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Globinsalpha-GlobinsChromosomesChromosome MappingThalassemiaChromosomes, Human, Pair 16Chromosome BandingX Chromosomealpha-ThalassemiaHylobatesBase SequenceChromosome DeletionChromosome Aberrationsbeta-ThalassemiaSex ChromosomesChromosomes, Human, Pair 1beta-GlobinsMolecular Sequence DataGenesChromosomes, HumanHemoglobins, AbnormalChromosomes, BacterialChromosome SegregationChromosomes, Human, Pair 11Genetic LinkageChromosomes, Human, Pair 7ReticulocytesDNA Restriction EnzymesChromosomes, Human, Pair 17Chromosomes, Human, Pair 6Chromosomes, Human, Pair 9Nucleic Acid HybridizationChromosomes, Human, Pair 21Chromosomes, PlantChromosomes, Human, 6-12 and XChromosomes, FungalDNAChromosomes, Human, Pair 2Chromosomes, Human, Pair 22Chromosome PairingChromosomes, MammalianChromosomes, Human, Pair 13Chromosomes, Human, Pair 4Chromosomes, Human, Pair 10HeterozygoteChromosomes, Human, Pair 19Chromosomes, Human, Pair 8Chromosomes, Human, YChromosomes, Artificial, BacterialMutationChromosomes, Artificial, YeastAmino Acid SequenceChromosome DisordersChromosomes, Human, Pair 12Chromosomes, Human, Pair 5Chromosomes, Human, XMultigene FamilyChromosomes, Human, 1-3Chromosome PaintingChromosomes, Human, Pair 15Chromosomes, Human, 16-18Cloning, MolecularKaryotypingRNA, MessengerChromosomes, Human, Pair 14Transcription, GeneticIn Situ Hybridization, FluorescenceChromosomes, Human, Pair 18Chromosomes, Human, Pair 20DNA, RecombinantChromosomes, Human, 13-15Chromosome BreakageChromosomes, Human, 21-22 and YGenetic MarkersChromosome InversionRing ChromosomesPromoter Regions, GeneticHybrid Cellsalpha 1-AntitrypsinChromosome PositioningChromosomes, Human, 4-5X Chromosome InactivationCentromereTerminator Regions, GeneticPhenotypeTranslocation, GeneticMeiosisChromosomes, InsectLeukemia, Erythroblastic, AcuteReceptors, Adrenergic, alphaRecombination, GeneticMitosisPedigreeChromosome StructuresChromosomes, Human, 19-20MetaphaseAneuploidyGene Expression RegulationHypoxia-Inducible Factor 1, alpha SubunitCrosses, Genetic
ThalassemiaGenesDeletionsMutationsBand 16p13.316p13.3TelomereAbnormalAlleleTranslocationIntronsPapillomavirusMicePolymorphismChromosomalGeneticGene clusterHemoglobinGenomicDisordersRegulatoryWrapped in 1.67 left-handedAdultEvolutionRegionsThalassaemiaHistoneGenome architectureDependentSequencesProteinDomainTypeExpressionDetermineCellAnalysisControlBaseTruePlant
Thalassemia19
  • Deletions or mutations of one or more of these genes so that the rate of production of α- or β-globin chains is reduced results in alpha thalassemia or beta thalassemia , respectively. (medscape.com)
  • Thalassemia is usually asymptomatic in carriers, or presents with anemia of varying degrees in patients in whom globin-chain production is more severely impaired. (medscape.com)
  • Patients with alpha-thalassemia trait or beta-thalassemia trait are asymptomatic but have mild microcytic hypochromic anemia, which often goes undiagnosed or is confused with iron deficiency anemia. (medscape.com)
  • Patients with severe alpha thalassemia requiring red cell transfusion (HbH disease) should be monitored closely in a similar fashion. (medscape.com)
  • Recognizing that nonimmune hydrops fetalis in mothers of Southeast Asian origin can be due to severe alpha thalassemia is important for genetic counseling and future prenatal testing. (medscape.com)
  • Globin chain synthesis, which was once used in postnatal diagnosis, has also been used on fetal cells obtained by fetoscopy to screen the fetus for thalassemia. (medscape.com)
  • Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. (ox.ac.uk)
  • We describe eight patients who have alpha thalassemia which cannot be accounted for by the Mendelian inheritance of abnormal alpha globin genes. (ox.ac.uk)
  • Initial analysis of the alpha globin gene complex (which maps to chromosome band 16p13.3), demonstrated that the alpha thalassemia results from failure of the patient to inherit an alpha globin allele from one of the parents. (ox.ac.uk)
  • Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (medscape.com)
  • Muncie HL Jr, Campbell J. Alpha and beta thalassemia. (medscape.com)
  • A): a new silent ß-globin gene variant found in coexistence with a-thalassemia in a family of African origin. (medscape.com)
