PT2529032T - Métodos e composições para diagnóstico pré-natal não invasivo de aneuploidias fetais - Google Patents
Métodos e composições para diagnóstico pré-natal não invasivo de aneuploidias fetais Download PDFInfo
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- PT2529032T PT2529032T PT117094656T PT11709465T PT2529032T PT 2529032 T PT2529032 T PT 2529032T PT 117094656 T PT117094656 T PT 117094656T PT 11709465 T PT11709465 T PT 11709465T PT 2529032 T PT2529032 T PT 2529032T
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- 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
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- 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
- C12Q1/6804—Nucleic acid analysis using immunogens
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- 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
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- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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- 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
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
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- 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
- C12Q1/6844—Nucleic acid amplification reactions
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- 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
- C12Q2600/154—Methylation markers
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Claims (15)
- REIVINDICAÇÕES1. Método para o diagnóstico pré-natal de uma trissomia 21 utilizando uma amostra de sangue materno, compreendendo o método: a) enriquecimento do ADN metilado numa amostra de sangue materno contendo uma mistura de ADN fetal e materno por metilação por imunoprecipitação de ADN (MeDIP) para obter uma amostra enriquecida para ADN metilado; b) determinar o nível de metilação das regiões de ADN cromossómico mostrado em SEQ ID NO: 36, SEQ ID NO: 37, SEQ ID NO: 38, SEQ ID NO: 39, SEQ ID NO: 40, SEQ ID NO: 42, SEQ ID NO: 43 e SEQ ID NO: 44; c) comparação do valor de metilação das regii^s do passo (b) com um valor padronizado de metilação de referência para as referidas regiões, em que o valor padronizado de metilação de referência é (i) um valor para uma amostra de ADN de uma mulher que é portadora dum feto sem trissomia 21; ou (ii) um valor para uma amostra de ADN de uma mulher portadora de um feto com trissomia 21; d) diagnosticar uma trissomia 21 com base na referida comparação, em que a trissomia 21 é diagnosticada se o valor de metilação da amostra for (i) superior ao valor de metilação de referência padronizado de uma mulher portadora de um feto sem trissomia 21; ou ii) comparável ao valor normalizado de metilação de referência de uma mulher que é portadora dum feto com trissomia 21.
- 2. Método de acordo com a reivindicação 1, em que a amostra de sangue materno é uma amostra de sangue periférico materno ou uma porção fracionada de sangue periférico materno.
- 3. Método de acordo com a reivindicação 1 ou 2, em que o ADN metilado enriquecido é amplificado antes da realização da análise da proporção de metilação do ADN.
- 4. Método de acordo com a reivindicação 3, em que o ADN metilado é amplificado por ligação mediada por reação em cadeia da polimerase (LM-PCR) e em que os níveis das duas ou mais regiões são opcionalmente determinados numa amostra total de ADN de sangue materno não tratado como controlo de eficiência de LM-PCR.
- 5. Método de acordo com qualquer uma das reivindicações anteriores, em que os níveis das regiões da amostra enriquecida para ADN metilado são determinados por reação em cadeia da polimerase em tempo real (QPCR em tempo real).
- 6. Método de acordo com qualquer uma das reivindicações anteriores, em que o método compreende ainda a determinação da metilação de, pelo menos, uma das regiões de ADN cromossómico escolhido de entre as listas apresentadas no Apêndice A.
- 7. Método de acordo com qualquer uma das reivindicações anteriores, em que os níveis de metilação são determinados para, pelo menos, oito ou dez regiões metiladas diferencialmente (DMR).
- 8. Método de acordo com qualquer uma das reivindicações anteriores, em que o método compreende ainda a determinação da metilação de uma ou mais regiões de ADN cromossómico selecionado do grupo que consiste em SEQ ID NO: 33, SEQ ID NO: 34 e SEQ ID NO: 35.
- 9. Composição compreendendo um par/conjunto de iniciadores oligonucleotídicos que amplificam seletivamente a SEQ ID NO: 36, SEQ ID NO: 37, SEQ ID NO: 38, SEQ ID NO: 39, SEQ ID NO: 40, SEQ ID NO : 42, SEQ ID NO: 43 e SEQ ID NO: 44 .
- 10. Composição de acordo com a reivindicação 9, em que o par/conjunto de iniciadores oligonucleotídicos são selecionados de: CTGTTGCATGAGAGCAGAGG (SEQ ID NO: 7) e CGTCCCCCTCGCTACTATCT (SEQ ID NO: 8); TGCAGGATATTTGGCAAGGT (SEQ ID NO: 9) e CTGTGCCGGTAGAAATGGTT (SEQ ID NO: 10); TGAATCAGTTCACCGACAGC (SEQ ID NO: 11) e GAAACAACCTGGCCATTCTC (SEQ ID NO: 12); CCGTTATATGGATGCCTTGG (SEQ ID NO: 13) e AAACTGTTGGGCTGAACTGC (SEQ ID NO: 14); CCAGGCAAGATGGCTTATGT (SEQ ID NO: 15) e ACCATGCTCAGCCAATTTTT (SEQ ID NO: 16); GACCCAGACGATACCTGGAA (SEQ ID NO: 17) e GCTGAACAAAACTCGGCTTC (SEQ ID NO: 18); CCACATCCTGGCCATCTACT (SEQ ID NO: 19) e T T CCACAGACAGCAGAGACG (SEQ ID NO: 20); TGAGCTCACAGGTCTGGAAA (SEQ ID NO: 21) e CCCCACAGGGTTCTGGTAAT (SEQ ID NO: 22); E ATTCTCCACAGGGCAATGAG (SEQ ID NO: 23) e TTATGTGGCCTTTCCTCCTG (SEQ ID NO: 24).
