WO2001032702A3 - Molecular structure of rhd negative locus - Google Patents

Molecular structure of rhd negative locus Download PDF

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Publication number
WO2001032702A3
WO2001032702A3 PCT/EP2000/010745 EP0010745W WO0132702A3 WO 2001032702 A3 WO2001032702 A3 WO 2001032702A3 EP 0010745 W EP0010745 W EP 0010745W WO 0132702 A3 WO0132702 A3 WO 0132702A3
Authority
WO
WIPO (PCT)
Prior art keywords
rhesus
relates
rhd
box
molecular structure
Prior art date
Application number
PCT/EP2000/010745
Other languages
French (fr)
Other versions
WO2001032702A2 (en
WO2001032702A9 (en
WO2001032702B1 (en
Inventor
Willy A Flegel
Franz F Wagner
Original Assignee
Drk Blutspendedienst Bw
Willy A Flegel
Franz F Wagner
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Priority to AU11455/01A priority Critical patent/AU784319B2/en
Priority to EP00972884A priority patent/EP1226169B1/en
Priority to US10/129,580 priority patent/US9034573B1/en
Priority to CNB008177775A priority patent/CN100475842C/en
Priority to DE60033954T priority patent/DE60033954T2/en
Priority to JP2001535401A priority patent/JP4620920B2/en
Application filed by Drk Blutspendedienst Bw, Willy A Flegel, Franz F Wagner filed Critical Drk Blutspendedienst Bw
Publication of WO2001032702A2 publication Critical patent/WO2001032702A2/en
Publication of WO2001032702A9 publication Critical patent/WO2001032702A9/en
Publication of WO2001032702A3 publication Critical patent/WO2001032702A3/en
Publication of WO2001032702B1 publication Critical patent/WO2001032702B1/en
Priority to AU2006202359A priority patent/AU2006202359B2/en
Priority to US12/390,982 priority patent/US9217181B2/en

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P15/00—Drugs for genital or sexual disorders; Contraceptives
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/52—Genes encoding for enzymes or proenzymes
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/16—Primer sets for multiplex assays
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

Abstract

The present invention relates to a nucleic acid molecular structure representing the Rhesus genes locus comprising the RHD, SMP1 and RHCE genes and/or the Rhesus box(es), preferably the hybrid Rhesus box, the upstream Rhesus box and/or the downstream Rhesus box. Furthermore, the invention relates to a process for the specific detection of the common RHD negative haplotypes. The invention further relates to the detection of RHD positive haplotypes in D-negative individuals. Various mutations in the RHD gene have been identified that allow for the development of diagnostic tools. The invention also relates to oligonucleotides, that specifically hybridize to the hybrid box, preferably the breakpoint or breakpoint region or to the upstream and downstream Rhesus boxes. Additionally, the invention relates to kits comprising or employing the above recited compounds of the invention.
PCT/EP2000/010745 1999-11-02 2000-10-31 Molecular structure of rhd negative locus WO2001032702A2 (en)

Priority Applications (8)

Application Number Priority Date Filing Date Title
EP00972884A EP1226169B1 (en) 1999-11-02 2000-10-31 Molecular structure of rhd negative locus
US10/129,580 US9034573B1 (en) 1999-11-02 2000-10-31 Molecular structure of RHD negative
CNB008177775A CN100475842C (en) 1999-11-02 2000-10-31 Molecular structure of RHD negative genes locus
DE60033954T DE60033954T2 (en) 1999-11-02 2000-10-31 MOLECULAR STRUCTURE OF THE RHD-NEGATIVE GENESIS
JP2001535401A JP4620920B2 (en) 1999-11-02 2000-10-31 Molecular structure of RHD negative locus
AU11455/01A AU784319B2 (en) 1999-11-02 2000-10-31 Molecular structure of RHD negative locus
AU2006202359A AU2006202359B2 (en) 1999-11-02 2006-06-02 Molecular structure of RHD negative locus
US12/390,982 US9217181B2 (en) 1999-11-02 2009-02-23 Molecular structure of RHD negative

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
EP99121686 1999-11-02
EP99121686.2 1999-11-02
EP00111696.1 2000-05-31
EP00111696 2000-05-31

Related Child Applications (2)

Application Number Title Priority Date Filing Date
US10/129,580 A-371-Of-International US9034573B1 (en) 1999-11-02 2000-10-31 Molecular structure of RHD negative
US12/390,982 Division US9217181B2 (en) 1999-11-02 2009-02-23 Molecular structure of RHD negative