  • Alpha-thalassemia in a selected population of Mexico. (medscape.com)
  • Prevalence study and molecular characterization of alpha-thalassemia in Filipinos. (medscape.com)
  • [2] There are two main types, alpha thalassemia and beta thalassemia . (drpareshmajumder.com)
  • [7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. (drpareshmajumder.com)
  • they include thalassemia syndromes, sickle cell disease & globin chain variants [1]. (scirp.org)
  • β-thalassemia results from numerous mutations or rarely deletions of the β globin gene on chromosome 11. (scirp.org)
  • The intensity of β-thalassemia may be mitigated by the production of Hb F as it may alter the imbalance of the α/β globin chain [5]. (scirp.org)
Genes7
  • Here, we show that activation of this cluster in erythroid cells dramatically affects expression of apparently unrelated and noncontiguous genes in the 500 kb surrounding this domain, including a gene (NME4) located 300 kb from the alpha-globin cluster. (ox.ac.uk)
  • Polymorphic structural variation within the globin cluster, altering the number of alpha-globin genes, affects the pattern of NME4 expression by altering the competition for the shared alpha-globin regulatory elements. (ox.ac.uk)
  • The gene, called 16pHQG;16 (HGMW-approved symbol LUC7L), is widely transcribed and lies in the opposite orientation with respect to the alpha-globin genes. (ox.ac.uk)
  • identified two human enzymes, SNF2H and SNF2L, that are active in regulating CTCF binding and therefore affect genome organization and transcription of many genes. (wikipedia.org)
  • Normal adult hemoglobin produced after birth (hemoglobin A [HbA]) consists of a heme molecule linked to two α-globin and two β-globin chains (α 2 β 2 ), with α-globin chain production dependent on four genes on chromosome 16, and β-globin chain production arising from two genes on chromosome 11. (medscape.com)
  • At least 50,000 lncRNAs are expressed from intergenic regions of the human genome, more than twice the number of protein-coding genes [ 5 ]. (biomedcentral.com)
  • Mouse α-globin genes, which lack an annotated CGI, exhibit tightly regulated tissue and developmental stage-specific regulation similar to that observed for the human α-globin genes, which contain a CGI and are regulated by PcG [ 9 ]. (biomedcentral.com)
Deletions2
  • I. Cases due to deletions involving chromosome band 16p13.3. (ox.ac.uk)
  • Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)
Mutations3
  • Certain mutations in gene present on chromosome 11 that is responsible for production of beta-globulin chain of heamoglobin results into formation of so-called heamoglobin S. (atomictherapy.org)
  • Sickle cell disease (SCD), the most frequent monogenic disease worldwide, is caused by mutations in the β-globin gene. (haematologica.org)
  • It faces recognized out that the men from 1958 to 1964 said the human' essential mutations' for download GES. (richmondstudio.com)
Band 16p13.31
  • This accounts for the alpha thalassaemia trait in the child and places the human alpha globin complex in band 16p13.3----pter. (ox.ac.uk)
16p13.32
  • Localisation of human alpha globin to 16p13.3----pter. (ox.ac.uk)
  • We have identified the first gene lying on the centromeric side of the alpha-globin gene cluster on human 16p13.3. (ox.ac.uk)
Telomere3
  • The broken chromosome has been stabilised with a newly positioned telomere acquired by recombination between this 16p Alu element and a closely related subtelomeric Alu element of the Sx subfamily. (ox.ac.uk)
  • It seems most likely that this abnormal chromosome has been rescued by the mechanism of telomere capture which may reflect a more general process by which subtelomeric sequences are normally dispersed between chromosomal ends. (ox.ac.uk)
  • Telomeres are protective DNA structures that are located at the end of chromosomes, and proper telomere maintenance is indispensable for chromosomal integrity and overall genomic stability. (oncotarget.com)
Abnormal1
  • A female child with alpha thalassaemia trait, moderate mental retardation, and dysmorphic features has inherited an abnormal chromosome 16 complement as a result of the unbalanced segregation of a maternal balanced translocation. (ox.ac.uk)
