KR20120107512A - 태아 이수성의 비침해성 출생전 진단을 위한 방법과 조성물 - Google Patents
태아 이수성의 비침해성 출생전 진단을 위한 방법과 조성물 Download PDFInfo
- Publication number
- KR20120107512A KR20120107512A KR1020127020832A KR20127020832A KR20120107512A KR 20120107512 A KR20120107512 A KR 20120107512A KR 1020127020832 A KR1020127020832 A KR 1020127020832A KR 20127020832 A KR20127020832 A KR 20127020832A KR 20120107512 A KR20120107512 A KR 20120107512A
- Authority
- KR
- South Korea
- Prior art keywords
- seq
- dna
- base pair
- sample
- chromosome
- 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.)
- Withdrawn
Links
- 238000000034 method Methods 0.000 title claims abstract description 115
- 230000001605 fetal effect Effects 0.000 title claims abstract description 98
- 208000036878 aneuploidy Diseases 0.000 title claims abstract description 27
- 239000000203 mixture Substances 0.000 title claims abstract description 26
- 238000003793 prenatal diagnosis Methods 0.000 title claims abstract description 26
- 231100001075 aneuploidy Toxicity 0.000 title claims abstract description 24
- 230000008774 maternal effect Effects 0.000 claims abstract description 93
- 210000004369 blood Anatomy 0.000 claims abstract description 59
- 239000008280 blood Substances 0.000 claims abstract description 59
- 238000001114 immunoprecipitation Methods 0.000 claims abstract description 19
- 210000000349 chromosome Anatomy 0.000 claims description 144
- 201000010374 Down Syndrome Diseases 0.000 claims description 115
- 206010044688 Trisomy 21 Diseases 0.000 claims description 112
- 210000005259 peripheral blood Anatomy 0.000 claims description 106
- 239000011886 peripheral blood Substances 0.000 claims description 106
- 239000013615 primer Substances 0.000 claims description 87
- 230000011987 methylation Effects 0.000 claims description 77
- 238000007069 methylation reaction Methods 0.000 claims description 77
- 230000006607 hypermethylation Effects 0.000 claims description 74
- 230000003169 placental effect Effects 0.000 claims description 66
- 108020004414 DNA Proteins 0.000 claims description 51
- 238000003752 polymerase chain reaction Methods 0.000 claims description 33
- 238000003745 diagnosis Methods 0.000 claims description 24
- 239000003155 DNA primer Substances 0.000 claims description 20
- 108020004707 nucleic acids Proteins 0.000 claims description 20
- 150000007523 nucleic acids Chemical class 0.000 claims description 20
- 102000039446 nucleic acids Human genes 0.000 claims description 20
- 238000000926 separation method Methods 0.000 claims description 20
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 12
- 239000002773 nucleotide Substances 0.000 claims description 12
- 125000003729 nucleotide group Chemical group 0.000 claims description 12
- 230000001404 mediated effect Effects 0.000 claims description 9
- 108091034117 Oligonucleotide Proteins 0.000 claims description 8
- 238000003753 real-time PCR Methods 0.000 claims description 8
- 208000037280 Trisomy Diseases 0.000 claims description 7
- 210000001766 X chromosome Anatomy 0.000 claims description 6
- 210000002593 Y chromosome Anatomy 0.000 claims description 6
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 claims description 3
- 101000829958 Homo sapiens N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase Proteins 0.000 claims description 2
- 102100023315 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase Human genes 0.000 claims description 2
- 239000000539 dimer Substances 0.000 claims description 2
- 239000012133 immunoprecipitate Substances 0.000 claims description 2
- 208000030454 monosomy Diseases 0.000 claims description 2
- 230000035935 pregnancy Effects 0.000 abstract description 24
- 239000000523 sample Substances 0.000 description 145
- 210000002826 placenta Anatomy 0.000 description 48
- 238000012360 testing method Methods 0.000 description 45
- 238000013459 approach Methods 0.000 description 35
- 238000004458 analytical method Methods 0.000 description 29
- 210000003754 fetus Anatomy 0.000 description 29
