Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.

Abstract:

:The molecular basis of most beta-thalassemia syndromes has been defined, while the spectrum of mutations causing delta-thalassemia is not well characterized. In an attempt to identify such mutations, the region encompassing the delta-globin gene from three Greek Cypriot families suspected of having delta-thalassemia was amplified by polymerase chain reaction (PCR), and DNA sequence determined using an automated fluorescence-based sequencer. Four novel mutations were identified: a G----T change at codon 27 that results in an alanine to serine change; a C----T change at codon 116 converting arginine to cysteine; a T----C change at codon 141 converting leucine to proline; and an AG----GG change at the consensus 3'-acceptor site in IVS-2. While the latter is clearly a thalassemic mutation, the low hemoglobin A2 in the first three may be due to either decreased production or instability of the altered delta-globin chain. All four mutations may be detected by PCR amplification of genomic DNA followed by restriction enzyme digestion. Two mutations abolish restriction sites while two create new cleavage sites. Screening for molecular defects that cause delta-thalassemia or unstable delta-globin by PCR amplification and restriction enzyme digestion will lead to correct diagnosis of beta/delta-thalassemia compound heterozygotes and improved genetic counseling.

journal_name

Blood

journal_title

Blood

authors

Trifillis P,Ioannou P,Schwartz E,Surrey S

subject

Has Abstract

pub_date

1991-12-15 00:00:00

pages

3298-305

issue

12

eissn

0006-4971

issn

1528-0020

journal_volume

78

pub_type

杂志文章

相关文献

BLOOD文献大全
  • Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.

    abstract::Myelodysplastic syndromes (MDSs) are chronic and often progressive myeloid neoplasms associated with remarkable heterogeneity in the histomorphology and clinical course. Various somatic mutations are involved in the pathogenesis of MDS. Recently, mutations in a gene encoding a spliceosomal protein, SF3B1, were discove...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2011-12-399774

    authors: Makishima H,Visconte V,Sakaguchi H,Jankowska AM,Abu Kar S,Jerez A,Przychodzen B,Bupathi M,Guinta K,Afable MG,Sekeres MA,Padgett RA,Tiu RV,Maciejewski JP

    更新日期:2012-04-05 00:00:00

  • How to generate large numbers of CD103+ dendritic cells.

    abstract::In this issue of Blood, Mayer et al describe a new method of generating high numbers of Batf3- and Irf8-dependent CD103+ conventional dendritic cells (cDCs), providing new opportunities to study this subset of antigen-presenting cells specialized in crosspresentation. ...

    journal_title:Blood

    pub_type: 评论,杂志文章

    doi:10.1182/blood-2014-08-595298

    authors: van de Laar L,Lambrecht BN

    更新日期:2014-11-13 00:00:00

  • Polyphosphate colocalizes with factor XII on platelet-bound fibrin and augments its plasminogen activator activity.

    abstract::Activated factor XII (FXIIa) has plasminogen activator capacity but its relative contribution to fibrinolysis is considered marginal compared with urokinase and tissue plasminogen activator. Polyphosphate (polyP) is released from activated platelets and mediates FXII activation. Here, we investigate the contribution o...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2015-10-673285

    authors: Mitchell JL,Lionikiene AS,Georgiev G,Klemmer A,Brain C,Kim PY,Mutch NJ

    更新日期:2016-12-15 00:00:00

  • An insertional mutagenesis screen identifies genes that cooperate with Mll-AF9 in a murine leukemogenesis model.

    abstract::Patients with a t(9;11) translocation (MLL-AF9) develop acute myeloid leukemia (AML), and while in mice the expression of this fusion oncogene also results in the development of myeloid leukemia, it is with long latency. To identify mutations that cooperate with Mll-AF9, we infected neonatal wild-type (WT) or Mll-AF9 ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-04-281428

    authors: Bergerson RJ,Collier LS,Sarver AL,Been RA,Lugthart S,Diers MD,Zuber J,Rappaport AR,Nixon MJ,Silverstein KA,Fan D,Lamblin AF,Wolff L,Kersey JH,Delwel R,Lowe SW,O'Sullivan MG,Kogan SC,Adams DJ,Largaespada DA

