• chromosomal
  • Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). (wikipedia.org)
  • However, results are usually not available for 3-4 days or more.Furthermore, we detected two chromosome X monosomy mosaic cases in which the mosaism rates estimated by array-MLPA were basically consistent with the results from karyotyping.Our study demonstrates the successful application and strong potential of array-MLPA in clinical diagnosis and prenatal testing for rapid and sensitive chromosomal aneuploidy screening. (nih.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 13. (nih.gov)
  • Robertsonian translocation (ROB) is a rare form of chromosomal rearrangement where the participating chromosomes break at their centromeres and the long arms fuse to form a single, large chromosome with a single centromere. (wikipedia.org)
  • Telomere: Used to maintain chromosomal integrity by capping off the ends of the linear chromosomes. (wikipedia.org)
  • Those hosted by the Sanger Institute include: COSMIC, a catalogue of somatic mutations in cancer DECIPHER, a database of chromosomal imbalance and phenotype in humans, using Ensembl resources Ensembl, a genome browser co-hosted by the European Bioinformatics Institute. (wikipedia.org)
  • occur
  • The most frequent forms of Robertsonian translocations are between chromosomes 13 and 14, 14 and 21, and 14 and 15, and occur when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost. (wikipedia.org)
  • Up-regulation of ALOX5 may occur during the maturation of leukocytes and in human neutrophils treated with granulocyte macrophage colony-stimulating factor and then stimulated with physiological agents. (wikipedia.org)
  • Alleles occur at different frequencies in different human populations, with populations that are more geographically and ancestrally remote tending to differ more, a phenomenon known as isolation-by-distance. (wikipedia.org)
  • For medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in people from specific geographic regions. (wikipedia.org)
  • Population differences occur due to several causes, including random genetic drift, the influence of small migrant populations (the "founder effect"), and differences in selective pressures acting on human populations in different environments. (wikipedia.org)
  • genetic
  • This genetic change fuses part of the ZMYM2 gene on chromosome 13 with part of the FGFR1 gene on chromosome 8. (nih.gov)
  • A feature of chromosomes that are commonly found to undergo such translocations is that they possess an acrocentric centromere, partitioning the chromosome into a large arm containing the vast majority of its genes, and a short arm with a much smaller proportion of genetic content. (wikipedia.org)
  • The Institute's research in human genetics focuses on the characterisation of human genetic variation in health and disease. (wikipedia.org)
  • Human genetic variation is the genetic differences in and among populations. (wikipedia.org)
  • The differences between populations represent a small proportion of overall human genetic variation. (wikipedia.org)
  • The study of human genetic variation has evolutionary significance and medical applications. (wikipedia.org)
  • In humans, founder effect and past small population size (increasing the likelihood of genetic drift) may have had an important influence in neutral differences between populations. (wikipedia.org)
  • citation needed] Genetic variation among humans occurs on many scales, from gross alterations in the human karyotype to single nucleotide changes. (wikipedia.org)
  • Nearly all (>99.9%) of these sites are small differences, either single nucleotide polymorphisms or brief insertion-deletions in the genetic sequence, but structural variations account for a greater number of base-pairs than the SNPs and indels. (wikipedia.org)
  • exon
  • citation needed] There are slight variations (mutations/polymorphisms) in the human gene: A 48-base pair VNTR in exon 3 C-521T in the promoter 13-base pair deletion of bases 235 to 247 in exon 1 12 base pair repeat in exon 1. (wikipedia.org)
  • The 48-base pair variable number tandem repeat (VNTR) in exon 3 range from 2 to 11 repeats. (wikipedia.org)
  • promoter
  • Kelavkar and Badr (1999) described experiments yielding data that supported the hypothesis that loss of the TP53 gene, or gain-of-function activities resulting from the expression of its mutant forms, regulates ALOX15 promoter activity in human and in mouse, albeit in directionally opposite manners. (wikipedia.org)
  • The promoter is 819 base pairs in length and is highly conserved in mammals. (wikipedia.org)
  • occurs
  • When cell division occurs during reproduction, the chromatin forms with the DNA into a chromosome. (reference.com)