- 238000011529 RT qPCR Methods 0.000 description 28
- 238000002405 diagnostic procedure Methods 0.000 description 28
- 238000006243 chemical reaction Methods 0.000 description 22
- 230000007067 DNA methylation Effects 0.000 description 19
- 238000002966 oligonucleotide array Methods 0.000 description 18
- 241000282414 Homo sapiens Species 0.000 description 17
- 208000036830 Normal foetus Diseases 0.000 description 16
- 108090000623 proteins and genes Proteins 0.000 description 13
- 101100243950 Arabidopsis thaliana PIE1 gene Proteins 0.000 description 12
- 238000011161 development Methods 0.000 description 12
- 239000012634 fragment Substances 0.000 description 12
- 230000002159 abnormal effect Effects 0.000 description 11
- 238000010606 normalization Methods 0.000 description 11
- 238000007619 statistical method Methods 0.000 description 11
- 238000012216 screening Methods 0.000 description 10
- 238000010200 validation analysis Methods 0.000 description 10
- 108700039691 Genetic Promoter Regions Proteins 0.000 description 9
- 230000003321 amplification Effects 0.000 description 9
- 238000010586 diagram Methods 0.000 description 9
- 238000002474 experimental method Methods 0.000 description 9
- 230000002093 peripheral effect Effects 0.000 description 9
- 238000000746 purification Methods 0.000 description 9
- 239000000872 buffer Substances 0.000 description 8
- 230000002759 chromosomal effect Effects 0.000 description 8
- 239000000047 product Substances 0.000 description 8
- 230000035945 sensitivity Effects 0.000 description 8
- 108091029523 CpG island Proteins 0.000 description 7
- 238000011156 evaluation Methods 0.000 description 7
- 238000003199 nucleic acid amplification method Methods 0.000 description 7
- 108091008146 restriction endonucleases Proteins 0.000 description 7
- YBJHBAHKTGYVGT-ZKWXMUAHSA-N (+)-Biotin Chemical compound N1C(=O)N[C@@H]2[C@H](CCCCC(=O)O)SC[C@@H]21 YBJHBAHKTGYVGT-ZKWXMUAHSA-N 0.000 description 6
- 238000003556 assay Methods 0.000 description 6
- 230000001419 dependent effect Effects 0.000 description 6
- 238000001514 detection method Methods 0.000 description 6
- 239000012153 distilled water Substances 0.000 description 6
- XLYOFNOQVPJJNP-UHFFFAOYSA-N water Chemical compound O XLYOFNOQVPJJNP-UHFFFAOYSA-N 0.000 description 6
- 108010005173 SERPIN-B5 Proteins 0.000 description 5
- 101100232707 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) HYP2 gene Proteins 0.000 description 5
- 102100030333 Serpin B5 Human genes 0.000 description 5
- DWAQJAXMDSEUJJ-UHFFFAOYSA-M Sodium bisulfite Chemical compound [Na+].OS([O-])=O DWAQJAXMDSEUJJ-UHFFFAOYSA-M 0.000 description 5
- 238000013467 fragmentation Methods 0.000 description 5
- 238000006062 fragmentation reaction Methods 0.000 description 5
- 238000009396 hybridization Methods 0.000 description 5
- 238000007854 ligation-mediated PCR Methods 0.000 description 5
- 235000010267 sodium hydrogen sulphite Nutrition 0.000 description 5
- 238000000527 sonication Methods 0.000 description 5
- 102000012410 DNA Ligases Human genes 0.000 description 4
- 108010061982 DNA Ligases Proteins 0.000 description 4
- 238000000585 Mann–Whitney U test Methods 0.000 description 4
- 238000012408 PCR amplification Methods 0.000 description 4
- 238000000137 annealing Methods 0.000 description 4
- 238000011835 investigation Methods 0.000 description 4
- 238000001556 precipitation Methods 0.000 description 4
- 238000011002 quantification Methods 0.000 description 4
- 230000004044 response Effects 0.000 description 4
- 239000000243 solution Substances 0.000 description 4
- 208000036646 First trimester pregnancy Diseases 0.000 description 3
- JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-hydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methyl [5-(6-aminopurin-9-yl)-2-(hydroxymethyl)oxolan-3-yl] hydrogen phosphate Polymers Cc1cn(C2CC(OP(O)(=O)OCC3OC(CC3OP(O)(=O)OCC3OC(CC3O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c3nc(N)[nH]c4=O)C(COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3CO)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cc(C)c(=O)[nH]c3=O)n3cc(C)c(=O)[nH]c3=O)n3ccc(N)nc3=O)n3cc(C)c(=O)[nH]c3=O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)O2)c(=O)[nH]c1=O JLCPHMBAVCMARE-UHFFFAOYSA-N 0.000 description 3
