Human Genome definitions beginning with H

haploid - permalink - collapse

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A single set of chromosomes (half the full set of genetic material) present in the egg and sperm cells of animals and in the egg and pollen cells of plants. Human beings have 23 chromosomes in their reproductive cells. See also: diploid
Human Genome Project - Cite This Source - This Definition
The number of chromosomes in a sperm or egg cell, half the diploid number. See also chromosome, diploid, genome
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: diploid, Gamete, Germ cell, Pronucleus

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haploinsufficiency - permalink - collapse

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A situation in which the protein produced by a single copy of an otherwise normal gene is not sufficient to assure normal function. See also gene, protein
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: Chloroplast chromosome, duplication, Gene amplification, hemizygous, monosomy, Recessive gene, trisomy

haplotype - permalink - collapse

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A way of denoting the collective genotype of a number of closely linked loci on a chromosome.
Human Genome Project - Cite This Source - This Definition
Browse Related Terms: Genetic marker, Linkage, lod score, Marker, reporter gene

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hematopoietic stem cell - permalink - collapse

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An unspecialized precursor cell that will develop into a mature blood cell. See also cell
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: apoptosis, Embryonic stem (ES) cells, hematopoietic stem cell, Melanoma, Niemann-Pick disease, type C (NPC), Pluripotency, Somatic cell, Somatic cells

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hemizygous - permalink - collapse

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Having only one copy of a particular gene. For example, in humans, males are hemizygous for genes found on the Y chromosome.
Human Genome Project - Cite This Source - This Definition
Browse Related Terms: Chloroplast chromosome, duplication, Gene amplification, haploinsufficiency, monosomy, Recessive gene, trisomy

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Hemophilia - permalink - collapse

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A sex-linked inherited bleeding disorder that generally only affects males. The disorder is characterized by a tendency to bleed spontaneously or at the slightest injury because of the lack of certain clotting factors in the blood. See also inherited, protein, sex-linked
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: adenosine deaminase deficiency (ADA), Constitutive ablation, Hirschsprung's disease, Huntington's disease, neurofibromatosis, Parkinson's disease, primary immunodeficiency, severe combined immunodeficiency (SCID)

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heterozygous - permalink - collapse

All > Science > Biotechnology and Genetics > Human Genome

Possessing two different forms of a particular gene, one inherited from each parent. See also chromosome, gene, inherited
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: Carrier, homozygous, Imprinting, recessive

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highly conserved sequence - permalink - collapse

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DNA sequence that is very similar across several different types of organisms. See also: gene, mutation
Human Genome Project - Cite This Source - This Definition
A DNA sequence that is very similar in several different kinds of organisms. Scientists regard these cross species similarities as evidence that a specific gene performs some basic function essential to many forms of life and that evolution has therefore conserved its structure by permitting few mutations to accumulate in it. See also gene, mutation
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: conserved sequence, Evolutionarily conserved, genetic polymorphism, homology, polymorphism, synteny

High-throughput sequencing - permalink - collapse

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A fast method of determining the order of bases in DNA. See also: sequencing
Human Genome Project - Cite This Source - This Definition
Browse Related Terms: Base sequence, Base sequence analysis, Complementary sequence, DNA sequence, DNA sequencing, Full gene sequence, Genomic sequence, Regulatory region or sequence, Sanger sequencing, sequence, Sequence assembly, Sequencing technology, Shotgun method, shotgun sequencing, Structural genomics

Hirschsprung's disease - permalink - collapse

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A congenital disorder in which part of the colon lacks nerve cells and therefore is unable to relax. The result is chronic constipation and distention of the abdomen. The disorder affects about one in 5000 U.S. newborns but can be treated with surgery. See also cell, gene, mutation
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: adenosine deaminase deficiency (ADA), Constitutive ablation, Hemophilia, Huntington's disease, neurofibromatosis, Parkinson's disease, primary immunodeficiency, severe combined immunodeficiency (SCID)

holoprosencephaly - permalink - collapse

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A birth defect where the forebrain does not separate properly into two halves during early fetal life. The disorder results in mild to severe brain malformation and is sometimes fatal. It may be caused by environmental or genetic factors. Holoprosencephaly affects between 1 in 5,000 and 1 in 10,000 live births. See also gene, inherited
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: birth defect, congenital, craniosynostosis, Ellis - van Creveld syndrome, malformation, polydactyly

homeobox - permalink - collapse

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A short stretch of nucleotides whose base sequence is virtually identical in all the genes that contain it. Homeoboxes have been found in many organisms from fruit flies to human beings. In the fruit fly, a homeobox appears to determine when particular groups of genes are expressed during development.
Human Genome Project - Cite This Source - This Definition
Browse Related Terms: Directed sequencing, Expressed sequence tag (EST), GC-rich area, Gene prediction, microsatellite, repetitive DNA, scaffold, Sequence-tagged site (STS), Tandem repeat sequences, Transposable element