    更新日期:2012-05-10 00:00:00

  • Circulating thrombopoietin as an in vivo growth factor for blast cells in acute myeloid leukemia.

    abstract::Thrombopoietin (TPO), the major growth factor for cells of the megakaryocytic lineage, is removed from circulation by binding to c-mpl receptors present on platelets and megakaryocytes. We studied patients with acute lymphoblastic leukemia (ALL) or acute myeloblastic leukemia (AML) and used TPO-induced c-fos protein u...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2005-06-2552

    authors: Corazza F,Hermans C,D'Hondt S,Ferster A,Kentos A,Benoît Y,Sariban E

    更新日期:2006-03-15 00:00:00

  • Coinfection of multiple strains of Epstein-Barr virus in immunocompetent normal individuals: reassessment of the viral carrier state.

    abstract::This study reassesses the occurrence of Epstein-Barr virus (EBV) diversity and coinfection versus dominance of a single viral strain within immunocompetent normal carriers. Polymerase chain reaction analysis of several different polymorphic loci of the EBV genome was performed on collections of peripheral blood mononu...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Srivastava G,Wong KY,Chiang AK,Lam KY,Tao Q

    更新日期:2000-04-01 00:00:00

  • Functional characterization of L-selectin ligands on human neutrophils and leukemia cell lines: evidence for mucinlike ligand activity distinct from P-selectin glycoprotein ligand-1.

    abstract::Recent reports have shown that leukocyte-leukocyte adhesion is dependent on L-selectin and that leukocyte recognition of L-selectin may be mediated by P-selectin glycoprotein ligand-1 (PSGL-1). We show that the specific attachment and rolling of human neutrophils and the leukemia cell lines HL-60 and U937 on immobiliz...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Ramos CL,Smith MJ,Snapp KR,Kansas GS,Stickney GW,Ley K,Lawrence MB

    更新日期:1998-02-01 00:00:00

  • The role of endothelial PI3Kgamma activity in neutrophil trafficking.

    abstract::Phosphoinositide 3-kinase gamma (PI3Kgamma) in neutrophils plays a critical role in the directed migration of these cells into inflamed tissues. In this study, we demonstrate the importance of the endothelial component of PI3Kgamma activity relative to its leukocyte counterpart in supporting neutrophil interactions wi...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2005-01-0023

    authors: Puri KD,Doggett TA,Huang CY,Douangpanya J,Hayflick JS,Turner M,Penninger J,Diacovo TG

    更新日期:2005-07-01 00:00:00

  • Combination of HOXB4 and Delta-1 ligand improves expansion of cord blood cells.

    abstract::Umbilical cord blood (UCB) is an attractive cell source for hematopoietic cell transplantation (HCT). Here we examine whether the combination of homeobox B4 (HOXB4) and Delta-1 ligand (DL) synergize when used together. Monkey and human UCB CD34(+) cells were transduced with a HOXB4-expressing gammaretroviral vector an...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-05-286062

    authors: Watts KL,Delaney C,Humphries RK,Bernstein ID,Kiem HP

    更新日期:2010-12-23 00:00:00

  • Haplo-BMT: which approach?

    abstract::In patients with hematologic malignancies, Di Bartolomeo et al report encouraging outcomes after transplantation of granulocyte-colony stimulating factor (G-CSF)– primed unmanipulated bone marrow from human leukocyte antigen (HLA)– haplotype mismatched (haploidentical) related donors, suggesting that this procedure ma...

    journal_title:Blood

    pub_type: 评论,杂志文章

    doi:10.1182/blood-2012-12-469981

    authors: Velardi A

    更新日期:2013-01-31 00:00:00

  • Anticonvulsant-induced aplastic anemia: increased susceptibility to toxic drug metabolites in vitro.

    abstract::A 53-yr-old man sequentially developed aplastic anemia from phenytoin and carbamazepine. Both compounds undergo metabolism to potentially toxic arene oxide intermediates. We tested the hypothesis that the patient's adverse reactions were due to a defect in detoxification of such metabolites by challenging his peripher...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Gerson WT,Fine DG,Spielberg SP,Sensenbrenner LL

