• chromosome
  • In regions of UPD, portions of one of the chromosomes are lost and replaced by the exact copy of the remaining chromosome (either paternal or maternal), resulting in the retention of 2 copies of genetic information but the loss of polymorphic differences that existed due to the presence of maternal and paternal genes in this region of a diploid chromosome set. (aacrjournals.org)
  • The homogametic sex (females in humans) receive two of each sex chromosome and therefore need to be homozygous to show a recessive trait. (wikipedia.org)
  • Methylation
  • Methylation of p14 ARF was found in 3/25 cases (12%) and alterations in p16 INK4a occurred in 6/25 liver cell adenomas (24%) which correlated with loss of mRNA transcription. (bmj.com)
  • genes
  • The classical example of such a loss of protecting genes is hereditary retinoblastoma, in which one parent's contribution of the tumor suppressor Rb1 is flawed. (wikipedia.org)
  • Having a homozygous pair of genes with the ΔF508 mutation prevents the CFTR protein from assuming its normal position in the cell membrane. (wikipedia.org)
  • tumors
  • The loss of nuclear SMAD4 expression in primary tumors correlated significantly with poor survival, and was an independent prognostic marker in multivariate analysis. (aacrjournals.org)
  • Genomic
  • Background High-resolution genomic microarrays enable simultaneous detection of copy-number aberrations such as the known recurrent aberrations in chronic lymphocytic leukemia [del(11q), del(13q), del(17p) and trisomy and copy-number neutral loss of heterozygosity. (lu.se)
  • genotype
  • In contrast to D-positive red cells, D-negative subpopulations were also negative for C or E in patients genotyped CcDdee or ccDdEe , respectively, which suggested the presence of erythrocyte precursors with an apparent homozygous cde / cde or hemizygous cde /- genotype. (bloodjournal.org)
  • mutant
  • Most animals with loss-of-function let-7 mutation burst through their vulvas and die, and therefore the mutant is lethal (let). (wikipedia.org)
  • symptoms
  • Other neurological symptoms include peripheral neuropathy, loss of sensation in extremities caused by damage to the peripheral nervous system. (wikipedia.org)
  • copy
  • Loss of heterozygosity due to loss of one parental copy in a region is also called hemizygosity in that region. (wikipedia.org)
  • Although most cells will have a functional second copy, chance loss of heterozygosity events in individual cells almost invariably lead to the development of this retinal cancer in the young child. (wikipedia.org)
  • One hypothesis as to why the otherwise detrimental mutation has been maintained by natural selection is that a single copy may present a positive effect by reducing water loss during cholera, though the introduction of pathogenic Vibrio cholerae into Europe did not occur until the late 18th century. (wikipedia.org)
  • cells
  • We found loss of SMAD4 protein expression in the cytoplasm (36 of 114, 32%) and in the nucleus (46 of 114, 40%) of gastric cancer cells. (aacrjournals.org)
  • Anti-Kidd antibodies appear to react more strongly against cells that are homozygous. (wikipedia.org)
  • DLC1 is also involved in the formation of focal adhesions, so loss of DLC1 leads to reduced cell adhesion and increased metastatic potential of cells. (wikipedia.org)
  • shown
  • Loss of the tumor suppressor FBXW7 has recently been shown to correlate with increased sensitivity of tumor cell lines to treatment with PI3K pathway inhibitors ( 10 ) and appears to have a reciprocal relationship with PTEN loss. (aacrjournals.org)
  • For example: It has been shown that heterozygosity for cystic fibrosis is associated with increased airway reactivity, and heterozygotes may be at risk for poor pulmonary function. (wikipedia.org)
  • early
  • Homozygous disruption of SMAD4 in mice caused early embryonic lethality, making it difficult to study the function of SMAD4 during later stages of development and tumorigenesis in Smad4 -knockout mice ( 15 ). (aacrjournals.org)