- 238000003491 array Methods 0.000 description 3
- 230000008901 benefit Effects 0.000 description 3
- 229960002685 biotin Drugs 0.000 description 3
- 235000020958 biotin Nutrition 0.000 description 3
- 239000011616 biotin Substances 0.000 description 3
- 238000004422 calculation algorithm Methods 0.000 description 3
- 238000004364 calculation method Methods 0.000 description 3
- 210000004252 chorionic villi Anatomy 0.000 description 3
- 238000007405 data analysis Methods 0.000 description 3
- 238000004925 denaturation Methods 0.000 description 3
- 230000036425 denaturation Effects 0.000 description 3
- 238000013461 design Methods 0.000 description 3
- 230000001973 epigenetic effect Effects 0.000 description 3
- 238000011880 melting curve analysis Methods 0.000 description 3
- 238000005070 sampling Methods 0.000 description 3
- 239000007787 solid Substances 0.000 description 3
- 238000000528 statistical test Methods 0.000 description 3
- LRSASMSXMSNRBT-UHFFFAOYSA-N 5-methylcytosine Chemical compound CC1=CNC(=O)N=C1N LRSASMSXMSNRBT-UHFFFAOYSA-N 0.000 description 2
- 206010000234 Abortion spontaneous Diseases 0.000 description 2
- 108090001008 Avidin Proteins 0.000 description 2
- 102000016928 DNA-directed DNA polymerase Human genes 0.000 description 2
- 108010014303 DNA-directed DNA polymerase Proteins 0.000 description 2
- 208000036818 High risk pregnancy Diseases 0.000 description 2
- 238000010818 SYBR green PCR Master Mix Methods 0.000 description 2
- 108010090804 Streptavidin Proteins 0.000 description 2
- ISAKRJDGNUQOIC-UHFFFAOYSA-N Uracil Chemical compound O=C1C=CNC(=O)N1 ISAKRJDGNUQOIC-UHFFFAOYSA-N 0.000 description 2
- 101000832077 Xenopus laevis Dapper 1-A Proteins 0.000 description 2
- 239000002253 acid Substances 0.000 description 2
- 150000007513 acids Chemical class 0.000 description 2
- 210000004381 amniotic fluid Anatomy 0.000 description 2
- 230000003322 aneuploid effect Effects 0.000 description 2
- 239000011324 bead Substances 0.000 description 2
- 230000008859 change Effects 0.000 description 2
- 239000003153 chemical reaction reagent Substances 0.000 description 2
- 239000013611 chromosomal DNA Substances 0.000 description 2
- 238000003776 cleavage reaction Methods 0.000 description 2
- 238000012790 confirmation Methods 0.000 description 2
- 238000011157 data evaluation Methods 0.000 description 2
- 238000010790 dilution Methods 0.000 description 2
- 239000012895 dilution Substances 0.000 description 2
- 238000010828 elution Methods 0.000 description 2
- 238000005516 engineering process Methods 0.000 description 2
- 238000010438 heat treatment Methods 0.000 description 2
- 238000011534 incubation Methods 0.000 description 2
- 238000013507 mapping Methods 0.000 description 2
- 239000003550 marker Substances 0.000 description 2
- 239000000463 material Substances 0.000 description 2
- 238000005259 measurement Methods 0.000 description 2
- 208000015994 miscarriage Diseases 0.000 description 2
- 238000009598 prenatal testing Methods 0.000 description 2
- 239000011541 reaction mixture Substances 0.000 description 2
- 238000011160 research Methods 0.000 description 2
- 238000012552 review Methods 0.000 description 2
- 230000007017 scission Effects 0.000 description 2
- 238000013207 serial dilution Methods 0.000 description 2
- 208000000995 spontaneous abortion Diseases 0.000 description 2
- 238000010561 standard procedure Methods 0.000 description 2
- 238000010972 statistical evaluation Methods 0.000 description 2
- 239000000126 substance Substances 0.000 description 2
- 238000005382 thermal cycling Methods 0.000 description 2
- 210000001519 tissue Anatomy 0.000 description 2
- 230000009466 transformation Effects 0.000 description 2
- 238000011144 upstream manufacturing Methods 0.000 description 2
- 238000012795 verification Methods 0.000 description 2