    更新日期:1983-05-01 00:00:00

  • Randomized comparison of double induction and timed-sequential induction to a "3 + 7" induction in adults with AML: long-term analysis of the Acute Leukemia French Association (ALFA) 9000 study.

    abstract::Between 1990 and 1996, we conducted a randomized trial in adults with newly diagnosed acute myeloid leukemia (AML) in order to compare relapse-free interval (RFI) after double induction (arm B), timed-sequential induction (arm C), or control "3 + 7" induction (arm A). Patients achieving complete remission (CR) after i...

    journal_title:Blood

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1182/blood-2003-10-3561

    authors: Castaigne S,Chevret S,Archimbaud E,Fenaux P,Bordessoule D,Tilly H,de Revel T,Simon M,Dupriez B,Renoux M,Janvier M,Micléa JM,Thomas X,Bastard C,Preudhomme C,Bauters F,Degos L,Dombret H

    更新日期:2004-10-15 00:00:00

  • Modulation of erythrocyte potassium chloride cotransport, potassium content, and density by dietary magnesium intake in transgenic SAD mouse.

    abstract::Prevention of erythrocyte dehydration is a potential therapeutic strategy for sickle cell disease. Increasing erythrocyte magnesium (Mg) could inhibit sickle cell dehydration by increasing chloride (CI) and water content and by inhibiting potassium chloride (K-CI) cotransport. In transgenic SAD 1 and (control) C57BL/6...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: De Franceschi L,Beuzard Y,Jouault H,Brugnara C

    更新日期:1996-10-01 00:00:00

  • Prognostic factors in a multicenter study for treatment of acute lymphoblastic leukemia in adults.

    abstract::In a prospective multicenter study, 368 acute lymphoblastic leukemia (ALL) patients aged 15 to 65 years were treated with an intensified induction and reinduction regimen; 272 (73.9%) achieved complete remission (CR). The median remission duration (MRD) is 24.3 months, and the probability of being in continuous CR (CC...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Hoelzer D,Thiel E,Löffler H,Büchner T,Ganser A,Heil G,Koch P,Freund M,Diedrich H,Rühl H

    更新日期:1988-01-01 00:00:00

  • Improved cellular and humoral immune responses in vivo following targeting of HIV Gag to dendritic cells within human anti-human DEC205 monoclonal antibody.

    abstract::Protein vaccines for T-cell immunity are not being prioritized because of poor immunogenicity. To overcome this hurdle, proteins are being targeted to maturing dendritic cells (DCs) within monoclonal antibodies (mAbs) to DC receptors. To extend the concept to humans, we immunized human immunoglobulin-expressing mice w...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-06-288068

    authors: Cheong C,Choi JH,Vitale L,He LZ,Trumpfheller C,Bozzacco L,Do Y,Nchinda G,Park SH,Dandamudi DB,Shrestha E,Pack M,Lee HW,Keler T,Steinman RM,Park CG

    更新日期:2010-11-11 00:00:00

  • HIV-1 reprograms the migration of macrophages.

    abstract::Macrophages are motile leukocytes, targeted by HIV-1, thought to play a critical role in host dissemination of the virus. However, whether infection impacts their migration capacity remains unknown. We show that 2-dimensional migration and the 3-dimensional (3D) amoeboid migration mode of HIV-1-infected human monocyte...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2014-08-596775

    authors: Vérollet C,Souriant S,Bonnaud E,Jolicoeur P,Raynaud-Messina B,Kinnaer C,Fourquaux I,Imle A,Benichou S,Fackler OT,Poincloux R,Maridonneau-Parini I

    更新日期:2015-03-05 00:00:00

  • Human myeloperoxidase gene expression in acute leukemia.

    abstract::To evaluate the relationship between myeloperoxidase (MPO) gene expression and specific lineages of hematopoietic differentiation, we analyzed expression of the MPO gene in a variety of normal and leukemic human cells. As a first step, we synthesized several oligonucleotide probes and isolated cDNA clones for the MPO ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Zaki SR,Austin GE,Swan D,Srinivasan A,Ragab AH,Chan WC

    更新日期:1989-11-01 00:00:00

  • Eosinophils contribute to innate antiviral immunity and promote clearance of respiratory syncytial virus.

