same — these are «false mutations».

Using exome sequences from 3222 British - Pakistani individuals with high parental relatedness, we estimate a mutation rate of 1.45 ± 0.05 × 10 -LRB--8) per base pair per generation in autosomal coding sequence, with a corresponding non-crossover gene conversion rate of 8.75 ± 0.05 × 10 -LRB--6) per base pair per generation.

In addition to the large CNV mutations they had spotted earlier, they also found de novo changes in single base pairs of DNA — known as single - nucleotide variants (SNVs)-- and small de novo insertions or deletions in chromosomes, all of which made the picture even more complex.

Mutations have recently been associated with both disorders; a 1 - base pair insertional mutation in exon 1 of COL9A3 is associated with DRD1 and a 1,267 - bp deletion in the 5» end of COL9A2 co segregates with DRD2.