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Hemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting.
… in blood clotting. … Hemophilia, Blood Clotting, X Chromosome, Gene, Mutation … Hemophilia is an inherited … blood clotting. The responsible gene is located on the X chromosome, and since males inherit only one copy of the X chromosome, if that chromosome carries the mutated gene then …
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Deletion is a type of mutation involving the loss of genetic material.
… of genetic material. … Genetic Mutation, Base Pair, DNA, Chromosome … A deletion, as related to genomics, is a type of … from a single nucleotide to an entire piece of a chromosome. … Deletion is a type of mutation involving the …
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A somatic cell is any cell of the body except sperm and egg cells.
… any cell of the body except sperm and egg cells. … Cell, Chromosome, Diploid, Mutation, Germ Line … Somatic cells are …
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A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next.
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Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
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Homologous recombination is a type of genetic recombination that occurs during meiosis (the formation of egg and sperm cells).
… DNA sequences can cross over, or be exchanged, from one chromosome to the other. This exchanging of DNA is an …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
Educational Resources
Homozygous is a genetic condition where an individual inherits the same alleles for a particular gene from both parents.
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A nucleosome is the basic repeating unit of eukaryotic chromatin.
… unit of eukaryotic chromatin. … Nucleus, Chromatin, Chromosome, Deoxyribonucleic Acid (DNA), Histone, Protein … A … wrapped around a core of histone proteins. In forming a chromosome, the nucleosomes repeatedly fold in on themselves …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.