Genetic mapping of the hemochromatosis locus on chromosome six.

Abstract:

:The purpose of this paper is to report a pedigree with hereditary hemochromatosis in which a recombination between the HLA-A and B loci occurred. Both the maternal and paternal HLA-A3, B7 haplotypes were carrying an allele for hemochromatosis. The A3, B12 haplotype of the proband was a recombinant of the maternal A3, B7 and A28, B12 haplotypes. The hemochromatosis locus segregated with the HLA-A locus and not with the HLA-B locus. Thus, the hemochromatosis locus maps in close proximity to the HLA-A locus.

journal_name

Hum Immunol

journal_title

Human immunology

authors

Edwards CQ,Cartwright GE,Skolnick MH,Amos DB

doi

10.1016/0198-8859(80)90005-1

subject

Has Abstract

pub_date

1980-07-01 00:00:00

pages

19-22

issue

1

eissn

0198-8859

issn

1879-1166

pii

0198-8859(80)90005-1

journal_volume

1

pub_type

杂志文章
  • Interferon-gamma response region in the promoter of the class II MHC gene, DPA.

    abstract::The class II MHC gene DPA is inducible by interferon-gamma (IFN-gamma), whereas the DQB gene is not inducible in most cell types. To investigate the DNA region specifically responsible for inducibility or its lack that may be required (in addition to the elements required for constitutive expression of class II genes)...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/0198-8859(92)90100-2

    authors: Sugawara M,Ponath PD,Yang Z,Strominger JL

    更新日期:1992-11-01 00:00:00

  • Orientation of HLA-DNA gene and identification of a CpG island-associated gene adjacent to DNA in human major histocompatibility complex class II region.

    abstract::We have constructed the detailed physical map of the HLA class II gene region by the pulsed field gel electrophoresis (PFGE) and cosmid walking technique. In this process, the DNA gene was found to be located telomeric to DPA1 with the 5'----3' orientation which is the same as the DPA1 and DPA2 genes, but opposite to ...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/0198-8859(91)90059-i

    authors: Okamoto N,Ando A,Kawai J,Yoshiwara T,Tsuji K,Inoko H

    更新日期:1991-11-01 00:00:00

  • MICA A8: a new allele within MHC class I chain-related A transmembrane region with eight GCT repeats.

    abstract::Analysis of the MICA gene revealed a trinucleotide repeat (GCT) microsatellite polymorphism within the transmembrane region. So far, seven alleles of the exon 5 of the MICA gene, which consist of 4, 5, 6, 7, 9, and 10 repetitions of GCT or five repetitions of GCT with an additional nucleotide insertion (GGCT), have be...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2006.10.007

    authors: Gambelunghe G,Brozzetti AL,Ghaderi M,Tortoioli C,Falorni A

    更新日期:2006-12-01 00:00:00

  • CD8+ suppressor T cells resurrected.

    abstract::This review focuses on the role of antigen-specific T cells that mediate active inhibition of immune responses over the past 35 years since their initial description. The field has experienced several changes in the accepted paradigm of such suppressor/regulatory T cells, from initial indications that such cells were ...

    journal_title:Human immunology

    pub_type: 杂志文章,评审

    doi:10.1016/j.humimm.2008.07.018

    authors: Kapp JA,Bucy RP

    更新日期:2008-11-01 00:00:00

  • Severe pulmonary sarcoidosis is strongly associated with the haplotype HLA-DQB1*0602-DRB1*150101.

    abstract::Sarcoidosis is a multiorgan granulomatous disease of unknown etiology. Several lines of evidence suggest a genetic predisposition and associations have been demonstrated with HLA antigens. HLA-DQB1 has been proposed as one of the candidate genes. To investigate the relationship between DQB1 and sarcoidosis at the alle...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2005.04.003

    authors: Voorter CE,Drent M,van den Berg-Loonen EM

    更新日期:2005-07-01 00:00:00

  • Tumor necrosis factor-alpha promoter polymorphisms in Mexican patients with spondyloarthritis.

