CA2120336A1 - Detecting digeorge syndrome mutations - Google Patents
Detecting digeorge syndrome mutationsInfo
- Publication number
- CA2120336A1 CA2120336A1 CA002120336A CA2120336A CA2120336A1 CA 2120336 A1 CA2120336 A1 CA 2120336A1 CA 002120336 A CA002120336 A CA 002120336A CA 2120336 A CA2120336 A CA 2120336A CA 2120336 A1 CA2120336 A1 CA 2120336A1
- Authority
- CA
- Canada
- Prior art keywords
- digeorge syndrome
- syndrome
- digeorge
- detecting
- human patient
- 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.)
- Granted
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
- C12Q1/6876—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
- 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
Abstract
There is provided by this invention methods of detecting genetic deletions and mutations associated with at least one condition selected from the group consisting of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate in a human patient comprising the steps of providing a DNA containing test sample from said human patient; identifying whether there are less than two functional copies of the DiGeorge syndrome critical region loci, whereby said identification of less than two copies of the DiGeorge syndrome critical region loci is indicative of a likelihood that said person has at least one of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate. Probes and primers useful in the invention are also provided as are diagnostic kits.
Applications Claiming Priority (5)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US77075891A | 1991-10-04 | 1991-10-04 | |
US770,758 | 1991-10-04 | ||
US91153492A | 1992-07-10 | 1992-07-10 | |
US911,534 | 1992-07-10 | ||
PCT/US1992/007536 WO1993007293A1 (en) | 1991-10-04 | 1992-09-02 | Detecting digeorge syndrome mutations |
Publications (2)
Publication Number | Publication Date |
---|---|
CA2120336A1 true CA2120336A1 (en) | 1993-04-15 |
CA2120336C CA2120336C (en) | 2007-04-24 |
Family
ID=27118352
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
CA002120336A Expired - Lifetime CA2120336C (en) | 1991-10-04 | 1992-09-02 | Detecting digeorge syndrome mutations |
Country Status (8)
Country | Link |
---|---|
US (1) | US5576178A (en) |
EP (1) | EP0672172B1 (en) |
JP (1) | JPH07501691A (en) |
AT (1) | ATE197964T1 (en) |
AU (1) | AU675774B2 (en) |
CA (1) | CA2120336C (en) |
DE (1) | DE69231595T2 (en) |
WO (1) | WO1993007293A1 (en) |
Families Citing this family (26)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US6303294B1 (en) * | 1991-10-04 | 2001-10-16 | The Children's Hospital Of Philadelphia | Methods of detecting genetic deletions and mutations associated with Digeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate and probes useful therefore |
US6022689A (en) * | 1995-04-07 | 2000-02-08 | University Of New Mexico | Situ hybridization slide processes |
WO1997011088A1 (en) * | 1995-09-20 | 1997-03-27 | The Children's Hospital Of Philadelphia | Novel genes mapping in the digeorge and velocardiofacial syndrome minimal critical region |
WO1997013869A1 (en) * | 1995-10-10 | 1997-04-17 | The Regents Of The University Of California | Detection of allele-specific mutations by allele-specific in situ reverse transcriptase polymerase chain reaction |
US8043835B1 (en) | 1996-03-26 | 2011-10-25 | Oncomedx, Inc. | Methods for detecting and monitoring cancer using extracellular RNA |
ES2347854T5 (en) * | 1996-03-26 | 2014-07-24 | Michael S. Kopreski | Method that allows the use of extracellular RNA extracted from plasma or serum to detect, monitor or evaluate a cancer |
US7785842B2 (en) * | 1996-03-26 | 2010-08-31 | Oncomedx, Inc. | Comparative analysis of extracellular RNA species |
US6759217B2 (en) * | 1996-03-26 | 2004-07-06 | Oncomedx, Inc. | Method enabling use of extracellular RNA extracted from plasma or serum to detect, monitor or evaluate cancer |
US6607898B1 (en) * | 1996-03-26 | 2003-08-19 | Oncomedx, Inc. | Method for detection of hTR and hTERT telomerase-associated RNA in plasma or serum |