Publications (4)

Publication Number Publication Date
WO2001032702A2 WO2001032702A2 (en) 2001-05-10
WO2001032702A9 WO2001032702A9 (en) 2001-10-11
WO2001032702A3 true WO2001032702A3 (en) 2002-02-28
WO2001032702B1 WO2001032702B1 (en) 2002-03-28

Family

ID=26071006

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2000/010745 WO2001032702A2 (en) 1999-11-02 2000-10-31 Molecular structure of rhd negative locus

Country Status (9)

Country Link
US (2) US9034573B1 (en)
EP (2) EP1780217B1 (en)
JP (1) JP4620920B2 (en)
CN (1) CN100475842C (en)
AT (2) ATE462722T1 (en)
AU (2) AU784319B2 (en)
DE (2) DE60044105D1 (en)
ES (2) ES2283324T3 (en)
WO (1) WO2001032702A2 (en)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001081621A2 (en) * 2000-04-20 2001-11-01 Adnagen Ag Method, diagnostic kit and microarray for determining the rhesus factor
US20080261205A1 (en) * 2004-02-06 2008-10-23 Canadian Blood Services Method for the Simultaneous Determination of Blood Group and Platelet Antigen Genotypes
CN1570148B (en) * 2004-03-25 2010-08-18 深圳市血液中心 Individual RHD gene zygote type detection PCR primer and detergent kit and detection method
AU2008213634B2 (en) 2007-02-08 2013-09-05 Sequenom, Inc. Nucleic acid-based tests for RhD typing, gender determination and nucleic acid quantification
CA2731086A1 (en) * 2008-07-18 2010-01-21 Wen-Hua Fan Non-invasive fetal rhd genotyping from maternal whole blood
US20110070590A1 (en) 2009-09-22 2011-03-24 Jan Rohozinski Primers and Methods for Determining RhD Zygosity
EP2721171A1 (en) 2011-06-17 2014-04-23 Progenika Biopharma, S.A. Discrimination of blood type variants
US9359643B2 (en) 2013-03-08 2016-06-07 Progenika Biopharma S.A. Discrimination of blood type variants
CN103966228B (en) * 2014-04-25 2015-12-09 无锡市第五人民医院 A kind of Rh blood group DEL type RHD93T > A allelotrope and detection method thereof
EP3545102B1 (en) 2016-11-23 2021-07-28 Gassner, Christoph Determination of the genotype underlying the s-s-u- phenotype of the mnss blood group system
TWI709188B (en) 2018-09-27 2020-11-01 財團法人工業技術研究院 Fusion-based classifier, classification method, and classification system

Citations (4)

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Publication number Priority date Publication date Assignee Title
WO1998045712A2 (en) * 1997-04-08 1998-10-15 Human Genome Sciences, Inc. 20 human secreted proteins
WO1999037763A2 (en) * 1998-01-23 1999-07-29 Drk Blutspendedienst Baden-Wuerttemberg Ggmbh Novel nucleic acid molecules correlated with the rhesus weak d phenotype
WO1999047555A1 (en) * 1998-03-20 1999-09-23 Genetics Institute, Inc. Secreted proteins and polynucleotides encoding them
US5972602A (en) * 1993-08-27 1999-10-26 Australian Red Cross Society Quantitative PCR-based method of gene detection

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US5474796A (en) * 1991-09-04 1995-12-12 Protogene Laboratories, Inc. Method and apparatus for conducting an array of chemical reactions on a support surface
US5654419A (en) * 1994-02-01 1997-08-05 The Regents Of The University Of California Fluorescent labels and their use in separations
US6821724B1 (en) * 1998-09-17 2004-11-23 Affymetrix, Inc. Methods of genetic analysis using nucleic acid arrays

Patent Citations (4)

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US5972602A (en) * 1993-08-27 1999-10-26 Australian Red Cross Society Quantitative PCR-based method of gene detection
WO1998045712A2 (en) * 1997-04-08 1998-10-15 Human Genome Sciences, Inc. 20 human secreted proteins
WO1999037763A2 (en) * 1998-01-23 1999-07-29 Drk Blutspendedienst Baden-Wuerttemberg Ggmbh Novel nucleic acid molecules correlated with the rhesus weak d phenotype
WO1999047555A1 (en) * 1998-03-20 1999-09-23 Genetics Institute, Inc. Secreted proteins and polynucleotides encoding them