  • An analysis of normal human tissues shows that C12orf40 expression occurs primarily in the testis, suggesting importance to the male reproductive system. (wikipedia.org)
  • centromere
  • Some sequences are required for a properly functioning chromosome: Centromere: Used during cell division as the attachment point for the spindle fibers. (wikipedia.org)
  • monosomy
  • Array-MLPA analysis of chromosome X monosomy mosaicism. (nih.gov)
  • Furthermore, we detected two chromosome X monosomy mosaic cases in which the mosaism rates estimated by array-MLPA were basically consistent with the results from karyotyping. (nih.gov)
  • In this study, two cases (B10 and B11) with chromosome X monosomy mosaicism were identified successfully by array-MLPA (Table 2). (nih.gov)
  • For mosaic samples, the ratio reflects the extent of mosaicism, e.g. ratio 0.75 for a 50% chromosome X monosomy in a female sample. (nih.gov)
  • variants
  • There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism. (wikipedia.org)
  • As of 2017[update], the Single Nucleotide Polymorphism Database (dbSNP), which lists SNP and other variants, listed 324 million variants found in sequenced human genomes. (wikipedia.org)
  • While human results are controversial, an increasing body of animal evidence has linked DRD4 variants with novelty seeking, and new evidence suggests that human encroachment may exert selection pressure in favor of DRD4 variants associated with novelty seeking. (wikipedia.org)
  • It can be transcribed into 15 transcript variants, which in turn can produce 13 different isoforms of the protein. (wikipedia.org)
  • karyotype
  • G-banded karyotype analysis showed that their chromosome karyotypes were 45,X/46,X,i(X)(q10) and 45,X/47,XXX for B10 and B11 respectively, which were basically consistent with array-MLPA results (Figure 4). (nih.gov)
  • species
  • The number of chromosomes of a species has little to do with the complexity of the organism or the amount of DNA. (thethinkingatheist.com)
  • The advances in technology allow the Sanger Institute to carry out sequencing of the genomes of individual humans, vertebrate species and pathogens, at an ever-increasing pace and reducing cost. (wikipedia.org)
  • different
  • this, along with their different principal product formation (e.g. 12-HETE rather than 15-HETE) has made the findings of Alox15 functions in rat, mouse, or rabbit models difficult to extrapolate to the function of ALOX15 in humans. (wikipedia.org)
  • Every chromosome is different inside a cell. (coursehero.com)
  • Microarray tissue expression patterns from GEO were analyzed and showed that CCDC47 appears to be an ubiquitously expressed at moderate levels in many different human tissues. (wikipedia.org)
  • cDNA
  • Cross-hybridization of the mouse cDNA to a human thymus library yielded the human homolog, which encodes a protein 83% identical to the mouse ectodomain. (jax.org)
  • Researchers
  • In addition to what you said above, I heard researchers are recently trying to use animal organs such as that of a pig's to be used for organ transplantation into humans. (thethinkingatheist.com)
  • carcinomas
  • Amplified region of chromosome band 11q13 in breast and squamous cell carcinomas encompasses three CpG islands telomeric of FGF3, including the expressed gene EMS1. (naver.com)
  • heterozygous
  • Bookstein R, Lee EY-HP, To H, Young LJ, Sery TW, Hayes RC, Friedmann T, Lee W-H (1988) Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants. (springer.com)
  • commonly
  • and mouse, rat, and rabbit rodent orthologs of human ALOX15, which share 74-81% amino acid identity with the human enzyme, are commonly termed Alox15, 12/15-lipoxygenase, 12/15-LOX, or 12/15-LO). (wikipedia.org)
  • enzyme
  • 15-LO is to be distinguished from another human 15-lipoxygenase enzyme, ALOX15B (also termed 15-lipoxygenase-2). (wikipedia.org)
  • Human ALOX15 was initially named arachidonate 15-lipoxygenase or 15-lipoxygenase but subsequent studies uncovered a second human enzyme with 15-lipoxygenase activity as well as various non-human mammalian Alox15 enzymes that are closely related to and therefore orthologs of human ALOX15. (wikipedia.org)
  • Arachidonate 5-lipoxygenase, also known as ALOX5, 5-lipoxygenase, 5-LOX, or 5-LO, is a non-heme iron-containing enzyme (EC 1.13.11.34) that in humans is encoded by the ALOX5 gene. (wikipedia.org)
  • NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 is an enzyme that in humans is encoded by the NDUFA13 gene. (wikipedia.org)
  • Diagram
  • In humans, cholesterol synthesis begins with the mevalonate pathway (see diagram), leading to the synthesis of farnesyl pyrophosphate (FPP). (wikipedia.org)