    abstract::To evaluate the role of tumor necrosis factor-alpha (TNF-alpha) gene as susceptibility marker for spondyloarthritis (SpA), two polymorphisms (-238 and -308 positions) were analyzed in 229 patients with SpA (113 with ankylosing spondylitis [AS], 92 with undifferentiated SpA [U-SpA], 24 with reactive arthritis), and 169...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2006.07.009

    authors: Vargas-Alarcón G,Casasola-Vargas J,Rodríguez-Pérez JM,Huerta-Sil G,Pérez-Hernández N,Londoño J,Pacheco-Tena C,Cardiel MH,Granados J,Burgos-Vargas R

    更新日期:2006-10-01 00:00:00

  • Next Generation Sequencing in HLA haplotype distribution among Telugu speaking population from Andhra Pradesh, India.

    abstract:HLA A:B:C:DRB1:DQB1 allele and haplotype frequencies were determined among India, Andhra Pradesh, Telugu speaking population from South India by Next Generation Sequencing. 180 bone marrow registry donors and 6 cord blood units from Jeevan Stem Cell Foundation (part of Be The Cure Registry), Chennai, Tamilnadu state we...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2018.05.005

    authors: Seshasubramanian V,Manisekar NK,Sathishkannan AD,Naganathan C,Narayan S

    更新日期:2018-08-01 00:00:00

  • Elevated serum BAFF levels in patients with autoimmune hepatitis.

    abstract::Serum cytokines are thought to be involved in autoimmune hepatitis (AIH) pathogenesis via immune dysregulation. B-cell activating factor belonging to the tumor necrosis factor family (BAFF) is a member of the tumor necrosis factor (TNF) superfamily and is known for its role in the survival and maturation of B cells. T...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2007.03.010

    authors: Migita K,Abiru S,Maeda Y,Nakamura M,Komori A,Ito M,Fujiwara S,Yano K,Yatsuhashi H,Eguchi K,Ishibashi H

    更新日期:2007-07-01 00:00:00

  • The role of CD8 suppressors versus destructors in autoimmune central nervous system inflammation.

    abstract::Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS) of putative autoimmune origin. Recent evidence indicates that MS autoimmunity is linked to defects in regulatory T-cell function, which normally regulates immune responses to self-antigens and prevents autoimmune disea...

    journal_title:Human immunology

    pub_type: 杂志文章,评审

    doi:10.1016/j.humimm.2008.07.014

    authors: Zozulya AL,Wiendl H

    更新日期:2008-11-01 00:00:00

  • Two distinct forms of soluble MHC class I molecules synthesized by different mechanisms in normal rat cells in vitro.

    abstract::Rat soluble MHC class I synthesis was studied at both RNA and protein levels to determine whether multiple forms of soluble MHC class I molecules are produced by different mechanisms. RT-PCR and sequencing of MHC class I transcripts identified an alternatively spliced nonclassical MHC class I gene product, lacking bot...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/s0198-8859(98)00039-1

    authors: Zhai Y,Knechtle S

    更新日期:1998-07-01 00:00:00

  • Cytomegalovirus infection after bone marrow transplantation in children.

    abstract::Cytomegalovirus (CMV) is a well-known cause of disease occurring after bone marrow transplantation (BMT). The manifestations of CMV range from asymptomatic infection, defined as active CMV replication in the blood in the absence of clinical manifestations or organ failure abnormalities, to CMV disease, characterized b...

    journal_title:Human immunology

    pub_type: 杂志文章,评审

    doi:10.1016/j.humimm.2004.02.013

    authors: Castagnola E,Cappelli B,Erba D,Rabagliati A,Lanino E,Dini G

    更新日期:2004-05-01 00:00:00

  • Association between the CTLA-4, CD226, FAS polymorphisms and rheumatoid arthritis susceptibility: a meta-analysis.

