AU2003268333A1 - Methods for detection of genetic disorders - Google Patents
Methods for detection of genetic disorders Download PDFInfo
- Publication number
- AU2003268333A1 AU2003268333A1 AU2003268333A AU2003268333A AU2003268333A1 AU 2003268333 A1 AU2003268333 A1 AU 2003268333A1 AU 2003268333 A AU2003268333 A AU 2003268333A AU 2003268333 A AU2003268333 A AU 2003268333A AU 2003268333 A1 AU2003268333 A1 AU 2003268333A1
- Authority
- AU
- Australia
- Prior art keywords
- dna
- fetal dna
- interest
- locus
- primer
- Prior art date
- Legal status (The legal status 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 status listed.)
- Abandoned
Links
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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
- C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
- C07H21/02—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with ribosyl as saccharide radical
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
- C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
- C07H21/04—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with deoxyribosyl as saccharide radical
-
- 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
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
-
- 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
- C12Q1/6869—Methods for sequencing
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Molecular Biology (AREA)
- Biochemistry (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Analytical Chemistry (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Materials By The Use Of Chemical Reactions (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| PCT/US2003/006198 WO2003074723A2 (en) | 2002-03-01 | 2003-02-28 | Methods for detection of genetic disorders |
| AUPCT/US2003/006198 | 2003-02-28 | ||
| PCT/US2003/027308 WO2004079011A1 (en) | 2003-02-28 | 2003-08-29 | Methods for detection of genetic disorders |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| AU2003268333A1 true AU2003268333A1 (en) | 2004-09-28 |
Family
ID=32961098
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| AU2003268333A Abandoned AU2003268333A1 (en) | 2003-02-28 | 2003-08-29 | Methods for detection of genetic disorders |
Country Status (7)
| Country | Link |
|---|---|
| EP (2) | EP1601785A4 (es) |
| JP (1) | JP2006521086A (es) |
| AU (1) | AU2003268333A1 (es) |
| CA (1) | CA2517017A1 (es) |
| MX (1) | MXPA05009140A (es) |
| SG (1) | SG173221A1 (es) |
| WO (2) | WO2004079011A1 (es) |
Families Citing this family (32)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6977162B2 (en) | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| MXPA04008477A (es) | 2002-03-01 | 2005-10-26 | Ravgen Inc | Metodos para deteccion de trastornos geneticos. |
| US7727720B2 (en) | 2002-05-08 | 2010-06-01 | Ravgen, Inc. | Methods for detection of genetic disorders |
| US20070178478A1 (en) * | 2002-05-08 | 2007-08-02 | Dhallan Ravinder S | Methods for detection of genetic disorders |
| EP1524321B2 (en) | 2003-10-16 | 2014-07-23 | Sequenom, Inc. | Non-invasive detection of fetal genetic traits |
| CA2601221C (en) * | 2005-03-18 | 2013-08-06 | The Chinese University Of Hong Kong | A method for the detection of chromosomal aneuploidies |
| US20100184044A1 (en) | 2006-02-28 | 2010-07-22 | University Of Louisville Research Foundation | Detecting Genetic Abnormalities |
| US8609338B2 (en) | 2006-02-28 | 2013-12-17 | University Of Louisville Research Foundation, Inc. | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| DK2351858T3 (da) | 2006-02-28 | 2015-04-07 | Univ Louisville Res Found | Påvisning af føtale kromosomabnormiteter ved anvendelse af tandem-enkeltnukleotid-polymorfismer |
| AU2013202132C1 (en) * | 2007-07-23 | 2019-07-04 | The Chinese University Of Hong Kong | Determining a nucleic acid sequence imbalance using multiple markers |
| EA017966B1 (ru) | 2007-07-23 | 2013-04-30 | Те Чайниз Юниверсити Ов Гонгконг | Диагностика фетальной хромосомной анэуплоидии с использованием геномного секвенирования |
| US20100112590A1 (en) | 2007-07-23 | 2010-05-06 | The Chinese University Of Hong Kong | Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment |
| AU2015271883B2 (en) * | 2007-07-23 | 2017-06-29 | The Chinese University Of Hong Kong | Determining a nucleic acid sequence imbalance using fractional fetal concentration |
| US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| US8962247B2 (en) | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
| AU2013203446B2 (en) * | 2009-11-05 | 2015-05-14 | Sequenom, Inc. | Identifying a de novo fetal mutation from a maternal biological sample |
| WO2011057094A1 (en) | 2009-11-05 | 2011-05-12 | The Chinese University Of Hong Kong | Fetal genomic analysis from a maternal biological sample |
| ES2577017T3 (es) | 2009-12-22 | 2016-07-12 | Sequenom, Inc. | Procedimientos y kits para identificar la aneuploidia |
| CN101962684B (zh) * | 2010-11-04 | 2012-03-28 | 徐州师范大学 | 黄牛pcsk1基因的单核苷酸多态性及其检测方法 |
