HRP20170435T1 - Neinvazivna dijagnoza fetalne aneuploidije sekvenciranjem - Google Patents
Neinvazivna dijagnoza fetalne aneuploidije sekvenciranjem Download PDFInfo
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- HRP20170435T1 HRP20170435T1 HRP20170435TT HRP20170435T HRP20170435T1 HR P20170435 T1 HRP20170435 T1 HR P20170435T1 HR P20170435T T HRP20170435T T HR P20170435TT HR P20170435 T HRP20170435 T HR P20170435T HR P20170435 T1 HRP20170435 T1 HR P20170435T1
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- Prior art keywords
- chromosome
- marker
- sequences
- value
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- Prior art date
Links
- 230000001605 fetal effect Effects 0.000 title claims 4
- 208000036878 aneuploidy Diseases 0.000 title claims 3
- 231100001075 aneuploidy Toxicity 0.000 title claims 3
- 238000012163 sequencing technique Methods 0.000 title claims 2
- 238000003745 diagnosis Methods 0.000 title 1
- 210000000349 chromosome Anatomy 0.000 claims 28
- 239000003550 marker Substances 0.000 claims 20
- 238000000034 method Methods 0.000 claims 12
- 230000002159 abnormal effect Effects 0.000 claims 4
- 230000008774 maternal effect Effects 0.000 claims 3
- 239000000203 mixture Substances 0.000 claims 2
- 108700009124 Transcription Initiation Site Proteins 0.000 claims 1
- 238000003491 array Methods 0.000 claims 1
- 230000002759 chromosomal effect Effects 0.000 claims 1
- 238000013507 mapping Methods 0.000 claims 1
Classifications
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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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- 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
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
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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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N2800/00—Detection or diagnosis of diseases
- G01N2800/38—Pediatrics
- G01N2800/385—Congenital anomalies
- G01N2800/387—Down syndrome; Trisomy 18; Trisomy 13
Claims (12)
1. Postupak za testiranje abnormalne distribucije specifičnih dijelova kromosoma u miješanom uzorku normalno i abnormalno raspoređenih dijelova kromosoma dobivenih od subjekta, pri čemu je abnormalna distribucija fetalna aneuploidija i pri čemu je uzorak smjesa majčine i fetusne DNK u uzorku plazme majke, koji sadrži:
(a) dobivanje sekvenci, masivnim paralelnim sekvenciranjem, iz više dijelova kromosoma miješanog uzorka da bi se dobile brojne obilježavajuće sekvence dovoljne duljine određene sekvence koje se dodjeljuju lokaciji kromosoma u okviru genoma i dovoljnog broja da odražavaju abnormalni raspored specifičnih dijelova kromosoma;
(b) dodjeljivanje obilježavajućih sekvenci odgovarajućim dijelovima kromosoma uključujući barem specifični dio kromosoma uspoređivanjem obilježavajućih sekvenci s referentnom genomskom sekvencom;
(c) određivanje vrijednosti brojnih obilježavajućih sekvenci mapiranjem s normalno i abnormalno raspoređenim dijelovima kromosoma:
(i) brojanjem obilježavajućih sekvenci u okviru nizova prethodno određenih
prozora jednakih duljina u okviru barem jednog normalno raspoređenog
dijela kromosoma da bi se dobila prva vrijednost; te (ii) brojanjem obilježavajućih sekvenci u okviru nizova prethodno određenih
prozora jednakih duljina u okviru specifičnih dijelova kromosoma da bi se
dobila druga vrijednost; i
(d) upotrebu vrijednosti iz koraka (c) za određivanje razlike, između prve vrijednosti i druge vrijednosti, što je odlučujuće za prekomjernu prisutnost ili smanjenu prisutnost specifičnog dijela kromosoma u smjesi majčine i fetusne DNK.
2. Postupak prema zahtjevu 1, naznačen time da su prethodno definirani prozori dužine 10 kb do 100 kb.
3. Postupak prema zahtjevu 1, naznačen time da određivanje razlike sadrži korak uspoređivanja normalizirane gustoće obilježavajuće sekvence specifičnog kromosomskog dijela s normaliziranom gustoćom obilježavajuće sekvence drugog dijela kromosoma u navedenom miješanom uzorku, pri čemu su svi autosomi korišteni za izračunavanje normalizirane gustoće obilježavajuće sekvence.
4. Postupak prema zahtjevu 1, naznačen time da je abnormalni raspored aneuploidija barem jednog kromosoma od 13, 18 i 21; ili specifični dio kromosoma jedan od kromosoma X, Y, 18,21, 17 ili 13.
5. Postupak prema zahtjevu 1, naznačen time da korak dodjeljivanja obilježavajućih sekvenci odgovarajućim dijelovima kromosoma dozvoljava jedno neslaganje.