Allele1
  • DNA studies show that the patient has not inherited either maternal alpha globin allele. (ox.ac.uk)
Translocation1
  • in at least four cases the deletion results from unbalanced chromosome translocation, and hence aneuploidy of a second chromosome is also present. (ox.ac.uk)
Introns2
  • The CYP1A1 gene is located on 15q22-q24 [ 8 ], contains 7 exons and 6 introns and spans 5810 base pairs. (springeropen.com)
  • energy of PARs( introns) can be located in five molecules( paired in Ketting 2011, Nowotny and Yang 2009, Kim et al. (evakoch.com)
Papillomavirus1
  • It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. (nih.gov)
Mice1
  • The phenotype of Pax6-/- knockout mice suggests non-redundant functions of the transcription factor in the development of glucagon-expressing alpha-cells as this cell type is absent in the mutants. (edu.au)
Polymorphism3
  • Genetic polymorphism in the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q is associated with high fetal hemoglobin levels. (scirp.org)
  • Single nucleotide polymorphisms (SNPs) in the Gγ-globin gene promoter in BCL11A regions and HBS1L-MYB intergenic polymorphism (HMIP) are thought to be associated with Hb F levels. (scirp.org)
  • The CYP1A1 3801T/C (also named MspI polymorphism, *2A or m1), results from a replacement of thymine by a cytosine at the 3801st base pair in the 3' flanking region of the gene [ 9 , 10 ]. (springeropen.com)
Chromosomal1
  • RUNX1/AML1/CBFA2 is essential for definitive hematopoiesis, and chromosomal translocations affecting RUNX1 are frequently involved in human leukemias. (biologists.com)
Genetic1
  • Sickle cell disease is an inherited genetic disorder, resulting from homozygous and compound heterozygote mutation in the β globin gene as a single base-pair point mutation (GAG to GTG) results in the substitution of glutamic acid (hydrophilic) to Valine (hydrophobic) in the 6th position of the β-chain of hemoglobin resulting in hemoglobin S formation [7]. (scirp.org)
Gene cluster1
Hemoglobin2
  • Interestingly, the globins from the lamprey, sea hare and the legumes are as distant from one another as are α-hemoglobin and β-hemoglobin from myoglobin. (pharmaceuticalintelligence.com)
  • Fetal hemoglobin is a form of hemoglobin that all humans produce before birth, but most stop producing it after birth. (yourdictionary.com)
Genomic3
  • During this time, he developed the methods that led to the determination of the first high-resolution model of a human genomic region, the alpha-globin genomic domain, and of the first three-dimensional model of an entire bacterial genome, the Caulobacter Crescentus. (multiscalegenomics.eu)
  • Here, we used ChIP followed by high-throughput sequencing (ChIP-seq) to analyse genomic occupancy of CFP1 in two human haematopoietic cell types. (biomedcentral.com)
  • Genomic datasets include thousands of markers that are located on the same chromosome and are in population linkage disequilibrium which violate this assumption. (nfshost.com)
Disorders1
  • Sickle cell disease ( SCD ) is considered as one of the commonest gene disorders of human beings. (scirp.org)
Regulatory3
  • Changes in NME4 expression are mediated by physical cis-interactions between this gene and the alpha-globin regulatory elements. (ox.ac.uk)
  • To examine the role of the 16pHQG;16 gene in delimiting the extent of the alpha-globin regulatory domain, we mapped its mouse orthologue, which we found to lie on mouse chromosome 17, separated from the mouse alpha-cluster on chromosome 11. (ox.ac.uk)
  • We have characterised a subtelomeric rearrangement involving the short arm of chromosome 16 that gives rise to alpha-thalassaemia by deleting the major, remote regulatory element controlling alpha-globin expression. (ox.ac.uk)
Wrapped in 1.67 left-handed2
  • Each nucleosome consists of 8 histone protein subunits, around which roughly 147 DNA base pairs are wrapped in 1.67 left-handed turns. (wikipedia.org)
  • The nucleosome core particle consists of approximately 147 [5] base pairs of DNA wrapped in 1.67 left-handed superhelical turns around a histone octamer consisting of 2 copies each of the core histones H2A , H2B , H3 , and H4 . (wikidoc.org)
Adult1
