Sentences with phrase «copy of a gene»

Gene therapy involves the delivery, using a modified virus, of a healthy copy of a gene to make up for one that's deficient in a way that causes disease.

Things get more complicated if the gene is recessive and a woman would need to get copies of the gene from both parents in order to express it.

Since all people have two copies of every gene, combinations of the TAS2R8 gene variants determine whether someone tastes bitter foods intensely.

If you're a carrier of a defective gene for a recessive disorder, that means you have one normal copy of the gene from one of your parents and one defective copy from the other.

If you have one non-functional copy of the gene, you're fine.

Researchers still have much to learn about the imprinting process and the genes involved, Zhang says, but the discovery of a second mechanism for silencing one copy of these genes underscores imprinting's importance.

Both mouse and human males typically die early from the mutation in Mecp2, because their Y chromosome does not supply a normal copy of the gene.

Lacking money to outfit the new lab, Wang and Xin bought used equipment: a single channel DNA sequencer (bought and barely touched by a Harvard Medical School researcher); second - hand centrifuges and pipettes; a reconditioned CytoScan HD system that detects variations in the number of copies of a gene.

Chen and his colleagues, postdocs Xiongyi Huang, Jennifer Kan, and graduate student Ruijie Zhang, did this by giving the bacteria a copy of a gene that encodes an enzyme called cytochrome P450.

Of these, 43 people carried at least one copy of the gene variant.

The two parents are healthy because each carries a copy of the gene that works, but their child inherits two damaged copies.

About one in 8,000 children is born with some form of SMA in which mutations in both copies of the gene that code for the survival motor neuron (SMN) protein cripples its production.

However, in some spots, an organism may have long strips of identical DNA in both copies of a gene.

The mutation is on the X chromosome so female children with two X chromosomes should have at least one functioning copy of the gene.

Taking advantage of the handful of complete human genome sequences now available, the pair looked at how alleles — the two copies of each gene we inherit from our parents — differ within a genome.

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA.

But first he needed copies of the gene; it had to be cloned.

AN EXTRA copy of a gene on chromosome 21 may explain why people with Down's syndrome are less likely to get breast and lung cancer than the rest of the population.

Tumours in these mice grew 50 per cent more slowly than those in healthy mice, indicating that one extra copy of the gene has a significant effect on tumour growth (Nature, DOI: 10.1038 / nature08062).

Thirty to 50 percent of multiple myeloma patients have extra copies of the gene that encodes the enzyme ADAR1.

Huntington's is heritable — a copy of the gene from either parent guarantees a person will develop the disease.

But beyond simply lowering cholesterol, the 82 people with inactive copies also had about half the risk of coronary heart disease as people with two functional copies of the gene.

Faulty or inactive copies of the gene greatly increase the chances that a cell will become cancerous.

The last piece of evidence together with the fact that the parents do not carry the alterations suggest that the extra copies of genes may have occurred either in the sperm or the egg, the parent's germ cells, and before or very early after fertilization.

So even though we inherit two copies of every gene — one from our mother, one from our father — whether the gene is methylated often determines which of the two genes will be turned on.

Another is to change the number of expressed copies of a gene in each cell.

The investigators found that people with only one working copy of the gene had LDL cholesterol levels an average of 12 milligrams per deciliter lower than the wider population of people with two working copies of the gene.

«When people have one copy of a gene not working, it's a little like taking a drug their entire lives that is inhibiting this gene.»

The findings jibe with previous reports that PCR tests sometimes overlook a gene with large deletions, detecting only the other, normal copy of the gene.

«For example, among individuals carrying the SNP sequence «TGT» at all three locations on both copies of the gene, 62 percent were blue - eyed,» says Sturm's colleague David Duffy.

For instance, doctors might be able to turn on alternate copies of genes to compensate for missing proteins or to reinvigorate genes that grow sluggish with age.

«Analyzing copies of genes offers new treatment possibilities for ovarian cancer.»

Everyone was used to thinking that we get one copy of each gene from our mother, one from our father.

Such plants have two mutant copies of a gene called hothead, which differ from the normal gene by a single base pair.

A team of 18 University of California San Diego School of Medicine and Moores Cancer Center researchers has developed a new tool to analyze an often overlooked aspect of cancer genetics — an alteration that results in the loss or gain in a copy of a gene.

The two studies together suggest that single copies of inactivating ANGPTL3 mutations are found in roughly one of every 250 people of European descent, whereas people with mutations in both copies of the gene — as in the family studied by Musunuru and colleagues — are much rarer.

Giving multiple copies of the gene to addicts would prevent them...

She harbors two mutant copies of a gene, and therefore lacks a protein that manages blood clotting, but researchers found that people with one inactivated gene copy outlive their peers by a decade and gain protection against diabetes.

The new method has been tested in greenhouse trials to show that the more copies of the gene, the greater the resistance to soybean cyst nematode.

Although the researchers suspected that having more copies of the gene sequence might confer a greater degree of resistance, they had no way of testing their suspicions before the new assay was developed.

Fay notes that people who harbor one mutated copy of the gene seem to have normal blood clotting, so blocking PAI - 1 might not trigger dangerous bleeding.

The population study findings, including those from the JACC study, suggest that even the partial inactivation of ANGPTL3 — carriers typically have one mutant copy of the gene and one working copy — may be powerfully protective against coronary artery disease, which has long been one of the leading causes of death in developed countries.

But males have only one X chromosome, and therefore just one copy of the gene, so any disruption will turn them yellow.

One of Beaudet's graduate students — Linyan Meng — was writing her dissertation on Angelman syndrome and was wrestling with this problem when a member of her dissertation committee, Dr. Thomas Cooper, professor of pathology & immunology at Baylor, said he was working with a Carlsbad, Calif. - based company called Isis Pharmaceuticals that had anti-sense oligonucleotides that could turn off the antisense transcript that silenced the paternal copy of the gene.

And because mouse embryo cells with inactivated copies of BRCA2 are more sensitive to ionizing radiation than normal cells are, «it's a reasonable extrapolation» that breast cancers with mutated copies of the gene may be especially good candidates for radiation therapy.

By comparing the genetic sequences of the mutant and normal flies, the researchers found that the forgetful flies had an inactive copy of a gene that he and his Chilean collaborators dubbed Volado (Vol)-- South American slang for absentminded.

Instead, embryos used the mother's healthy copy of the gene to repair the cut.

To find out, the scientists bred mice that lacked either one or both copies of the gene.

Angelman syndrome, which causes learning difficulties, speech problems, seizures, jerky movements and an unusually happy disposition, results when a gene inherited from the mother in a particular area of chromosome 15 is mutated and the other copy of the gene, inherited from the father, is silenced.

He or she also has a paternal copy of the gene, but it is silenced by a long ribbon of RNA called the UBE3A anti-sense transcript.