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WO2002010454A3 - Haplotypes of the alas2 gene - Google Patents

Haplotypes of the alas2 gene Download PDF

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Publication number
WO2002010454A3
WO2002010454A3 PCT/US2001/023914 US0123914W WO0210454A3 WO 2002010454 A3 WO2002010454 A3 WO 2002010454A3 US 0123914 W US0123914 W US 0123914W WO 0210454 A3 WO0210454 A3 WO 0210454A3
Authority
WO
WIPO (PCT)
Prior art keywords
haplotypes
alas2
gene
disclosed
alas2 gene
Prior art date
Application number
PCT/US2001/023914
Other languages
French (fr)
Other versions
WO2002010454A2 (en
Inventor
Julie Y Choi
Beena Koshy
Stephanie Kliem
Joel Claiborne Stephens
Original Assignee
Genaissance Pharmaceuticals
Julie Y Choi
Beena Koshy
Stephanie Kliem
Joel Claiborne Stephens
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
Application filed by Genaissance Pharmaceuticals, Julie Y Choi, Beena Koshy, Stephanie Kliem, Joel Claiborne Stephens filed Critical Genaissance Pharmaceuticals
Priority to AU2001284680A priority Critical patent/AU2001284680A1/en
Publication of WO2002010454A2 publication Critical patent/WO2002010454A2/en
Publication of WO2002010454A3 publication Critical patent/WO2002010454A3/en

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    • 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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/10—Transferases (2.)
    • C12N9/1025—Acyltransferases (2.3)
    • C12N9/1029—Acyltransferases (2.3) transferring groups other than amino-acyl groups (2.3.1)
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y203/00—Acyltransferases (2.3)
    • C12Y203/01—Acyltransferases (2.3) transferring groups other than amino-acyl groups (2.3.1)
    • C12Y203/01037—5-Aminolevulinate synthase (2.3.1.37)
    • 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
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Medicinal Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Novel genetic variants of the Aminolevulinate Delta Synthase 2 (ALAS2) gene are described. Various genotypes, haplotypes, and haplotype pairs that exist in the general United States population are disclosed for the ALAS2 gene. Compositions and methods for haplotyping and/or genotyping the ALAS2 gene in an individual are also disclosed. Polynucleotides defined by the haplotypes disclosed herein are also described.
PCT/US2001/023914 2000-07-28 2001-07-30 Haplotypes of the alas2 gene WO2002010454A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001284680A AU2001284680A1 (en) 2000-07-28 2001-07-30 Haplotypes of the alas2 gene

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US22182700P 2000-07-28 2000-07-28
US60/221,827 2000-07-28

Publications (2)

Publication Number Publication Date
WO2002010454A2 WO2002010454A2 (en) 2002-02-07
WO2002010454A3 true WO2002010454A3 (en) 2003-09-12

Family

ID=22829564

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/023914 WO2002010454A2 (en) 2000-07-28 2001-07-30 Haplotypes of the alas2 gene

Country Status (2)

Country Link
AU (1) AU2001284680A1 (en)
WO (1) WO2002010454A2 (en)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2020056400A1 (en) 2018-09-14 2020-03-19 The Children's Hospital Of Philadelphia Compositions and methods for hemoglobin production
US20220389448A1 (en) * 2019-06-28 2022-12-08 The Children's Hospital Of Philadelphia Compositions and methods for treating anemia
CN112442516A (en) * 2019-08-29 2021-03-05 广州辑因医疗科技有限公司 Method for efficiently repairing gene mutation of cricoid sideroblasts
CN114222816A (en) * 2019-08-29 2022-03-22 广州辑因医疗科技有限公司 Method for efficiently repairing gene mutation of cricoid sideroblasts

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993005783A1 (en) * 1991-09-20 1993-04-01 The General Hospital Corporation Diagnosis and therapy for parkinson's disease
US5972614A (en) * 1995-12-06 1999-10-26 Genaissance Pharmaceuticals Genome anthologies for harvesting gene variants
WO2001080156A1 (en) * 2000-04-18 2001-10-25 Genaissance Pharmaceuticals, Inc. Method and system for determining haplotypes from a collection of polymorphisms

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993005783A1 (en) * 1991-09-20 1993-04-01 The General Hospital Corporation Diagnosis and therapy for parkinson's disease
US5972614A (en) * 1995-12-06 1999-10-26 Genaissance Pharmaceuticals Genome anthologies for harvesting gene variants
WO2001080156A1 (en) * 2000-04-18 2001-10-25 Genaissance Pharmaceuticals, Inc. Method and system for determining haplotypes from a collection of polymorphisms

Non-Patent Citations (15)

