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Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… DNA sequences near genes that control when and how much a gene is turned on and off, or expressed, are often extremely important for gene activity. … To paint a clearer picture of how such variation affects gene activity, Fernando Pardo Manuel de Villena, Ph.D., at …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… intellectual disability caused by a mutation in the FMR1 gene. … are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is … expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… An oncogene is a mutated gene that contributes to the development of a cancer. … Mutagen, Cancer, Cell, Mutation, Tumor Suppressor Gene … An oncogene is a mutated gene that has the potential to cause cancer. Before an … An oncogene is a mutated gene that contributes to the development of a cancer. …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … also provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. Genetic maps have been used … as markers. DNA markers don't, by themselves, identify the gene responsible for the disease or trait; but they can tell …
Educational Resources
Sex linked is a trait in which a gene is located on a sex chromosome.
… Sex linked is a trait in which a gene is located on a sex chromosome. … Cell, Mutation, Gene, Sex Chromosome … Sex linked is a trait in which a gene is located on a sex chromosome. …
Educational Resources
An exon is the portion of a gene that codes for amino acids.
… An exon is the portion of a gene that codes for amino acids. … An exon is the portion of a gene that codes for amino acids. …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
… whereas genetics refers to the study of a particular gene. … Genomics, Genes, Gene Expression, Human Genome Project … whereas genetics refers to the study of a particular gene. …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… Free CAT scan to detect coronary artery disease.  Finding gene changes that are important to your health and/or the … LG. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing … GW, Emanuel TE, Biesecker LG, et al. Prefernces for result delivery from exome sequencing/genome sequencing. Genet Med …
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
… used to locate the position of a disease-associated gene along the chromosome. … Candidate, Gene, Chromosome, Contig, Deoxyribonucleic Acid (DNA), Gene, Linkage … used to locate the position of a disease-associated gene on a chromosome. Such a strategy can succeed even when …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.