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News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. They published … Metabolism . … A single mutation in the Gaucher disease gene, GBA1, is frequently found in patients who have … mice were then mated with mice missing a copy of the GBA1 gene. The resulting mice - with both extra mutated …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
… Genetic Code … The instructions in a gene that tell the cell how to make a specific protein. … … … Genetic code refers to the instructions contained in a gene that tell a cell how to make a specific protein. Each gene’s code uses the four nucleotide bases of DNA: adenine …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… common in other populations. A mutation in the factor V gene (F5) increases the risk of developing factor V Leiden … individuals. There are some individuals who have the F5 gene and who never develop thrombosis, while others have … This variability is influenced by the number of F5 gene mutations a person has, the presence of other gene …
Educational Resources
Heterozygous refers to having inherited different forms of a particular gene from each parent.
… refers to having inherited different forms of a particular gene from each parent. … Heterozygous, Homozygous, Gene, Family Health History, Mutation … Heterozygous, as …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… Public Liaison Branch … A new study highlights how genomic mutations that cause mitochondrial disease may also … T-cells play important roles in human immune response. The mutations resulted in an increased risk of infection and … Infection and Immunity in Inborn Errors of Metabolism … Mutations Reduce Protective Immunity … Related Content … …
Educational Resources
A polygenic trait is one whose phenotype is influenced by more than one gene.
… is one whose phenotype is influenced by more than one gene. … Gene, Genotype, Inherited, Mendelian Inheritance, Phenotype, … is one whose phenotype is influenced by more than one gene. … Educational Resources …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… studying a family with a rare disease encounter DNA mutations or variants that appear to be responsible - only to … focus on several key areas, such as study design, gene- and variant-level implication, databases and implications for diagnosis. Gene-level implication refers to finding evidence that an …
Educational Resources
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest.
… genes and other DNA sequences of interest. … Chromosome, Gene, Deoxyribonucleic Acid (DNA), Positional Cloning … A …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… one in 40,000 live births. … Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth … a mutation in the FGFR3 gene. Genetic testing can identify mutations in 99 percent of individuals who have …
Educational Resources
A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address.
… Locus … A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address. … Locus, Allele, DNA Polymorphism, Gene, Chromosome … A locus, as related to genomics, is a physical site or location within a genome (such as a gene or another DNA segment of interest), somewhat like a …