* Cited by examiner, † Cited by third party
Title
[online] 23 November 1999 (1999-11-23), BIRD: "Homo sapiens DNA sequence from PAC 884M20 on chromosome Xp11.21", XP002227910, retrieved from EM_HUM Database accession no. AL020991 *
CLAIBORNE STEPHENS J: "SINGLE-NUCLEOTIDE POLYMORPHISMS, HAPLOTYPES AND THEIR RELEVANCE TO PHARMACOGENTICS", MOLECULAR DIAGNOSIS, NAPERVILLE, IL, US, vol. 4, no. 4, 1999, pages 309 - 317, XP002937520, ISSN: 1084-8592 *
CLARK A G ET AL: "HAPLOTYPE STRUCTURE AND POPULATION GENETIC INFERENCES FROM NUCLEOTIDE- SEQUENCE VARIATION IN HUMAN LIPOPROTEIN LIPASE", AMERICAN JOURNAL OF HUMAN GENETICS, UNIVERSITY OF CHICAGO PRESS, CHICAGO,, US, vol. 63, 1998, pages 595 - 612, XP002937239, ISSN: 0002-9297 *
CONBOY J G ET AL: "Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing.", THE JOURNAL OF BIOLOGICAL CHEMISTRY. UNITED STATES 15 SEP 1992, vol. 267, no. 26, 15 September 1992 (1992-09-15), pages 18753 - 18758, XP002227908, ISSN: 0021-9258 *
COTTER P D ET AL: "Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. UNITED STATES 1 MAY 1992, vol. 89, no. 9, 1 May 1992 (1992-05-01), pages 4028 - 4032, XP002227906, ISSN: 0027-8424 *
COTTER P D ET AL: "Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.", BLOOD. UNITED STATES 1 MAR 1999, vol. 93, no. 5, 1 March 1999 (1999-03-01), pages 1757 - 1769, XP002227907, ISSN: 0006-4971 *
DRYSDALE C M ET AL: "COMPLEX PROMOTER AND CODING REGION BETA2-ADRENERGIC RECEPTOR HAPLOTYPES ALTER RECEPTOR EXPRESSION AND PREDICT IN VIVO RESPONSIVENESS", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF USA, NATIONAL ACADEMY OF SCIENCE. WASHINGTON, US, vol. 97, no. 19, 12 September 2000 (2000-09-12), pages 10483 - 10488, XP002940094, ISSN: 0027-8424 *
EMILIEN G ET AL: "IMPACT OF GENOMICS ON DRUG DISCOVERY AND CLINICAL MEDICINE", QUARTERLY JOURNAL OF MEDICINE, CLARENDON PRESS, OXFORD, GB, vol. 93, no. 7, June 2000 (2000-06-01), pages 391 - 423, XP000941207, ISSN: 0033-5622 *
JUDSON R ET AL: "THE PREDICTIVE POWER OF HAPLOTYPES IN CLINICAL RESPONSE", PHARMACOGENOMICS, ASHLEY PUBLICATIONS, GB, vol. 1, no. 1, February 2000 (2000-02-01), pages 15 - 26, XP001113104, ISSN: 1462-2416 *
LU ANTONY Y H: "Drug-metabolism research challenges in the new millennium: Individual variability in drug therapy and drug safety.", DRUG METABOLISM AND DISPOSITION, vol. 26, no. 12, December 1998 (1998-12-01), pages 1217 - 1222, XP002223866, ISSN: 0090-9556 *
MAREZ D ET AL: "Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution", PHARMACOGENETICS, CHAPMAN & HALL, LONDON, GB, vol. 7, no. 3, 1997, pages 193 - 202, XP002955538, ISSN: 0960-314X *
MAY A ET AL: "The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.", HAEMATOLOGICA. ITALY JAN 1998, vol. 83, no. 1, January 1998 (1998-01-01), pages 56 - 70, XP002227909, ISSN: 0390-6078 *
RUANO G ET AL: "GENOTYPING AND HAPLOTYPING OF POLYMORPHISMS DIRECTLY FROM GENOMIC DNA VIA COUPLED AMPLIFICATION AND SEQUENCING (CAS)", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 19, no. 24, 1991, pages 6877 - 6882, XP000197814, ISSN: 0305-1048 *
RUANO: "Genaissance Awarded Broad Patent On Methods For Collecting Genes For Variation Analysis Across Populations", GENAISSANCE PRESS RELEASE, 8 November 1999 (1999-11-08), XP002229209, Retrieved from the Internet <URL:www.biomedicine.ch/publications/genaissance/g111199.html> [retrieved on 20030226] *
ULBRECHT M ET AL: "Assoziation of beta 2-adrenoreceptor variants with bronchial hyperresponsiveness", AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, AMERICAN LUNG ASSOCIATION, NEW YORK, NY, US, vol. 161, no. 2, February 2000 (2000-02-01), pages 469 - 474, XP002188594, ISSN: 1073-449X *

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Publication number Publication date
AU2001284680A1 (en) 2002-02-13
WO2002010454A2 (en) 2002-02-07

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