    abstract:OBJECTIVE:We explored whether cytotoxic T lymphocyte antigen-4 (CTLA-4) rs5742909, CD226 rs763361, FAS rs1800682, and FASL rs763110 polymorphisms are associated with rheumatoid arthritis (RA). METHODS:We performed a meta-analysis on the association between the four gene polymorphisms and RA. RESULTS:Nineteen studies ...

    journal_title:Human immunology

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.humimm.2015.01.023

    authors: Lee YH,Bae SC,Song GG

    更新日期:2015-03-01 00:00:00

  • Antigen, allele, and haplotype frequencies report of the ASHI minority antigens workshops: part 1, African-Americans.

    abstract::HLA typing was performed on 977 African Americans residing throughout most of the United States. Class I and class II antigens and class II alleles were defined for all individuals and class I alleles were determined for a subset of individuals. The occurrence of 854 of the individuals in family groups permitted direc...

    journal_title:Human immunology

    pub_type: 多中心研究

    doi:10.1016/s0198-8859(01)00305-6

    authors: Zachary AA,Bias WB,Johnson A,Rose SM,Leffell MS

    更新日期:2001-10-01 00:00:00

  • CTLA-4 polymorphisms and susceptibility to inflammatory bowel disease: a meta-analysis.

    abstract:OBJECTIVE:The aim of this study was to explore whether the cytotoxic T lymphocyte associated antigen-4 (CTLA-4) polymorphisms are associated with susceptibility to ulcerative colitis (UC) and Crohn's disease (CD). METHODS:The authors conducted a meta-analysis on associations between CTLA-4 +49 A/G, -318 C/T, CT60 A/G ...

    journal_title:Human immunology

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.humimm.2014.02.020

    authors: Lee YH,Kim JH,Seo YH,Choi SJ,Ji JD,Song GG

    更新日期:2014-05-01 00:00:00

  • Positivity in a modified mixed leukocyte reaction test correlates with molecular HLA-C disparity in prediction of unrelated bone marrow transplantation outcome.

    abstract::The modified mixed leukocyte reaction (MMLR) test consists of the standard MLR (SMLR) test to which interleukin-4 (IL-4) has been added. It is a sensitive procedure capable of detecting alloreactivity not detected by the SMLR. In the present study we applied the MMLR test to unrelated bone marrow transplantation (BMT)...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/s0198-8859(99)00065-8

    authors: Bishara A,Brautbar C,Cohen I,Nagler A

    更新日期:1999-09-01 00:00:00

  • β-1,4-galactosyltransferase-I activates proliferation and participates in intercellular contacts of lymphocytes.

    abstract::Beta-1,4-galactosyltransferase I (β-1,4-GalT-I) mediates several biological mechanisms as a key enzyme in glycobiology, but the role of β-1,4-GalT-I in immune system remains unclear. We conducted experiments to investigate whether β-1,4-GalT-I is participating in the activation of Jurkat T cell and intercellular conta...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2014.08.199

    authors: Sun X,Wu Y,Wang Y,Xue Q,Cheng X,Zhang G,Zhu Y,Wang X

    更新日期:2014-10-01 00:00:00

  • Different regions of the N-terminal domains of HLA-DR1 influence recognition of individual peptide-DR1 complexes.

    abstract::The contributions of individual amino acids in the polymorphic beta chain and the conserved alpha chain of HLA-DR1 to influenza HA-specific DR1-restricted and anti-DR1 allospecific T-cell recognition were analyzed. The genes encoding HLA-DR1 were subjected to site-directed mutagenesis in order to introduce single amin...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/0198-8859(94)90031-0

    authors: Tuosto L,Karr RW,Fu XT,Olson RR,Cundari E,Piccolella E,Lechler R,Lombardi G

    更新日期:1994-08-01 00:00:00

  • Interleukin 6 -174G>C polymorphism and cancer risk: meta-analysis reveals a site dependent differential influence in Ancestral North Indians.