Non-Patent Citations (11)

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Title
AVENT ND ET AL: "Evidence of genetic diversity underlying Rh D-, weak D (Du), and partial D phenotypes as determined by multiplex polymerase chain reaction analysis of the RHD gene", BLOOD, W.B. SAUNDERS, PHILADELPHIA, VA, US, vol. 89, no. 7, 1 April 1997 (1997-04-01), pages 2568 - 2577, XP002108680, ISSN: 0006-4971 *
BLUNT, T. ET AL.: "Serotype switching in a partially deleted RHD gene", VOX SANGUINIS, vol. 67, no. 4, 1994, pages 397 - 401, XP000926512 *
CARRITT, B. ET AL.: "Evolution of the Rh (rhesus) blood group genes: a 50 year old predication (partially) fulfilled", HUMAN MOLECULAR GENETICS., vol. 6, no. 6, 1997, OXFORD UNIVERSITY PRESS, SURREY., GB, pages 843 - 850, XP000998694, ISSN: 0964-6906 *
CARRITT, B. ET AL.: "Rh null phenotypes are not due to a gross deletion and can occur on different Rh genetic backgrounds", ANNALS OF HUMAN GENETICS, vol. 57, no. 4, 1993, pages 273 - 279, XP000926510 *
CHERIF-ZAHAR B ET AL: "Organization of the gene ( RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region.", GENOMICS, vol. 19, no. 1, 1994, pages 68 - 74, XP000926511, ISSN: 0888-7543 *
DATABASE EM_HUM [online] EMBL; 13 August 1998 (1998-08-13), COBLEY. V. ET AL.: "Human DNA sequence clone RP3-469D22 on chromosome 1p35.1-36.13, contains the 5'part of the gene for RHCE.", XP002178290, retrieved from EBI accession no. HS469D22 Database accession no. AL031284 *
HU, G.: "Human small membrane protein 1 (SMP1) mRNA", EMBL SEQUENCE DATABASE, HEIDELBERG DE, XP002170737 *
LE VAN KIM CAROLINE ET AL: "Molecular cloning and primary structure of the human blood group RhD polypeptide.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES, vol. 89, no. 22, 1992, 1992, pages 10925 - 10929, XP002134526, ISSN: 0027-8424 *
OKUDA H ET AL: "SEQUENCE ANALYSIS OF THE SPACER REGION BETWEEN THE RHD AND RHCE GENES", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS., vol. 263, 24 September 1999 (1999-09-24), ACADEMIC PRESS INC. ORLANDO, FL., US, pages 378 - 383, XP000998148, ISSN: 0006-291X *
SINGLETON BELINDA K ET AL: "The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the Rh D-negative blood group phenotype.", BLOOD, vol. 95, no. 1, 1 January 2000 (2000-01-01), pages 12 - 18, XP001011309, ISSN: 0006-4971 *
WAGNER, F.F. ET AL.: "RHD gene deletion occured in the Rhesus box", BLOOD, vol. 29, no. 12, 15 June 2000 (2000-06-15), WASHINGTON US, pages 3662 - 3668, XP000926502 *

Also Published As

Publication number Publication date
DE60033954D1 (en) 2007-04-26
ATE462722T1 (en) 2010-04-15
ES2342837T3 (en) 2010-07-15
AU2006202359B2 (en) 2008-11-06
WO2001032702A2 (en) 2001-05-10
ATE356828T1 (en) 2007-04-15
US20110172406A1 (en) 2011-07-14
AU784319B2 (en) 2006-03-09
AU2006202359A1 (en) 2006-06-29
JP2003513620A (en) 2003-04-15
DE60044105D1 (en) 2010-05-12
JP4620920B2 (en) 2011-01-26
CN1413219A (en) 2003-04-23
EP1226169A2 (en) 2002-07-31
US9217181B2 (en) 2015-12-22
EP1226169B1 (en) 2007-03-14
CN100475842C (en) 2009-04-08
US9034573B1 (en) 2015-05-19
EP1780217B1 (en) 2010-03-31
DE60033954T2 (en) 2008-04-17
AU1145501A (en) 2001-05-14
WO2001032702A9 (en) 2001-10-11
ES2283324T3 (en) 2007-11-01
EP1780217A1 (en) 2007-05-02
WO2001032702B1 (en) 2002-03-28

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