  • In Normal adult humans the RBC are bi-concave dics shaped and predominantly has Heamoglobin-A. (atomictherapy.org)
Evolution1
  • Accelerated rates of globin evolution were found in lineages of cold-blooded vertebrates, some marsupials, and early placental mammals, while slower rates were found in warm-blooded vertebrates, especially higher primates. (pharmaceuticalintelligence.com)
Regions4
  • Moreover, entire chromosomes segregate into distinct regions called chromosome territories. (wikipedia.org)
  • The organization of chromosomes into distinct regions within the nucleus was first proposed in 1885 by Carl Rabl. (wikipedia.org)
  • Later in 1909, with the help of the microscopy technology at the time, Theodor Boveri coined the termed chromosome territories after observing that chromosomes occupy individually distinct nuclear regions. (wikipedia.org)
  • Additionally, high-throughput sequencing technologies such as Chromosome Conformation Capture-based methods can measure how often DNA regions are in close proximity. (wikipedia.org)
Thalassaemia4
  • Alpha thalassaemia in tribal communities of coastal Maharashtra, India. (medscape.com)
  • Alpha(+)-thalassaemia and malarial anaemia. (medscape.com)
  • A reverse dot-blot method for rapid detection of non-deletion alpha thalassaemia. (medscape.com)
  • Haas PS, Roy NB, Gibbons RJ, Deville MA, Fisher C, Schwabe M. The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS). (medscape.com)
Histone1
  • The core histone proteins contain a characteristic structural motif termed the "histone fold" which consists of three alpha-helices (α1-3) separated by two loops (L1-2). (wikidoc.org)
Genome architecture1
  • He is currently involved in different collaborations that aim at determining the genome architecture of several organisms including Human, Yeast, Mycoplasma Pneumoniae, Fly and Mouse.moved to the University College Dublin, where, in 2008, he got his PhD at the School of Computer Science and Informatics under the supervision of Dr. Gianluca Pollastri. (multiscalegenomics.eu)
Dependent1
  • The human fetus is dependent upon endocrine development for hormones, which support normal development. (edu.au)
Sequences1
  • It is well established that all of the cis-acting sequences required for fully regulated human alpha-globin expression are contained within a region of approximately 120 kb of conserved synteny. (ox.ac.uk)
Protein2
  • His thesis focused on the development of an optimization algorithm that searched the space of protein C-alpha trace configurations under the guidance of a statistical potential based on features predicted by machine learning techniques. (multiscalegenomics.eu)
  • The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. (nih.gov)
Domain2
  • LUC7L) defining the centromeric boundary of the human alpha-globin domain. (ox.ac.uk)
  • It has two DNA binding domains, the paired domain and the homeodomain, in addition to a C-terminal transactivation domain. (edu.au)
Type1
  • One manifestation of negative selection in the globins is that minimal 3-base type amino acid replacements occur less frequently than would be expected if base replacements had occurred and were accepted at random. (pharmaceuticalintelligence.com)
Expression1
  • Aberrant GLYAT expression is associated with human cancers, yet its role in cancer remains unknown. (sdbonline.org)
Determine1
Cell2
Analysis2
  • If a strong suspicion exists and if a definitive answer is required, polymerase chain reaction (PCR) evaluation should be performed for globin-chain analysis. (medscape.com)
  • This popular 4-day hands-on course on 3C-based data analysis and chromosome structure determination is jumping across scales and resolutions in this year's edition with the support of the MuG project. (multiscalegenomics.eu)
Control1
  • ADS wherein showed Business Network satellite for last single-copy computing billioneuros, is that by bending a formula in the semi-arid miles of products in control which inevitable interactions are each Death on availability forecasts and origins, his globin is to develop in rotations of thanks. (oldandelegant.com)
Base1
  • DNA footprinting utilizes a DNA damaging agent (either a chemical reagent or a nuclease) which cleaves DNA at every base pair. (lookformedical.com)
True2
Plant1