- 229920000936 Agarose Polymers 0.000 description 1
- LSNNMFCWUKXFEE-UHFFFAOYSA-M Bisulfite Chemical compound OS([O-])=O LSNNMFCWUKXFEE-UHFFFAOYSA-M 0.000 description 1
- 230000004544 DNA amplification Effects 0.000 description 1
- 238000007399 DNA isolation Methods 0.000 description 1
- KCXVZYZYPLLWCC-UHFFFAOYSA-N EDTA Chemical compound OC(=O)CN(CC(O)=O)CCN(CC(O)=O)CC(O)=O KCXVZYZYPLLWCC-UHFFFAOYSA-N 0.000 description 1
- 208000036626 Mental retardation Diseases 0.000 description 1
- 238000001367 Mood's median test Methods 0.000 description 1
- 108020005187 Oligonucleotide Probes Proteins 0.000 description 1
- 238000009004 PCR Kit Methods 0.000 description 1
- 208000006399 Premature Obstetric Labor Diseases 0.000 description 1
- 208000036645 Third trimester pregnancy Diseases 0.000 description 1
- 230000005856 abnormality Effects 0.000 description 1
- 238000000246 agarose gel electrophoresis Methods 0.000 description 1
- 230000004075 alteration Effects 0.000 description 1
- 238000002669 amniocentesis Methods 0.000 description 1
- 230000036592 analgesia Effects 0.000 description 1
- 238000011948 assay development Methods 0.000 description 1
- 230000003190 augmentative effect Effects 0.000 description 1
- 239000012148 binding buffer Substances 0.000 description 1
- 238000001369 bisulfite sequencing Methods 0.000 description 1
- 238000004159 blood analysis Methods 0.000 description 1
- 230000036772 blood pressure Effects 0.000 description 1
- 230000015556 catabolic process Effects 0.000 description 1
- 238000000546 chi-square test Methods 0.000 description 1
- 230000035606 childbirth Effects 0.000 description 1
- 238000004590 computer program Methods 0.000 description 1
- 238000010276 construction Methods 0.000 description 1
- 230000002596 correlated effect Effects 0.000 description 1
- 230000000875 corresponding effect Effects 0.000 description 1
- 238000013211 curve analysis Methods 0.000 description 1
- 230000002559 cytogenic effect Effects 0.000 description 1
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical class NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 description 1
- 238000006731 degradation reaction Methods 0.000 description 1
- 238000012217 deletion Methods 0.000 description 1
- 230000037430 deletion Effects 0.000 description 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 1
- 208000035475 disorder Diseases 0.000 description 1
- GRWZHXKQBITJKP-UHFFFAOYSA-L dithionite(2-) Chemical compound [O-]S(=O)S([O-])=O GRWZHXKQBITJKP-UHFFFAOYSA-L 0.000 description 1
- 230000000694 effects Effects 0.000 description 1
- 210000002257 embryonic structure Anatomy 0.000 description 1
- 230000001747 exhibiting effect Effects 0.000 description 1
- 231100000562 fetal loss Toxicity 0.000 description 1
- 239000007850 fluorescent dye Substances 0.000 description 1
- 238000005194 fractionation Methods 0.000 description 1
- 230000004927 fusion Effects 0.000 description 1
- 238000012252 genetic analysis Methods 0.000 description 1
- 230000002068 genetic effect Effects 0.000 description 1
- 210000003917 human chromosome Anatomy 0.000 description 1
- 229940079826 hydrogen sulfite Drugs 0.000 description 1
- 230000006872 improvement Effects 0.000 description 1
- 238000002955 isolation Methods 0.000 description 1
- 230000005291 magnetic effect Effects 0.000 description 1
- 239000011159 matrix material Substances 0.000 description 1
- 238000007855 methylation-specific PCR Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 238000012544 monitoring process Methods 0.000 description 1
- 238000007481 next generation sequencing Methods 0.000 description 1
- 239000002751 oligonucleotide probe Substances 0.000 description 1
- 238000005457 optimization Methods 0.000 description 1
- 230000005298 paramagnetic effect Effects 0.000 description 1
- 230000003389 potentiating effect Effects 0.000 description 1
- 201000011461 pre-eclampsia Diseases 0.000 description 1
- 102000004169 proteins and genes Human genes 0.000 description 1
- 230000009467 reduction Effects 0.000 description 1