    abstract::In our earlier studies, single nucleotide polymorphisms (SNPs) associated with anti-inflammatory cytokines were found to influence risk for breast cancer in western Indian women. Analysis of Interleukin 6 (IL-6) -174G>C polymorphism in this cohort (patients = 182; controls = 236) suggested a protective role for IL-6 -...

    journal_title:Human immunology

    pub_type: 杂志文章,meta分析,评审

    doi:10.1016/j.humimm.2014.06.018

    authors: Joshi N,Kannan S,Kotian N,Bhat S,Kale M,Hake S

    更新日期:2014-08-01 00:00:00

  • Natural killer cells in patients with polycythemia vera.

    abstract::Natural killer cells (NK) are pivotal cells of innate immunity. They are potent antileukemic cytotoxic effectors. A defect in their cytotoxicity has been described in some hematopoietic malignancies such as acute myeloid leukemia, multiple myeloma and myelodysplastic syndromes. This defect is at least partially linked...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2015.09.010

    authors: Sanchez C,Baier C,Colle JG,Chelbi R,Rihet P,Le Treut T,Imbert J,Sébahoun G,Venton G,Costello RT

    更新日期:2015-09-01 00:00:00

  • Antigen-specific T cell clones restricted by DR, DRw53 (MT), or DP (SB) Class II HLA molecules. Inhibition studies with monoclonal HLA-specific antibodies.

    abstract::T lymphocyte clones (TLCs) specific for Chlamydia trachomatis were obtained after limiting dilution of activated T cells from a single donor, BS (HLA-A3; B7,15; DR1, 4; DRw53; DPw4). Most of the proliferative TLCs obtained apparently used restriction elements on DR1 or DR4 molecules, expressed in the antigen-presentin...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/0198-8859(84)90060-0

    authors: Qvigstad E,Gaudernack G,Thorsby E

    更新日期:1984-12-01 00:00:00

  • Influence of the TNFSF4 rs1234315 polymorphism in the susceptibility to systemic lupus erythematosus and rheumatoid arthritis.

    abstract:OBJECTIVES:The tumour necrosis factor superfamily 4 (TNFSF4) is a candidate gene for autoimmune diseases. We investigated the relationship of this gene with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in a Chinese Guangxi population. METHODS:A total of 294 patients with SLE, 210 with RA, and 282 h...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2018.11.006

    authors: Xu J,He Y,Wang J,Li X,Huang L,Li S,Qin X

    更新日期:2019-04-01 00:00:00

  • TCRBV12 genes are polymorphic but the protein products encoded by each gene are conserved.

    abstract::The human TCRBV gene complex contains three BV12 genes and all are polymorphic. There are two alleles of BV12S4; one allele contains a stop codon in the coding region which precludes its expression. There are four alleles of BV12S2 and two alleles of BV12S3 genes; however, the substitutions present in both genes are c...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/0198-8859(94)00152-g

    authors: Deulofeut H,Wilderson JL,Barron KS,Robinson MA

    更新日期:1995-07-01 00:00:00

  • Estimation of optimal donor number in Bone Marrow Donor Registry: Hong Kong's experience.

    abstract::Better outcome for hematopoietic stem cell transplantation (HSCT) requires optimal matching between donor and recipient at the HLA-A, -B, -C, and -DRB1 loci. This study estimates the likelihood of identifying HLA matched donors in Hong Kong. 7595 volunteer unrelated Chinese donors at the Hong Kong Bone Marrow Donor Re...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2017.08.007

    authors: Kwok J,Guo M,Yang W,Ip P,Chan GCF,Ho J,Lee CK,Middleton D,Lu L

    更新日期:2017-10-01 00:00:00

  • Sequences of four splits of HLA-A10 group. Implications for serologic cross-reactivities and their evolution.

    abstract::Nucleotide sequences of alleles encoding four serologically defined splits of the HLA-A10 group, A26.1, A26.3, A26.4, and A10SA, were determined. It was confirmed that the alleles coding for A26.1 and A26.3 are identical with A*2602 and A*2601, respectively. On the other hand, alleles for A26.4 and A10SA are thus far ...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/0198-8859(94)90263-1

    authors: Ishikawa Y,Tokunaga K,Lin L,Imanishi T,Saitou S,Kimura A,Kashiwase K,Akaza T,Tadokoro K,Juji T

