DK2329021T3 - Fremgangsmåder og sammensætninger til methyleringsbaseret berigelse af føtal nukleinsyre fra en maternal prøve, som er egnet til ikke-invasive prænatale diagnoser - Google Patents

Fremgangsmåder og sammensætninger til methyleringsbaseret berigelse af føtal nukleinsyre fra en maternal prøve, som er egnet til ikke-invasive prænatale diagnoser Download PDF

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DK2329021T3
DK2329021T3 DK09815148.3T DK09815148T DK2329021T3 DK 2329021 T3 DK2329021 T3 DK 2329021T3 DK 09815148 T DK09815148 T DK 09815148T DK 2329021 T3 DK2329021 T3 DK 2329021T3
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nucleic acid
fetal
dna
sample
methylation
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DK09815148.3T
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Mathias Ehrich
Anders Olof Herman Nygren
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Sequenom Inc
Sequenom Center For Molecular Medicine
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Claims (18)

1. Fremgangsmåde til bestemmelse af mængden af føtal nukleinsyre i en prøve, som omfatter: a) at bringe nukleinsyre fra en gravid kvinde, hvilken nukleinsyre omfatter føtal nukleinsyre og maternal nukleinsyre, idet kombinationen af den føtale nukleinsyre og den maternale nukleinsyre omfatter den totale nukleinsyre i prøven, i kontakt med et reagens, som specifikt nedbryder ikke-methyleret nukleinsyre, hvorved den maternale nukleinsyre nedbrydes og den føtale nukleinsyre beriges; og b) bestemmelse af mængden af føtal nukleinsyre i prøven ved at analysere mængden af føtal nukleinsyre ved adskillige loci valgt blandt SEQ ID NO's: 1-59.
2. Fremgangsmåde ifølge krav 1, hvor de adskillige loci omfatter et locus for SEQ ID NO: 42.
3. Fremgangsmåde ifølge krav 1 eller 2, hvor de adskillige loci omfatter et locus for SEQ ID NO: 52.
4. Fremgangsmåde ifølge krav 1,2 eller 3, hvor reagenset, som specifikt nedbryder ikke methyleret nukleinsyre, er et methyleringsfølsomt begrænsningsenzym.
5. Fremgangsmåde ifølge krav 4, som yderligere omfatter: (i) bestemmelse af mængden af total nukleinsyre til stede i prøven; og (ii) bestemmelse af nedbrydningseffektiviteten for reagenset.
6. Fremgangsmåde ifølge krav 4, som yderligere omfatter: (i) bestemmelse af mængden af total nukleinsyre til stede i prøven; og (ii) bestemmelse af tilstedeværet eller fraværet af Y-chromosomnukleinsyre i en prøve fra den gravide kvinde.
7. Fremgangsmåde ifølge krav 5 eller 6, hvor bestemmelsen af mængden af føtal nukleinsyre i prøven omfatter sammenligning af mængden af føtal nukleinsyre i trin (b) med den totale mængde af nukleinsyre.
8. Fremgangsmåde ifølge krav 6 eller 7, hvor mængden af Y-chromosomnukleinsyre til stede i en prøve fra den gravide kvinde bestemmes for et hankønsføtus.
9. Fremgangsmåde ifølge krav 8, hvor mængden af føtal nukleinsyre sammenlignes med mængden af Y-chromosomnukleinsyre.
10. Fremgangsmåde ifølge ethvert af kravene 1 til 9, hvor bestemmelse af mængden af føtal nukleinsyre i trin (b) omfatter indføring af én eller flere konkurrenter med kendte koncentrationer i en amplifikationsreaktion.
11. Fremgangsmåde ifølge krav 10, omfattende bestemmelse af den absolutte mængde af føtal nukleinsyre i prøven.
12. Fremgangsmåde ifølge ethvert af kravene 1 til 11, hvor bestemmelse af mængden af føtal nukleinsyre omfatter anvendelse af én eller flere processer valgt blandt massespektrometrifremgangsmåder, RT-PCR, digital PCR, arraybaserede fremgangsmåder, sekvenseringsfremgangsmåder, nanopore-baserede fremgangsmåder, nukleinsyrebundne perlebaserede tællefremgangsmåder, konkurrentbaserede fremgangsmåder og fremgangsmåder til separering af nukleinsyre under anvendelse af agenser, som binder nukleinsyre baseret på methyleringsstatus.
13. Fremgangsmåde ifølge krav 12, hvor bestemmelse af mængden af føtal nukleinsyre omfatter anvendelse af en massespektrometrifremgangsmåde.
14. Fremgangsmåde ifølge krav 13, som omfatter analyse af én eller flere massetoppe på et spektrum.
15. Fremgangsmåde ifølge krav 12, hvor bestemmelse af mængden af føtal nukleinsyre omfatter anvendelse af en sekvenseringsfremgangsmåde.
16. Fremgangsmåde ifølge krav 15, hvor sekvenseringsfremgangsmåden omfatter sekvensering ved syntese.
17. Fremgangsmåde ifølge ethvert af kravene 1 til 16, hvor mængden af føtal nukleinsyre anvendes i forbindelse med en diagnostisk fremgangsmåde til bestemmelse af et føtalt træk, hvor den diagnostiske fremgangsmåde kræver en mængde af føtal nukleinsyre for at opfylde visse kliniske følsomheds- eller specificitetskrav.
18. Fremgangsmåde ifølge krav 17, hvor det føtale træk er en føtal aneuploidi.
DK09815148.3T 2008-09-16 2009-09-16 Fremgangsmåder og sammensætninger til methyleringsbaseret berigelse af føtal nukleinsyre fra en maternal prøve, som er egnet til ikke-invasive prænatale diagnoser DK2329021T3 (da)

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US19226408P 2008-09-16 2008-09-16
PCT/US2009/057215 WO2010033639A2 (en) 2008-09-16 2009-09-16 Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

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