- 238000012163 sequencing technique Methods 0.000 description 1
- 210000002966 serum Anatomy 0.000 description 1
- 238000010008 shearing Methods 0.000 description 1
- YNJBWRMUSHSURL-UHFFFAOYSA-N trichloroacetic acid Chemical compound OC(=O)C(Cl)(Cl)Cl YNJBWRMUSHSURL-UHFFFAOYSA-N 0.000 description 1
- 238000001521 two-tailed test Methods 0.000 description 1
- 229940035893 uracil Drugs 0.000 description 1
Images
Classifications
-
- 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
-
- 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
- C12Q1/6804—Nucleic acid analysis using immunogens
-
- 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
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
-
- 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
-
- 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
- C12Q1/6844—Nucleic acid amplification reactions
-
- 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
- C12Q2600/154—Methylation markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Health & Medical Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Engineering & Computer Science (AREA)
- Analytical Chemistry (AREA)
- Immunology (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Microbiology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Pathology (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Applications Claiming Priority (4)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US29833910P | 2010-01-26 | 2010-01-26 | |
| US61/298,339 | 2010-01-26 | ||
| US40542110P | 2010-10-21 | 2010-10-21 | |
| US61/405,421 | 2010-10-21 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| KR20120107512A true KR20120107512A (ko) | 2012-10-02 |
Family
ID=44278821
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| KR1020127020832A Withdrawn KR20120107512A (ko) | 2010-01-26 | 2011-01-26 | 태아 이수성의 비침해성 출생전 진단을 위한 방법과 조성물 |
Country Status (17)
| Country | Link |
|---|---|
| US (1) | US9249462B2 (enExample) |
| EP (1) | EP2529032B1 (enExample) |
| JP (1) | JP2013517789A (enExample) |
| KR (1) | KR20120107512A (enExample) |
| CN (1) | CN102892899A (enExample) |
| AU (1) | AU2011210255B2 (enExample) |
| BR (1) | BR112012018458A2 (enExample) |
| CA (1) | CA2786174A1 (enExample) |
| CY (1) | CY1118864T1 (enExample) |
| DK (1) | DK2529032T3 (enExample) |
| EA (1) | EA023565B1 (enExample) |
| ES (1) | ES2623156T3 (enExample) |
| NZ (1) | NZ601079A (enExample) |
| PL (1) | PL2529032T3 (enExample) |
| PT (1) | PT2529032T (enExample) |
| SG (1) | SG182322A1 (enExample) |
| WO (1) | WO2011092592A2 (enExample) |
Cited By (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2014158001A1 (ko) | 2013-03-29 | 2014-10-02 | (주)셀트리온 | 2 이상의 인플루엔자 a 바이러스 중화 결합 분자를 포함하는 조성물 |
| WO2020106116A1 (ko) | 2018-11-23 | 2020-05-28 | (주)셀트리온 | 인플루엔자 바이러스 질환을 치료하기 위한 투여 요법 |
Families Citing this family (34)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN101153336B (zh) | 2006-09-27 | 2011-09-07 | 香港中文大学 | 检测dna甲基化程度的方法和试剂盒 |
| US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| US8962247B2 (en) | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
| EP2516680B1 (en) | 2009-12-22 | 2016-04-06 | Sequenom, Inc. | Processes and kits for identifying aneuploidy |
| US9605313B2 (en) | 2012-03-02 | 2017-03-28 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP2872648B1 (en) | 2012-07-13 | 2019-09-04 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| 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 |
| US10706957B2 (en) | 2012-09-20 | 2020-07-07 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of tumor from plasma |
| FI4056712T3 (fi) * | 2012-09-20 | 2024-08-29 | Univ Hong Kong Chinese | Kasvaimen metyloomin nonivasiivinen määrittäminen plasmasta |
| CN104838013A (zh) * | 2012-09-26 | 2015-08-12 | 新加坡科技研究局 | 用于唐氏综合症产前诊断的生物标志物 |
| EP3597774A1 (en) | 2013-03-13 | 2020-01-22 | Sequenom, Inc. | Primers for dna methylation analysis |
| EP3117011B1 (en) | 2014-03-13 | 2020-05-06 | 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 |
| 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 |