    更新日期:1994-03-01 00:00:00

  • Overexpression of the PDCD2-like gene results in inhibited TNF-alpha production in activated Daudi cells.

    abstract::Both PDCD2 and PDCD2-like proteins have PDCD2_C terminal domains, but their functions are still unclear. After analysis of their expression in Gene Expression Omnibus, we hypothesized that they played a role in inflammation. In Daudi cells exposed to lipopolysaccharides, PDCD2-like RNA was upregulated, whereas PDCD2 w...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2008.01.020

    authors: Chen Q,Yan CQ,Liu FJ,Tong J,Miao SL,Chen JP

    更新日期:2008-04-01 00:00:00

  • CD1 gene polymorphism and susceptibility to celiac disease: Association of CD1E*02/02 in Moroccans.

    abstract::CD1 glycoproteins are a class of antigen presenting molecules that bind and present non-peptidic antigens (lipids and glycolipids) for immune recognition. CD1 polymorphisms, although limited, could have a critical role in antimicrobial, anticancer, and autoimmune responses and disease susceptibility. Ethnic difference...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2020.05.005

    authors: Aureli A,Aboulaghras S,Oumhani K,Del Beato T,Sebastiani P,Colanardi A,El Aouad R,Ben El Barhdadi I,Piancatelli D

    更新日期:2020-07-01 00:00:00

  • Human xenospecific T suppressor cells inhibit T helper cell proliferation to porcine aortic endothelial cells, and NF-kappaB activity in porcine APC.

    abstract::Human T suppressor cells (Ts), capable of preventing autologous T helper cells (Th) from reacting against xenogeneic pig endothelial cells and pig APC can be generated in vitro. Ts derive from a population of CD3(+)CD8(+)CD28(-) T lymphocytes and specifically recognize the MHC class I antigens of the APC used for in v...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/s0198-8859(01)00238-5

    authors: Ciubotariu R,Li J,Colovai AI,Platt JL,Cortesini R,Suciu Foca Cortesini N

    更新日期:2001-05-01 00:00:00

  • Frequency of alloantibodies reacting with PHA-activated T lymphocytes, unexplainable by known HLA activities.

    abstract::Two hundred and three sera obtained from multiparous women were screened to determine the frequency of the appearance of antibodies reactive with PHA-activated T lymphocytes, but not with resting B or T cells from the same donor. The panel of cells on which the sera were tested consisted of lymphocytes from 38 unrelat...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/0198-8859(80)90110-x

    authors: Kim SJ,Christiansen FT,Gosar I,Silver DM,Pollack MS,Dupont B

    更新日期:1980-12-01 00:00:00

  • Lack of shared lymphocyte-stimulating determinants between H-2I and HLA-D/DR using mouse primed lymphocyte typing cells.

    abstract::A number of anti-H-2 alloantisera containing antibody reactive with I region gene products (Ia) of the major histocompatibility complex cross-react with determinants expressed by human peripheral blood B lymphocytes. Such data have led to the conclusion that Ia and DR antigens share cross-reacting determinants. We hav...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/s0198-8859(83)80011-1

    authors: Shaut DM,Ireland J,Scornik JC,Peck AB

    更新日期:1983-06-01 00:00:00

  • High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing.

    abstract::Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obta...

    journal_title:Human immunology

    pub_type: 杂志文章

    doi:10.1016/j.humimm.2019.02.005

    authors: Montero-Martín G,Mallempati KC,Gangavarapu S,Sánchez-Gordo F,Herrero-Mata MJ,Balas A,Vicario JL,Sánchez-García F,González-Escribano MF,Muro M,Moya-Quiles MR,González-Fernández R,Ocejo-Vinyals JG,Marín L,Creary LE,Osoegawa K

    更新日期:2019-07-01 00:00:00