CY1121234T1 - Μεθοδος για μη-επεμβατικη προγεννητικη ανιχνευση του ευπλοιδικου εμβυικου χρωμοσωματος απο το μητρικο αιμα - Google Patents
Μεθοδος για μη-επεμβατικη προγεννητικη ανιχνευση του ευπλοιδικου εμβυικου χρωμοσωματος απο το μητρικο αιμαInfo
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- CY1121234T1 CY1121234T1 CY20191100168T CY191100168T CY1121234T1 CY 1121234 T1 CY1121234 T1 CY 1121234T1 CY 20191100168 T CY20191100168 T CY 20191100168T CY 191100168 T CY191100168 T CY 191100168T CY 1121234 T1 CY1121234 T1 CY 1121234T1
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- 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
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
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- 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
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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- 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
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- Life Sciences & Earth Sciences (AREA)
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- Engineering & Computer Science (AREA)
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- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Analytical Chemistry (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- General Health & Medical Sciences (AREA)
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- Evolutionary Biology (AREA)
- Medical Informatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Organic Chemistry (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Abstract
Η παρούσα εφεύρεση παρέχει μια εναλλακτική και αξιόπιστη μέθοδο η οποία εφαρμόζεται τουλάχιστον στην πρακτική της μη επεμβατικής προγεννητικής διαλογής για ανευπλοειδίες, όπως τρισωμίες ή μονοσώματα, κατά προτίμηση για την τρισωμία του χρωμοσώματος 13, 18 ή 21. Λόγω της νέας και εφευρετικής προσέγγισης, αυτή η μέθοδος παρέχει μια εναλλακτική μέθοδο τιμής z, η οποία προσφέρει καλύτερη διάκριση μεταξύ των δειγμάτων ευπλοϊδίας και ανευπλοειδίας, δηλ. βελτιώνει την αξιοπιστία της δοκιμασίας. Επιπλέον, η μέθοδος απαιτεί σχετικά χαμηλή ποσότητα δεδομένων αλληλουχίας και ως εκ τούτου μια τέτοια μέθοδος είναι σχετικά φθηνή και θα ήταν προσιτή ακόμη και για μικρά ιδρύματα υγειονομικής περίθαλψης. Η μέθοδος περιλαμβάνει τέσσερα κύρια στάδια: 1) λήψη και επεξεργασία δειγμάτων μητρικού αίματος, 2) παρασκευή δείγματος DNA και βιβλιοθήκης DNA, 3) αλληλούχιση και 4) επεξεργασία των δεδομένων αλληλουχίας για να ληφθεί μια τιμή που έχει μια προγνωστική σημασία. Το ουσιώδες μέρος της μεθόδου είναι η προετοιμασία και η επεξεργασία των δεδομένων εκπαίδευσης, δηλ. την επεξεργασία του συνόλου των ευπλοοειδών δειγμάτων που υποβάλλονται σε επεξεργασία με τον ίδιο τρόπο όπως τα δείγματα δοκιμής. Τα αποτελέσματα της επεξεργασίας των δειγμάτων μελέτης χρησιμεύουν ως δεδομένα αναφοράς στο βήμα 4.
Applications Claiming Priority (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
PCT/EP2016/064604 WO2017220156A1 (en) | 2016-06-23 | 2016-06-23 | A method for non-invasive prenatal detection of fetal chromosome aneuploidy from maternal blood |
Publications (1)
Publication Number | Publication Date |
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CY1121234T1 true CY1121234T1 (el) | 2020-05-29 |
Family
ID=56345095
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
CY20191100168T CY1121234T1 (el) | 2016-06-23 | 2019-02-07 | Μεθοδος για μη-επεμβατικη προγεννητικη ανιχνευση του ευπλοιδικου εμβυικου χρωμοσωματος απο το μητρικο αιμα |
Country Status (14)
Country | Link |
---|---|
EP (1) | EP3283647B1 (el) |
CY (1) | CY1121234T1 (el) |
DK (1) | DK3283647T3 (el) |
EA (1) | EA201990098A1 (el) |
ES (1) | ES2708376T3 (el) |
HR (1) | HRP20190168T1 (el) |
HU (1) | HUE042012T2 (el) |
LT (1) | LT3283647T (el) |
PL (1) | PL3283647T3 (el) |
PT (1) | PT3283647T (el) |
RS (1) | RS58364B1 (el) |
RU (1) | RU2744604C2 (el) |
SI (1) | SI3283647T1 (el) |
WO (1) | WO2017220156A1 (el) |
Families Citing this family (4)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
EP2942400A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Multiplex detection of DNA that originates from a specific cell-type |
MA39951A (fr) | 2014-05-09 | 2017-03-15 | Lifecodexx Ag | Détection de l'adn provenant d'un type spécifique de cellule et méthodes associées |
EP3168309B8 (en) | 2015-11-10 | 2020-06-03 | Eurofins LifeCodexx GmbH | Detection of foetal chromosomal aneuploidies using dna regions that are differentially methylated between the foetus and the pregnant female |
CN111373054B (zh) * | 2018-05-31 | 2024-06-25 | 深圳华大临床检验中心 | 确定男性待测样本是否存在三倍体的方法、系统和计算机可读介质 |
Family Cites Families (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US20050277147A1 (en) * | 2004-06-11 | 2005-12-15 | Ameet Patki | Identifying chromosomal abnormalities in cells obtained from follicular fluid |
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2016
- 2016-06-23 EA EA201990098A patent/EA201990098A1/ru unknown
- 2016-06-23 PL PL16734594T patent/PL3283647T3/pl unknown
- 2016-06-23 DK DK16734594.1T patent/DK3283647T3/en active
- 2016-06-23 WO PCT/EP2016/064604 patent/WO2017220156A1/en active Application Filing
- 2016-06-23 RU RU2017104533A patent/RU2744604C2/ru active
- 2016-06-23 HU HUE16734594A patent/HUE042012T2/hu unknown
- 2016-06-23 PT PT16734594T patent/PT3283647T/pt unknown
- 2016-06-23 EP EP16734594.1A patent/EP3283647B1/en active Active
- 2016-06-23 LT LTEP16734594.1T patent/LT3283647T/lt unknown
- 2016-06-23 ES ES16734594T patent/ES2708376T3/es active Active
- 2016-06-23 SI SI201630178T patent/SI3283647T1/sl unknown
- 2016-06-23 RS RS20190157A patent/RS58364B1/sr unknown
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2019
- 2019-01-25 HR HRP20190168TT patent/HRP20190168T1/hr unknown
- 2019-02-07 CY CY20191100168T patent/CY1121234T1/el unknown
Also Published As
Publication number | Publication date |
---|---|
HUE042012T2 (hu) | 2019-06-28 |
PT3283647T (pt) | 2019-02-11 |
PL3283647T3 (pl) | 2019-05-31 |
RS58364B1 (sr) | 2019-03-29 |
ES2708376T3 (es) | 2019-04-09 |
EP3283647B1 (en) | 2018-11-07 |
HRP20190168T1 (hr) | 2019-03-22 |
DK3283647T3 (en) | 2018-12-17 |
EA201990098A1 (ru) | 2019-05-31 |
SI3283647T1 (sl) | 2019-03-29 |
WO2017220156A1 (en) | 2017-12-28 |
RU2017104533A (ru) | 2020-05-12 |
EP3283647A1 (en) | 2018-02-21 |
RU2744604C2 (ru) | 2021-03-11 |
LT3283647T (lt) | 2019-02-25 |
RU2017104533A3 (el) | 2020-05-12 |
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