    abstract::Eosinophils are recruited to the lungs in response to respiratory syncytial virus (RSV) infection; however, their role in promoting antiviral host defense remains unclear. Here, we demonstrate that eosinophils express TLRs that recognize viral nucleic acids, are activated and degranulate after single-stranded RNA (ssR...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2007-01-071340

    authors: Phipps S,Lam CE,Mahalingam S,Newhouse M,Ramirez R,Rosenberg HF,Foster PS,Matthaei KI

    更新日期:2007-09-01 00:00:00

  • Simultaneous activation of multiple signal transduction pathways confers poor prognosis in acute myelogenous leukemia.

    abstract::Deregulation of signal transduction pathways (STPs) may promote leukemogenesis by conferring cell proliferation and survival advantages in acute myelogenous leukemia (AML). Several agents targeting STPs are under development; however, redundancy and cross-talk between STPs could activate multiple downstream effectors ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2006-02-003475

    authors: Kornblau SM,Womble M,Qiu YH,Jackson CE,Chen W,Konopleva M,Estey EH,Andreeff M

    更新日期:2006-10-01 00:00:00

  • DDAVP in type IIa von Willebrand's disease.

    abstract::1-D-Amino(8-D-arginine)-vasopressin (DDAVP) infusion in three patients with type IIa von Willebrand's disease (vWD) resulted in a normalization of the factor VIII coagulant, factor VIII-related antigen, and von Willebrand factor (vWF) (ristocetin cofactor) activities and the bleeding time. The normalization of these h...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Gralnick HR,Williams SB,McKeown LP,Rick ME,Maisonneuve P,Jenneau C,Sultan Y

    更新日期:1986-02-01 00:00:00

  • Use of alpha interferon for the treatment of relapse of chronic myelogenous leukemia in chronic phase after allogeneic bone marrow transplantation.

    abstract::Eighteen patients with relapse of chronic myelogenous leukemia (CML) after allogeneic bone marrow transplantation (BMT) were treated with recombinant human alpha 2a interferon (IFN). Relapse was defined as greater than 90% metaphases containing the Philadelphia chromosome (Ph) and hematologic abnormalities consistent ...

    journal_title:Blood

    pub_type: 临床试验,杂志文章

    doi:

    authors: Higano CS,Raskind WH,Singer JW

    更新日期:1992-09-15 00:00:00

  • Endothelial induction of the T-cell chemokine CCL21 in T-cell autoimmune diseases.

    abstract::The signals that mediate T-cell infiltration during T-cell autoimmune diseases are poorly understood. The chemokine CCL21 (originally isolated by us and others as Exodus-2/6Ckine/SLC/TCA4) is highly potent and highly specific for stimulating T-cell migration. However, it is thought to be expressed only in secondary ly...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2002-05-1586

    authors: Christopherson KW 2nd,Hood AF,Travers JB,Ramsey H,Hromas RA

    更新日期:2003-02-01 00:00:00

  • Fetal liver myelopoiesis occurs through distinct, prospectively isolatable progenitor subsets.

    abstract::Hematopoietic fate maps in the developing mouse embryo remain imprecise. Definitive, adult-type hematopoiesis first appears in the fetal liver, then progresses to the spleen and bone marrow. Clonogenic common lymphoid progenitors and clonogenic common myeloid progenitors (CMPs) in adult mouse bone marrow that give ris...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v98.3.627

    authors: Traver D,Miyamoto T,Christensen J,Iwasaki-Arai J,Akashi K,Weissman IL

    更新日期:2001-08-01 00:00:00

  • A unique 7p/12q chromosomal abnormality associated with recurrent abortion and hypofibrinogenemia.

    abstract::Recurrent first trimester abortions led to evaluation of a 25-year-old woman. Studies revealed she had hypofibrinogenemia (68 mg/dL) without evidence of dysfibrinogenemia or increased fibrinogen turnover. She was also found to have a unique 46,XX, t(7;12) (p 15.2;q24.31) karyotype. Hypofibrinogenemia and identical chr...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Kitchens CS,Cruz AC,Kant JA