- 11. Composição de acordo com a reivindicação 10, que compreende ainda um ou mais pares/conjuntos de iniciadores oligonucleotídicos selecionados de: GCTGGACCAGAAAGTGTTAGAG (SEQ ID NO: 1) e GTGTGCTGCTTTGCAATGTG (SEQ ID NO: 2); GGTCGAGTTTTTGGTGGTGT (SEQ ID NO: 3) e CCACCGTCACTGTTCCTAGA (SEQ ID NO: 4); E CCTCGTGCTCGTGTCTGTAT (SEQ ID NO: 5) e GAGGAAACAGCTTGGCTCTG (SEQ ID NO: 6).
- 12. Composição compreendendo sondas de ácido nucleico que detetam seletivamente a SEQ ID NO: 36, SEQ ID NO: 37, SEQ ID NO: 38, SEQ ID NO: 39, SEQ ID NO: 40, SEQ ID NO: 42, SEQ ID NO: 43 e SEQ ID NO: 44.
- 13. Kit compreendendo a composição de qualquer uma das reivindicações 9 a 11 e um anticorpo que imunoprecipita p ADN metilado.
- 14. Kit compreendendo a composição da reivindicação 12 e um anticorpo que imunoprecipita o ADN metilado.
- 15. Kit de acordo com a reivindicação 13 ou 14, que compreende ainda ligantes oligonucleotídicos ou outros iniciadores oligonucleotídicos para realizar a ligação mediada por reação em cadeia da polimerase (LM-PCR).
Applications Claiming Priority (2)
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---|---|---|---|
US29833910P | 2010-01-26 | 2010-01-26 | |
US40542110P | 2010-10-21 | 2010-10-21 |
Publications (1)
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PT2529032T true PT2529032T (pt) | 2017-05-04 |
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Application Number | Title | Priority Date | Filing Date |
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PT117094656T PT2529032T (pt) | 2010-01-26 | 2011-01-26 | Métodos e composições para diagnóstico pré-natal não invasivo de aneuploidias fetais |
Country Status (17)
Country | Link |
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US (1) | US9249462B2 (pt) |
EP (1) | EP2529032B1 (pt) |
JP (1) | JP2013517789A (pt) |
KR (1) | KR20120107512A (pt) |
CN (1) | CN102892899A (pt) |
AU (1) | AU2011210255B2 (pt) |
BR (1) | BR112012018458A2 (pt) |
CA (1) | CA2786174A1 (pt) |
CY (1) | CY1118864T1 (pt) |
DK (1) | DK2529032T3 (pt) |
EA (1) | EA023565B1 (pt) |
ES (1) | ES2623156T3 (pt) |
NZ (1) | NZ601079A (pt) |
PL (1) | PL2529032T3 (pt) |
PT (1) | PT2529032T (pt) |
SG (1) | SG182322A1 (pt) |
WO (1) | WO2011092592A2 (pt) |
Families Citing this family (32)
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US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
CA2878979C (en) | 2012-07-13 | 2021-09-14 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
MX360034B (es) | 2012-09-20 | 2018-10-19 | Univ Hong Kong Chinese | Determinacion no invasiva del metiloma fetal o de tumor de plasma. |
US10706957B2 (en) | 2012-09-20 | 2020-07-07 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of tumor from plasma |
US9732390B2 (en) | 2012-09-20 | 2017-08-15 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of fetus or tumor from plasma |
US20150275300A1 (en) * | 2012-09-26 | 2015-10-01 | Agency For Science, Technology And Research | Biomarkers for down syndrome prenatal diagnosis |
US11060145B2 (en) | 2013-03-13 | 2021-07-13 | Sequenom, Inc. | Methods and compositions for identifying presence or absence of hypermethylation or hypomethylation locus |
KR20140118682A (ko) | 2013-03-29 | 2014-10-08 | (주)셀트리온 | 2 이상의 인플루엔자 a 바이러스 중화 결합 분자를 포함하는 조성물 |
US11365447B2 (en) | 2014-03-13 | 2022-06-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
RU2583830C2 (ru) * | 2014-04-21 | 2016-05-10 | Закрытое акционерное общество "Геноаналитика" | Способ неинвазивной пренатальной диагностики анеуплоидий плода |
US10801067B2 (en) * | 2014-05-09 | 2020-10-13 | Eurofins Lifecodexx Gmbh | Detection of DNA that originates from a specific cell-type and related methods |
EP2942401A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Detection of DNA that originates from a specific cell-type |
EP2942400A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Multiplex detection of DNA that originates from a specific cell-type |