6. Postupak prema zahtjevu 1, naznačen time da su obilježavajuće sekvence duljine oko 25-100 bp.
7. Postupak prema zahtjevu 1 ili zahtjevu 6, naznačen time da je dobiveno barem 1 milijun obilježavajućih sekvenci.
8. Postupak prema zahtjevu 6, naznačen time da nadalje sadrži korak uspoređivanja normalizirane gustoće obilježavajuće sekvence specifičnog kromosomskog dijela s normaliziranom gustoćom obilježavajuće sekvence drugog dijela kromosoma u navedenom miješanom uzorku.
9. Postupak prema zahtjevu 8, naznačen time da korak određivanja razlike sadrži korak uspoređivanja normalizirane gustoće obilježavajuće sekvence specifičnog dijela kromosoma sa normaliziranom gustoćom obilježavajuće sekvence drugog dijela kromosoma u navedenom miješanom uzorku, pri čemu su svi autosomi korišteni za izračunavanje normalizirane gustoće obilježavajuće sekvence.
10. Postupak prema zahtjevu 1 ili zahtjevu 9 naznačen time da nadalje sadrži korak mjerenja prekomjerne ili smanjene prisutnosti kromosoma određivanjem gustoće obilježavajuće sekvence za svaki kromosom u uzorku, odnosno kromosoma 1-22, X i također kromosoma Y ukoliko je prisutan.
11. Postupak prema zahtjevu 1 naznačen time da:
navedeno određivanje razlike obuhvaća dobivanje gustoće obilježavajućih sekvenci abnormalno raspoređenih kromosoma i njezino uspoređivanje s vrijednošću disomnog kromosoma;
i/ili
navedeni prozori se sastoje od klizećih nepreklapajućih prozora od 10-100 kb koji se protežu uglavnom uzduž cijelog kromosoma; i/ili nadalje sadrži korak mjerenja brojnih obilježavajućih sekvenci u okviru transkripcijskih polaznih mjesta.
12. Postupak prema zahtjevu 1, naznačen time da sadrži:
određivanje broja obilježavajućih sekvenci mapiranih prema svakom prozoru na barem svakom autosomu;
određivanje srednje vrijednosti navedenih brojeva za svaki autosom i druge srednje vrijednosti za barem sve autosome;
izračunavanje normaliziranih vrijednosti iz svih autosoma, pomoću navedene srednje vrijednosti ; i
uspoređivanje normaliziranih vrijednosti između autosoma za određivanje bilo kojeg abnormalno raspoređenog autosomnog dijela kromosoma od interesa.
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US9875808P | 2008-09-20 | 2008-09-20 | |
EP09815105.3A EP2334812B1 (en) | 2008-09-20 | 2009-09-16 | Noninvasive diagnosis of fetal aneuploidy by sequencing |
PCT/US2009/057136 WO2010033578A2 (en) | 2008-09-20 | 2009-09-16 | Noninvasive diagnosis of fetal aneuploidy by sequencing |
Publications (1)
Publication Number | Publication Date |
---|---|
HRP20170435T1 true HRP20170435T1 (hr) | 2017-06-02 |
Family
ID=42040105
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
HRP20170435TT HRP20170435T1 (hr) | 2008-09-20 | 2017-03-17 | Neinvazivna dijagnoza fetalne aneuploidije sekvenciranjem |
HRP20170437TT HRP20170437T1 (hr) | 2008-09-20 | 2017-03-17 | Neinvazivna dijagnoza fetalne aneuploidije sekvenciranjem |
Family Applications After (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
HRP20170437TT HRP20170437T1 (hr) | 2008-09-20 | 2017-03-17 | Neinvazivna dijagnoza fetalne aneuploidije sekvenciranjem |
Country Status (17)
Country | Link |
---|---|
US (9) | US20100112575A1 (hr) |
EP (5) | EP2952589B1 (hr) |
AU (1) | AU2009293354B2 (hr) |
CA (4) | CA2737643C (hr) |
CY (2) | CY1118802T1 (hr) |
DK (2) | DK2334812T3 (hr) |
ES (2) | ES2620012T3 (hr) |
HK (1) | HK1217354A1 (hr) |
HR (2) | HRP20170435T1 (hr) |
HU (2) | HUE031849T2 (hr) |
IL (2) | IL211794A (hr) |
LT (2) | LT2562268T (hr) |
PL (2) | PL2334812T3 (hr) |
PT (2) | PT2334812T (hr) |
SG (1) | SG10201500567VA (hr) |
SI (2) | SI2334812T1 (hr) |
WO (1) | WO2010033578A2 (hr) |
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