US6794135B1 (en) * | 1996-03-26 | 2004-09-21 | Oncomedx, Inc. | Method for detection of 5T4 RNA in plasma or serum |
US8440396B2 (en) * | 1997-03-14 | 2013-05-14 | Oncomedx, Inc. | Method enabling use of extracellular RNA extracted from plasma or serum to detect, monitor or evaluate cancer |
US20070009934A1 (en) * | 1997-03-14 | 2007-01-11 | Kopreski Michael S | Method enabling use of extracellular RNA extracted from plasma or serum to detect, monitor or evaluate cancer |
US7767422B2 (en) * | 1998-09-22 | 2010-08-03 | Oncomedx, Inc. | Detection of 5T4 RNA in plasma and serum |
US20060204989A1 (en) * | 1998-09-22 | 2006-09-14 | Kopreski Michael S | Comparative analysis of extracellular RNA species |
US8163524B2 (en) * | 1998-09-22 | 2012-04-24 | Oncomedx, Inc. | Comparative analysis of extracellular RNA species |
US20090233276A1 (en) * | 1998-09-22 | 2009-09-17 | Oncomedx, Inc. | Method Enabling the Use of Extracellular Ribonucleic Acid (RNA) Extracted from Plasma or Serum to Detect, Monitor or Evaluate Cancer or Premalignant Conditions |
DE60144027D1 (en) * | 2000-08-28 | 2011-03-24 | Oncomedx Inc | 5T4 RNA IN PLASMA AND SERUM AS A MARKER FOR NEOPLASTIC ILLNESSES |
DK1421215T3 (en) * | 2001-07-25 | 2011-06-27 | Oncomedx Inc | Methods for evaluating pathological conditions using extracellular RNA |
US20030104454A1 (en) * | 2001-11-05 | 2003-06-05 | Kopreski Michael S. | Method for detection of DNA methyltransferase RNA in plasma and serum |
US20100159464A1 (en) * | 2001-11-05 | 2010-06-24 | Oncomedx, Inc. | Method for Detection of DNA Methyltransferase RNA in Plasma and Serum |
CA2502549C (en) * | 2004-04-23 | 2016-02-16 | Becton, Dickinson And Company | Use of an extraction control in a method of extracting nucleic acids |
US20090104620A1 (en) * | 2007-07-03 | 2009-04-23 | Axial Biotech, Inc. | Simplified Method of Determining Predisposition to Scoliosis |
US20090035772A1 (en) * | 2007-07-03 | 2009-02-05 | Axial Biotech, Inc. | Genetic Markers Associated With Scoliosis And Uses Thereof |
US20090035769A1 (en) * | 2007-12-31 | 2009-02-05 | Nelson Lesa M | Genetic Markers Associated with Scoliosis and Uses Thereof |
US20090136942A1 (en) * | 2007-09-18 | 2009-05-28 | Oncomedx, Inc. | Analysis of Extracellular RNA |
ES2780775A1 (en) | 2019-02-25 | 2020-08-26 | Servei De Salut De Les Illes Balears - Ibsalut | METHOD TO DETECT DUPLICATIONS AND/OR DELETIONS IN THE 22q11.2 CHROMOSOME REGION (Machine-translation by Google Translate, not legally binding) |
Family Cites Families (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US4683195A (en) * | 1986-01-30 | 1987-07-28 | Cetus Corporation | Process for amplifying, detecting, and/or-cloning nucleic acid sequences |
-
1992
- 1992-09-02 WO PCT/US1992/007536 patent/WO1993007293A1/en active IP Right Grant
- 1992-09-02 JP JP5506902A patent/JPH07501691A/en active Pending
- 1992-09-02 CA CA002120336A patent/CA2120336C/en not_active Expired - Lifetime
- 1992-09-02 AT AT92920648T patent/ATE197964T1/en not_active IP Right Cessation
- 1992-09-02 AU AU26514/92A patent/AU675774B2/en not_active Expired
- 1992-09-02 DE DE69231595T patent/DE69231595T2/en not_active Expired - Fee Related
- 1992-09-02 EP EP92920648A patent/EP0672172B1/en not_active Expired - Lifetime
-
1993
- 1993-11-22 US US08/156,672 patent/US5576178A/en not_active Expired - Lifetime
Also Published As
Publication number | Publication date |
---|---|
WO1993007293A1 (en) | 1993-04-15 |
AU2651492A (en) | 1993-05-03 |
EP0672172A1 (en) | 1995-09-20 |
AU675774B2 (en) | 1997-02-20 |
DE69231595T2 (en) | 2001-05-31 |
DE69231595D1 (en) | 2001-01-11 |
ATE197964T1 (en) | 2000-12-15 |
US5576178A (en) | 1996-11-19 |
EP0672172A4 (en) | 1996-08-21 |
EP0672172B1 (en) | 2000-12-06 |
JPH07501691A (en) | 1995-02-23 |
CA2120336C (en) | 2007-04-24 |
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Legal Events
Date | Code | Title | Description |
---|---|---|---|
EEER | Examination request | ||
MKEX | Expiry |