US20180187267A1 (en) * | 2017-01-05 | 2018-07-05 | Michael J. Powell | Method for conducting early detection of colon cancer and/or of colon cancer precursor cells and for monitoring colon cancer recurrence |
US10174383B2 (en) * | 2014-08-13 | 2019-01-08 | Vanadis Diagnostics | Method of estimating the amount of a methylated locus in a sample |
WO2016176846A1 (zh) * | 2015-05-06 | 2016-11-10 | 安诺优达基因科技(北京)有限公司 | 检测染色体非整倍性的试剂盒、装置和方法 |
CA2986200A1 (en) | 2015-05-22 | 2016-12-01 | Nipd Genetics Public Company Limited | Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing |
DK3168309T3 (da) | 2015-11-10 | 2020-06-22 | Eurofins Lifecodexx Gmbh | Detektion af føtale kromosomale aneuploidier under anvendelse af dna-regioner med forskellig metylering mellem fosteret og det gravide hunkøn |
US20180357366A1 (en) * | 2015-12-04 | 2018-12-13 | Green Cross Genome Corporation | Method for determining copy-number variation in sample comprising mixture of nucleic acids |
KR101817180B1 (ko) * | 2016-01-20 | 2018-01-10 | 이원다이애그노믹스(주) | 염색체 이상 판단 방법 |
EP3885447B1 (en) | 2016-05-30 | 2024-01-10 | The Chinese University Of Hong Kong | Detecting hematological disorders using cell-free dna in blood |
CN109112209B (zh) * | 2017-06-25 | 2022-06-24 | 国家卫生计生委科学技术研究所 | 用于无创产前检测胎儿非整倍体染色体的参考品 |
TWI834642B (zh) | 2018-03-13 | 2024-03-11 | 美商格瑞爾有限責任公司 | 異常片段偵測及分類 |
KR20200060969A (ko) | 2018-11-23 | 2020-06-02 | (주)셀트리온 | 인플루엔자 바이러스 질환을 치료하기 위한 투여 요법 |
WO2021198726A1 (en) * | 2020-03-30 | 2021-10-07 | Vilnius University | Methods and compositions for noninvasive prenatal diagnosis through targeted covalent labeling of genomic sites |
KR102332540B1 (ko) * | 2020-07-02 | 2021-11-29 | 의료법인 성광의료재단 | 다운증후군 특이적인 후성학적 마커를 이용한 다운증후군 진단 방법 |
WO2023133572A2 (en) * | 2022-01-10 | 2023-07-13 | Washington State University | Dna methylation biomarkers for preterm birth |
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US6582908B2 (en) * | 1990-12-06 | 2003-06-24 | Affymetrix, Inc. | Oligonucleotides |
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2011
- 2011-01-26 ES ES11709465.6T patent/ES2623156T3/es active Active
- 2011-01-26 BR BR112012018458A patent/BR112012018458A2/pt not_active IP Right Cessation
- 2011-01-26 DK DK11709465.6T patent/DK2529032T3/en active
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- 2011-01-26 EA EA201290716A patent/EA023565B1/ru not_active IP Right Cessation
- 2011-01-26 SG SG2012049003A patent/SG182322A1/en unknown
- 2011-01-26 CN CN2011800097571A patent/CN102892899A/zh active Pending
- 2011-01-26 US US13/520,708 patent/US9249462B2/en active Active
- 2011-01-26 WO PCT/IB2011/000217 patent/WO2011092592A2/en active Application Filing
- 2011-01-26 JP JP2012550529A patent/JP2013517789A/ja active Pending
- 2011-01-26 PT PT117094656T patent/PT2529032T/pt unknown
- 2011-01-26 EP EP11709465.6A patent/EP2529032B1/en active Active
- 2011-01-26 CA CA2786174A patent/CA2786174A1/en not_active Abandoned
- 2011-01-26 KR KR1020127020832A patent/KR20120107512A/ko not_active Application Discontinuation
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Also Published As
Publication number | Publication date |
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ES2623156T3 (es) | 2017-07-10 |
EA023565B1 (ru) | 2016-06-30 |
JP2013517789A (ja) | 2013-05-20 |
EA201290716A1 (ru) | 2013-06-28 |
SG182322A1 (en) | 2012-08-30 |
PL2529032T3 (pl) | 2017-07-31 |
BR112012018458A2 (pt) | 2018-07-10 |
WO2011092592A2 (en) | 2011-08-04 |
US20120282613A1 (en) | 2012-11-08 |
CN102892899A (zh) | 2013-01-23 |
US9249462B2 (en) | 2016-02-02 |
AU2011210255B2 (en) | 2014-11-20 |
WO2011092592A3 (en) | 2011-11-03 |
DK2529032T3 (en) | 2017-05-01 |
CA2786174A1 (en) | 2011-08-04 |
EP2529032B1 (en) | 2017-01-25 |
EP2529032A2 (en) | 2012-12-05 |
AU2011210255A1 (en) | 2012-07-26 |
KR20120107512A (ko) | 2012-10-02 |
NZ601079A (en) | 2014-08-29 |
CY1118864T1 (el) | 2018-01-10 |
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