Sentences with phrase «find point mutations»

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.

In their study they found a point mutation in the structural gene for monoamine oxidase A (MAOA), a neurochemical in the brain, which they associated with aggressive criminal behavior among a number of males in that family (Alper, 1995).

Not exact matches

Two researchers there, Peter Underhill and Peter Oefner, had recently invented a technique for rapidly finding DNA mutations — markers — at the same point in the genomes of two different people.

The researchers found that there appeared to be a tipping point, where a patient would go from having lots of individual mutations, but no cancer, to a situation where large pieces of genetic information were being transferred not just between genes but between chromosomes.

He notes that because of the boggling number of potential factors, such as copy number variations, point mutations and epigenetic (inherited mutation) factors involved in autism, it will be important to find common pathways «because the mechanisms interrupting those pathways might be different among individuals.»

They were able to find mutations that conferred resistance that had up to this point not yet been identified.

By substituting a specific amino acid in a so - called «Notch ligand» encoded by JAGGED1, they found that this single point mutation can interfere with the important Notch signaling system and disrupt communication between the Notch ligand and the Notch receptors.

Geneticist Richard Sturm of the University of Queensland in Brisbane, Australia, an author of one of the papers says that someday scientists may find additional mutations that cause blue eyes but for now, the signs point to a single change.

We generated an Xpd knock - in allele with a point mutation encoding a single amino acid change (XPDG602D) found in the XPCS patient XPCS2 (Figure 1A — 1C).

Findings: A single point mutation (Val617Phe) was identified in JAK2 in 71 (97 %) of 73 patients with polycythaemia vera, 29 (57 %) of 51 with essential thrombocythaemia, and eight (50 %) of 16 with idiopathic myelofibrosis.

When Parker and colleagues at the National Human Genome Research Institute in Bethesda, MD, went looking for gene responsible for little legs across all these breeds, they expected to find a «point mutation,» a small change in the DNA sequence.

Altogether, beside the mutations targeting the JH1 / JH2 interface, the other activating mutations found in this study point to two other hotspots for the regulation of JAK enzymatic activity: the hinge region and in the loop formed between β2 - and β3 - strand in the kinase domain.

Mitochondrial (mt) Point Mutations are single nucleotide polymorphisms (SNPs) detected in the ring - shaped chromosome found in the cell's energy - producing organelle.

Vetgen is now offering a test for a mutation that is found in all tan point, phantom, tricolor, and «black / tan, chocolate / tan and liver / tan» dogs.

The Brunner et al. study is the only one to report findings of a relationship between a point mutation in the structural gene for MAOA and aggression, which makes the findings rare.