    更新日期:1987-10-01 00:00:00

  • CD4(+), CD56(+) DC2 acute leukemia is characterized by recurrent clonal chromosomal changes affecting 6 major targets: a study of 21 cases by the Groupe Français de Cytogénétique Hématologique.

    abstract::CD4(+), CD56(+) DC2 malignancies constitute a novel disease entity, which has recently been shown to arise from a transformed lymphoid-related plasmacytoid dendritic cell (DC2). Diagnosis is primarily based on a particular immunophenotype with tumor cells expressing CD4 and CD56 antigens in the absence of common lymph...

    journal_title:Blood

    pub_type: 杂志文章,多中心研究

    doi:10.1182/blood.v99.11.4154

    authors: Leroux D,Mugneret F,Callanan M,Radford-Weiss I,Dastugue N,Feuillard J,Le Mée F,Plessis G,Talmant P,Gachard N,Uettwiller F,Pages MP,Mozziconacci MJ,Eclache V,Sibille C,Avet-Loiseau H,Lafage-Pochitaloff M

    更新日期:2002-06-01 00:00:00

  • VH4-34+ hairy cell leukemia, a new variant with poor prognosis despite standard therapy.

    abstract::Hairy cell leukemia variant (HCLv) presents with high disease burden, lack of typical antigens like CD25, and poor response to standard treatments like cladribine. Occasionally, patients with classic HCL respond poorly. Clinical and molecular features of HCL and HCLv has not been compared. Rearrangements expressing im...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2009-01-201731

    authors: Arons E,Suntum T,Stetler-Stevenson M,Kreitman RJ

    更新日期:2009-11-19 00:00:00

  • B7-H3 expression in donor T cells and host cells negatively regulates acute graft-versus-host disease lethality.

    abstract::Members of the B7 family have been shown to be important for regulating immune responses by providing either positive or negative costimulatory signals. The function of B7-H3 has been controversial. We show that B7-H3 is upregulated in graft-versus-host disease (GVHD) target organs, including the colon, liver, and lun...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2014-09-603357

    authors: Veenstra RG,Flynn R,Kreymborg K,McDonald-Hyman C,Saha A,Taylor PA,Osborn MJ,Panoskaltsis-Mortari A,Schmitt-Graeff A,Lieberknecht E,Murphy WJ,Serody JS,Munn DH,Freeman GJ,Allison JP,Mak TW,van den Brink M,Zeiser R,Blaz

    更新日期:2015-05-21 00:00:00

  • Marrow harvesting from normal donors.

    abstract::The experience at a single institution in harvesting marrow for allogeneic transplantation on 1,270 occasions from 1,160 normal donors is presented in detail, together with an analysis of all the donor complications. Four donors were less than 2 years old, and the youngest was 6 1/2 months. No special difficulties wer...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Buckner CD,Clift RA,Sanders JE,Stewart P,Bensinger WI,Doney KC,Sullivan KM,Witherspoon RP,Deeg HJ,Appelbaum FR

    更新日期:1984-09-01 00:00:00

  • CML patients with deep molecular responses to TKI have restored immune effectors and decreased PD-1 and immune suppressors.

    abstract::Immunological control may contribute to achievement of deep molecular response in chronic myeloid leukemia (CML) patients on tyrosine kinase inhibitor (TKI) therapy and may promote treatment-free remission (TFR). We investigated effector and suppressor immune responses in CML patients at diagnosis (n = 21), on TKI (im...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2016-10-745992

    authors: Hughes A,Clarson J,Tang C,Vidovic L,White DL,Hughes TP,Yong AS

    更新日期:2017-03-02 00:00:00

  • Fibrinogen Mitaka II: a hereditary dysfibrinogen with defective thrombin binding caused by an A alpha Glu-11 to Gly substitution.

    abstract::A new type of A alpha Glu-11 to Gly substitution has been identified in a congenitally abnormal fibrinogen, fibrinogen Mitaka II, derived from a 14-year-old female suffering from easy bruising since childhood. Plasma of the patient and fibrinogen purified therefrom were found to clot slowly by thrombin but in a normal...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Niwa K,Yaginuma A,Nakanishi M,Wada Y,Sugo T,Asakura S,Watanabe N,Matsuda M

    更新日期:1993-12-15 00:00:00