Not exact matches
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.
Previous studies in nearly 3000 HIV - infected people had failed to uncover a
single person who had inherited
copies of the mutated
gene that produces the CCR5 protein from both parents.
Such plants have two mutant
copies of a
gene called hothead, which differ from the normal
gene by a
single base pair.
The samples were analyzed by liquid chromatography - mass spectrometry (LC - MS) to characterize the metabolite composition («metabolomics»), and biocrust DNA was extracted for shotgun sequencing to measure
single copy gene markers for the dominant microbe species («metagenomics»).
In the U.S., this behavioral division follows a genetic one: workers bearing two
copies of one form, or allele, of the Gp - 9
gene live in nests governed by a
single matriarch, whereas those that have one
copy or a pair of a second allele take orders from a female oligarchy.
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.
Then they induced a
single, 12 - base strand of DNA from the human p53
gene to build a complementary
copy of itself out of the modified nucleotides.
In Angelman's syndrome a child receives two
copies of
genes on chromosome 15 from his or her father, and a
single inactivated
copy of those
genes from his or her mother.
«That really was definitive proof that a
single, non-mutated
copy of this
gene is enough to allow people to mount a response to the virus,» says Ciancanelli.
Sickle cell disease is a recessive genetic disorder caused by a
single mutation in both
copies of a
gene coding for beta - globin, a protein that forms part of the oxygen - carrying molecule hemoglobin.
The team found that adding in a
single extra
copy of
gene that expresses Maf1 decreased stored lipids by 34 percent, while reducing Maf1 levels increased stored lipids by 94 percent.
Their grandparents were first cousins, a close connection that implied the children inherited
copies of a
single defective
gene.
He focused on the 2300
genes that exist in
single copies in all the bats, the dolphin, and at least five other mammals.
Instead, Werren likened the functionality of these
single -
copy genes to «moonlighting» for extra cash, with the
genes taking on a «night job» in the venom gland in addition to their «day job» elsewhere in the body.
BROCA detects all
single base substitutions, insertions and deletions and
copy number variants in all 24
genes implicated in breast cancer.
The prevalence of the
single copy of the
gene varies, but in some malaria - prone pockets of India, Africa, and Saudi Arabia, up to 35 percent to 45 percent of the population have the trait.
Typically, genome analysis studies primarily look for
single changes — one altered unit of DNA — not wholesale
copying or halving of
genes.
About 1 in 25 people in white populations carry one normal
copy of the
gene and one mutated
copy, and 70 per cent of all CF carriers in the northern European group carry the same
single mutation in the
gene.
Individual screening tests can already identify silent carriers of many
single faulty recessive
genes — the kind that, when inherited in double (one
copy from each parent), can lead to conditions such as cystic fibrosis and Tay - Sachs disease.
The team also compared the 7442
genes found as
single copies in both the cobra and the python with the same
genes in all other land vertebrates sequenced so far.
Scientists had simply inserted a
single gene into bacteria and coaxed them into churning out as many
copies of the same protein as possible.
Rather than being triggered by a
single gene mutation, the tumors are caused by too many or too few
copies of a
gene in a person's cells.
A
copy number variant may affect dozens of
genes, or it can disrupt or duplicate a
single gene.
The end result, Bier says, is that both
copies of a
gene could be inactivated «in a
single shot.»
But an alternative explanation is that inheriting recessive
copies of a
single gene from both parents often, but not always, causes the disorder.
Carrying two
copies of a
single - letter change in the DNA of chromosome 16 led to a 35 per cent increase in activity of the
gene GSPT1 ¬ in men with testicular cancer, compared with those without.
First, the ability to mutate both
copies of a
gene in a
single generation should greatly accelerate genetic research in diverse species.
«Because individuals carrying a
single mutant
copy of a
gene often mate with an individual with two normal
copies of
gene, defects can be hidden for a generation and then show up in the grandchildren,» Bier adds.
The investigators found that people who carry a
single copy of the KL - VS variant of the KLOTHO
gene, roughly 20 percent of the population, have more klotho protein in their blood than non-carriers.
The researchers found that people who carry a
single copy of the KL - VS variant of the KLOTHO
gene perform better on a wide variety of cognitive tests.
The most famous one is the
gene that causes sickle cell anemia: While two
copies of that
gene cause a disease that's devastating in its own right, a
single copy creates a healthy child with strong malarial resistance.
The researchers chose to explore its potential in mice with a dominant cataract disorder caused by a
single copy of a
gene known as Crygc.
As an example, skeletal malformations and dysplasias, often detected through routine prenatal ultrasound examination, constitute a phenotypic finding in more than 300 syndromic and non-syndromic disorders and their genetic etiology may be due to a wide variety of genetic aberrations, ranging from
copy number variations to
single gene mutations.
Using this technology, we screened 31 patient samples across an array containing a total of 162 exons for five disease
genes and detected
copy - number changes, ranging from whole -
gene deletions and duplications to
single - exon deletions and duplications, in 100 % of the cases.
Developing novel tools to quantify
gene expression in
single cells As it has become increasingly apparent that
gene expression in individual cells deviates significantly from the average behavior of cell populations, new methods that provide accurate integer counts of mRNA
copy numbers in individual cells are needed.
These
genes include the
single -
copy gene encoding the telomere resolvase, which converts the replicated telomeres of linear DNA into the characteristic hairpin ends of the linear chromosome and plasmids of B. burgdorferi (43).
Amphimedon has
single copies of most metazoan kinase classes, but has several expansions of over 50
genes per class.
This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate
genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and
gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in
genes or proteins; (e) Studies of DNA
copy number variants, non-coding RNA, genome deletions, insertions, duplications and other
single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.
Lloyd Trotman's recent research path begins at his discovery some years ago that the loss of a
single copy of a master tumor suppressing
gene called PTEN is sufficient to permit tumors to develop in animal models of prostate cancer.
Genome - wide analysis of CNVs revealed that a
single copy of the mdr1
gene on chromosome 5 and a novel amplification of the plasmepsin 2 and plasmepsin 3
genes on chromosome 14 also associate with raised piperaquine IC
50 s.