ES2180382A1 - Molecular diagnosis of the Gilbert syndrome consists of genomic DNA and allele based quantitative competitive amplification - Google Patents

Molecular diagnosis of the Gilbert syndrome consists of genomic DNA and allele based quantitative competitive amplification

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Publication number
ES2180382A1
ES2180382A1 ES200001770A ES200001770A ES2180382A1 ES 2180382 A1 ES2180382 A1 ES 2180382A1 ES 200001770 A ES200001770 A ES 200001770A ES 200001770 A ES200001770 A ES 200001770A ES 2180382 A1 ES2180382 A1 ES 2180382A1
Authority
ES
Spain
Prior art keywords
genomic dna
molecular diagnosis
quantitative competitive
gilbert syndrome
based quantitative
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
Application number
ES200001770A
Other languages
Spanish (es)
Other versions
ES2180382B2 (en
Inventor
Darriba Manuel Felix Camina
Villamarin Sa Rodriguez-Segade
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Universidade de Santiago de Compostela
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Universidade de Santiago de Compostela
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.)
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Publication date
Application filed by Universidade de Santiago de Compostela filed Critical Universidade de Santiago de Compostela
Priority to ES200001770A priority Critical patent/ES2180382B2/en
Publication of ES2180382A1 publication Critical patent/ES2180382A1/en
Application granted granted Critical
Publication of ES2180382B2 publication Critical patent/ES2180382B2/en
Anticipated expiration legal-status Critical
Expired - Fee Related legal-status Critical Current

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Abstract

The molecular diagnosis of the Gilbert syndrome comprises quantitative competitive amplification based on genomic DNA and three generators of a specific product of the allele with mutation and a non-specific product for the same region of the DNA. The laboratory technique increases practicability and economy.
ES200001770A 2000-07-17 2000-07-17 METHOD OF DETECTION OF A MUTATION IN THE PROMOTER OF THE GENE OF UDP-GLUCURONOSIL TRANSFERASE BILIRRUBINE, ASSOCIATED WITH THE GILBERT SYNDROME. Expired - Fee Related ES2180382B2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
ES200001770A ES2180382B2 (en) 2000-07-17 2000-07-17 METHOD OF DETECTION OF A MUTATION IN THE PROMOTER OF THE GENE OF UDP-GLUCURONOSIL TRANSFERASE BILIRRUBINE, ASSOCIATED WITH THE GILBERT SYNDROME.

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
ES200001770A ES2180382B2 (en) 2000-07-17 2000-07-17 METHOD OF DETECTION OF A MUTATION IN THE PROMOTER OF THE GENE OF UDP-GLUCURONOSIL TRANSFERASE BILIRRUBINE, ASSOCIATED WITH THE GILBERT SYNDROME.

Publications (2)

Publication Number Publication Date
ES2180382A1 true ES2180382A1 (en) 2003-02-01
ES2180382B2 ES2180382B2 (en) 2004-08-01

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ID=8494293

Family Applications (1)

Application Number Title Priority Date Filing Date
ES200001770A Expired - Fee Related ES2180382B2 (en) 2000-07-17 2000-07-17 METHOD OF DETECTION OF A MUTATION IN THE PROMOTER OF THE GENE OF UDP-GLUCURONOSIL TRANSFERASE BILIRRUBINE, ASSOCIATED WITH THE GILBERT SYNDROME.

Country Status (1)

Country Link
ES (1) ES2180382B2 (en)

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
FR2668162A1 (en) * 1990-10-17 1992-04-24 Eurobio Lab PCR probes specific for delta-F-508 mucoviscidosis mutated gene - and normal allele, useful for detection of heterozygous mucoviscidosis mutation carriers
US5972602A (en) * 1993-08-27 1999-10-26 Australian Red Cross Society Quantitative PCR-based method of gene detection

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
FR2668162A1 (en) * 1990-10-17 1992-04-24 Eurobio Lab PCR probes specific for delta-F-508 mucoviscidosis mutated gene - and normal allele, useful for detection of heterozygous mucoviscidosis mutation carriers
US5972602A (en) * 1993-08-27 1999-10-26 Australian Red Cross Society Quantitative PCR-based method of gene detection

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
G_RTLER, V. et al. "Use of double gradient donaturing gradient gel electrophoresis to detect (AT)n polymorphisms in the UDP-glucuronosyltransferase 1 gene promoter associated with Gilbert's syndrome", ELECTROPHORESIS, 1999, Vol. 20, pßginas 2841-2843. Todo el documento. *
MONAGHAM, G. et al. "Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome", THE LANCET, 1996, Vol. 347, pßginas 578-581. Todo el documento. *

Also Published As

Publication number Publication date
ES2180382B2 (en) 2004-08-01

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