| ES2930180T3 (es) | 2012-03-02 | 2022-12-07 | Sequenom Inc | Métodos para enriquecer ácido nucleico canceroso a partir de una muestra biológica |
| US9892230B2 (en) | 2012-03-08 | 2018-02-13 | The Chinese University Of Hong Kong | Size-based analysis of fetal or tumor DNA fraction in plasma |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| WO2014011928A1 (en) | 2012-07-13 | 2014-01-16 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| CN104619858B (zh) * | 2012-07-31 | 2017-06-06 | 深圳华大基因股份有限公司 | 胎儿健康状态的无创性检测 |
| WO2014168711A1 (en) | 2013-03-13 | 2014-10-16 | Sequenom, Inc. | Primers for dna methylation analysis |
| RU2557976C2 (ru) * | 2013-05-07 | 2015-07-27 | Федеральное государственное бюджетное учреждение науки институт биоорганической химии им. академиков М.М. Шемякина и Ю.А. Овчинникова Российской академии наук (ИБХ РАН) | Способ определения чувствительности клеток рака легкого к цисплатину на основании уровней экспрессии маркерных генов и набор для его осуществления |
| EP3736344A1 (en) | 2014-03-13 | 2020-11-11 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10364467B2 (en) | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
| WO2019013613A2 (es) | 2017-07-09 | 2019-01-17 | Hakken Enterprise Sa De Cv | Métodos y kits para determinar el riesgo de cáncer |
| US11555764B1 (en) * | 2019-11-25 | 2023-01-17 | Patient Knowhow, Inc. | Dynamic modification of bioaerosol detection with genetic identification |
| CN111378721B (zh) * | 2020-04-16 | 2023-06-23 | 广西壮族自治区水产科学研究院 | 凡纳滨对虾耐亚硝酸盐氮性状相关的分子标记及其筛选 |
| JP2023184021A (ja) * | 2022-06-17 | 2023-12-28 | 株式会社日立製作所 | 遺伝子分析方法、遺伝子分析装置、及び遺伝子分析用キット |
Family Cites Families (15)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5541308A (en) * | 1986-11-24 | 1996-07-30 | Gen-Probe Incorporated | Nucleic acid probes for detection and/or quantitation of non-viral organisms |
| US5639611A (en) * | 1988-12-12 | 1997-06-17 | City Of Hope | Allele specific polymerase chain reaction |
| US5641628A (en) * | 1989-11-13 | 1997-06-24 | Children's Medical Center Corporation | Non-invasive method for isolation and detection of fetal DNA |
| ES2194843T3 (es) * | 1992-09-11 | 2003-12-01 | Hoffmann La Roche | Deteccion de acidos nucleicos en sangre. |
| GB9223035D0 (en) * | 1992-11-03 | 1992-12-16 | Kiessling Cooper Ann A | Preservation of peripheral blood & semen in fixatives that inactivate human pathogens |
| US6017699A (en) * | 1993-09-15 | 2000-01-25 | The University Of Pittsburgh | PCR identification and quantification of important Candida species |
| US5998141A (en) * | 1997-07-10 | 1999-12-07 | Millennium Pharmaceuticals, Inc. | Intronic and polymorphic SR-BI nucleic acids and uses therefor |
| US6090553A (en) * | 1997-10-29 | 2000-07-18 | Beckman Coulter, Inc. | Use of uracil-DNA glycosylase in genetic analysis |
| US6203989B1 (en) * | 1998-09-30 | 2001-03-20 | Affymetrix, Inc. | Methods and compositions for amplifying detectable signals in specific binding assays |
| US6225061B1 (en) * | 1999-03-10 | 2001-05-01 | Sequenom, Inc. | Systems and methods for performing reactions in an unsealed environment |
| US6387621B1 (en) * | 1999-04-27 | 2002-05-14 | University Of Utah Research Foundation | Automated analysis of real-time nucleic acid amplification |
| GB0016742D0 (en) * | 2000-07-10 | 2000-08-30 | Simeg Limited | Diagnostic method |
| CA2428757A1 (en) * | 2000-11-15 | 2002-07-18 | Roche Diagnostics Corporation | Methods and reagents for identifying rare fetal cells in the maternal circulation |
| EP1373574A4 (en) * | 2001-03-30 | 2007-01-03 | Ge Healthcare Bio Sciences Ab | P450 single nucleotide BIOCHIPs ANALYSIS |
| US6720144B1 (en) * | 2001-06-21 | 2004-04-13 | Quest Diagnostics | Detection of clonal T-cell receptor-γ gene rearrangement by PCR/temporal temperature gradient gel electrophoresis (TTGE) |
-
2003
- 2003-08-29 MX MXPA05009140A patent/MXPA05009140A/es active IP Right Grant
- 2003-08-29 WO PCT/US2003/027308 patent/WO2004079011A1/en active Application Filing
- 2003-08-29 AU AU2003268333A patent/AU2003268333A1/en not_active Abandoned
- 2003-08-29 SG SG2007063639A patent/SG173221A1/en unknown
- 2003-08-29 CA CA002517017A patent/CA2517017A1/en not_active Abandoned
- 2003-08-29 EP EP03749291A patent/EP1601785A4/en not_active Withdrawn
- 2003-08-29 JP JP2004569189A patent/JP2006521086A/ja active Pending
-
2004
- 2004-03-01 WO PCT/US2004/006337 patent/WO2004078994A2/en active Application Filing
- 2004-03-01 EP EP04716171A patent/EP1601793A4/en not_active Withdrawn
Also Published As
| Publication number | Publication date |
|---|---|
| SG173221A1 (en) | 2011-08-29 |
| CA2517017A1 (en) | 2004-09-16 |
| WO2004078994A3 (en) | 2005-10-13 |
| EP1601785A1 (en) | 2005-12-07 |
| EP1601785A4 (en) | 2007-02-07 |
| WO2004079011A1 (en) | 2004-09-16 |
| EP1601793A2 (en) | 2005-12-07 |
| JP2006521086A (ja) | 2006-09-21 |
| MXPA05009140A (es) | 2006-04-28 |
| WO2004078994A2 (en) | 2004-09-16 |
| EP1601793A4 (en) | 2007-02-21 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| MK5 | Application lapsed section 142(2)(e) - patent request and compl. specification not accepted |