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Loss of heterozygosity information


An example of loss of heterozygosity over time, in bottlenecking population. Different alleles painted in different colors. A diploid population of 10 individuals, that bottlenecked down to three individuals repeatedly, resulted in all individuals homozygous.

Loss of heterozygosity (LOH) is a type of genetic abnormality in diploid organisms in which one copy of an entire gene and its surrounding chromosomal region are lost.[1] Since diploid cells have two copies of their genes, one from each parent, a single copy of the lost gene still remains when this happens, but any heterozygosity (slight differences between the versions of the gene inherited from each parent) is no longer present.

  1. ^ [Association of the autoimmune diseases scleroderma with an immunologic response to cancer,] Christine G. Joseph et al., Science, 343:152 (10 January 2014)

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Loss of heterozygosity

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Loss of heterozygosity (LOH) is a type of genetic abnormality in diploid organisms in which one copy of an entire gene and its surrounding chromosomal...

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Zygosity

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its heterozygosity is proven to be at least as great as the least heterozygous source population and potentially more than the heterozygosity of all the...

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Founder effect

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{\displaystyle h} equals heterozygosity. The population of the founders of the colony can also be calculated if the loss of heterozygosity from the bottleneck...

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Virtual karyotype

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segments and UPD will show loss of heterozygosity (LOH) with a copy number of two by SNP array karyotyping. The term Runs of Homozgygosity (ROH), is a...

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Disease gene identification

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adequate marker of regions of homozygosity and heterozygosity. Modern day SNP arrays are used to survey the genome and identify large regions of homozygosity...

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Mutation

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transformation (a transformation from normal cells to cancer cells). Loss of heterozygosity: loss of one allele, either by a deletion or a genetic recombination...

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Small population size

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result of population bottlenecks from larger populations, leading to loss of heterozygosity and reduced genetic diversity and loss or fixation of alleles...

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Tet methylcytosine dioxygenase 2

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copy-neutral loss of heterozygosity (CN-LOH) in patients with diverse myeloid malignancies. TET2 encodes a protein that catalyzes the conversion of the modified...

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Oligodendroglioma

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of 39 (69%) cases; there was no significant difference in 1p/19q loss of heterozygosity status between low-grade and anaplastic oligodendroglioma. 1p/19q...

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Polycythemia vera

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together with the short arm of chromosome 9 (9p), likely due to mitotic recombination causing copy-neutral loss of heterozygosity. While the JAK2 V617F mutation...

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Hyperinsulinemic hypoglycemia

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Paternal SUR1 mutation with clonal loss of heterozygosity of 11p15 Paternal Kir6.2 mutation with clonal loss of heterozygosity of 11p15 Diffuse hyperinsulinism...

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Neurofibroma

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neurofibromin. While one defective allele may be inherited, loss of heterozygosity (LOH) must occur before a neurofibroma can form; this is called the...

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Homologous recombination

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of heterozygosity caused by increased homologous recombination. A loss in heterozygosity refers to the loss of one of two versions—or alleles—of a gene...

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SNP array

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For example, SNP arrays can be used to study loss of heterozygosity (LOH). LOH occurs when one allele of a gene is mutated in a deleterious way and the...

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Netrin receptor DCC

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Besides from loss of heterozygosity of DCC, this mechanism of apoptosis can also be avoided in malignant processes by overexpression of netrin-1. DCC...

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Chromosomal crossover

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interconnections between these two pathways—class I crossovers can compensate for the loss of class II pathway. In MUS81 knockout mice, class I crossovers are elevated...

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Protein acetylation

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00222. PMC 7401105. PMID 32461302. Neubauer M, Innes RW (August 2020). "Loss of the Acetyltransferase NAA50 Induces Endoplasmic Reticulum Stress and Immune...

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Lymphangioleiomyomatosis

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chromosomal region containing the wild-type copy of the TSC2 gene; this is referred to as loss of heterozygosity or LOH. LOH can be detected in microdissected...

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Uveal melanoma

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detected by tests for chromosome 3 loss of heterozygosity. Monosomy 3, along with other chromosomal gains, losses, amplifications, and LOH, can be detected...

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Endometrial cancer

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gene, commonly p53 or PTEN. In 20% of endometrial hyperplasias and 50% of endometrioid cancers, PTEN has a loss-of-function mutation or a null mutation...

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Neuroblastoma

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including neuroblastomas, because they can detect copy neutral loss of heterozygosity (acquired uniparental disomy). Copy neutral LOH can be biologically...

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Electric ant

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would result from random fusion of meiotic products leading to loss of heterozygosity. In general, parthenogenesis appears to be favored in recently disturbed...

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Glioblastoma

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expression of EGFR, whereas the gene TP53 (p53), which is often mutated in glioblastoma, is rarely mutated in this subtype. Loss of heterozygosity in chromosome...

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Golden trout

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areas for long periods create a significant risk of inbreeding depression, and loss of heterozygosity and genetic variance. Oncorhynchus mykiss gilberti—Kern...

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Inbreeding avoidance

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interactions between compatible genes from the parents. In inbreeding, loss of heterozygosity contributes to the overall decreased reproductive success, but when...

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