| EP3521454A1 (en) | 2014-05-09 | 2019-08-07 | LifeCodexx AG | Detection of dna that originates from a specific cell-type and related methods |
| 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 |
| WO2016189388A1 (en) | 2015-05-22 | 2016-12-01 | Nipd Genetics Ltd | 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 |
| SG11201804651XA (en) * | 2015-12-04 | 2018-07-30 | Green Cross Genome Corp | 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 |
| US10781490B2 (en) | 2016-05-30 | 2020-09-22 | 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 |
| US12027237B2 (en) | 2018-03-13 | 2024-07-02 | Grail, Llc | Anomalous fragment detection and classification |
| US12234514B2 (en) | 2018-12-21 | 2025-02-25 | Grail, Inc. | Source of origin deconvolution based on methylation fragments in cell-free DNA samples |
| US20230151409A1 (en) * | 2020-03-30 | 2023-05-18 | 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 |
| US20250079015A1 (en) * | 2022-01-10 | 2025-03-06 | Washington State University | Dna methylation biomarkers for preterm birth |
| WO2024216205A1 (en) * | 2023-04-14 | 2024-10-17 | Adela, Inc. | Methods and systems for cell-free nucleic acid processing |
| WO2025179073A1 (en) * | 2024-02-21 | 2025-08-28 | Adela, Inc. | Methods and systems for tissue informed differentially methylated region analysis |
Family Cites Families (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6582908B2 (en) * | 1990-12-06 | 2003-06-24 | Affymetrix, Inc. | Oligonucleotides |
| JP5013869B2 (ja) * | 2003-09-22 | 2012-08-29 | トリソゲン バイオテクノロジー リミテッド パートナーシップ | 遺伝子座コピー数の変化を検出するのに有用な方法およびキット |
| US20050282213A1 (en) | 2003-09-22 | 2005-12-22 | Trisogen Biotechnology Limited Partnership | Methods and kits useful for detecting an alteration in a locus copy number |
| GB0413688D0 (en) | 2004-06-18 | 2004-07-21 | Novartis Forschungsstiftung | Analysis of methylated nucleic acid |
| AU2005308918B2 (en) | 2004-11-29 | 2012-09-27 | Sequenom, Inc. | Means and methods for detecting methylated DNA |
| WO2007044780A2 (en) | 2005-10-07 | 2007-04-19 | Emory University | Methods and systems for screening for and diagnosing dna methylation associated abnormalities and sex chromosome aneuploidies |
| US7901884B2 (en) * | 2006-05-03 | 2011-03-08 | The Chinese University Of Hong Kong | Markers for prenatal diagnosis and monitoring |
| EP3892736A1 (en) | 2007-07-23 | 2021-10-13 | The Chinese University of Hong Kong | Determining a nucleic acid sequence imbalance |
| JP5322471B2 (ja) | 2008-03-27 | 2013-10-23 | シスメックス株式会社 | メチル化dnaの解析方法及びプライマーセット |
| US8476013B2 (en) * | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
-
2011
- 2011-01-26 NZ NZ601079A patent/NZ601079A/en unknown
- 2011-01-26 AU AU2011210255A patent/AU2011210255B2/en active Active
- 2011-01-26 EP EP11709465.6A patent/EP2529032B1/en active Active
- 2011-01-26 CN CN2011800097571A patent/CN102892899A/zh active Pending
- 2011-01-26 PT PT117094656T patent/PT2529032T/pt unknown
- 2011-01-26 ES ES11709465.6T patent/ES2623156T3/es active Active
- 2011-01-26 KR KR1020127020832A patent/KR20120107512A/ko not_active Withdrawn
- 2011-01-26 EA EA201290716A patent/EA023565B1/ru not_active IP Right Cessation
- 2011-01-26 DK DK11709465.6T patent/DK2529032T3/en active
- 2011-01-26 PL PL11709465T patent/PL2529032T3/pl unknown
- 2011-01-26 CA CA2786174A patent/CA2786174A1/en not_active Abandoned
- 2011-01-26 JP JP2012550529A patent/JP2013517789A/ja active Pending
- 2011-01-26 SG SG2012049003A patent/SG182322A1/en unknown
- 2011-01-26 BR BR112012018458A patent/BR112012018458A2/pt not_active IP Right Cessation
- 2011-01-26 US US13/520,708 patent/US9249462B2/en active Active
- 2011-01-26 WO PCT/IB2011/000217 patent/WO2011092592A2/en not_active Ceased
-
2017
- 2017-04-21 CY CY20171100452T patent/CY1118864T1/el unknown
Cited By (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2014158001A1 (ko) | 2013-03-29 | 2014-10-02 | (주)셀트리온 | 2 이상의 인플루엔자 a 바이러스 중화 결합 분자를 포함하는 조성물 |
| US10703802B2 (en) | 2013-03-29 | 2020-07-07 | Celltrion, Inc. | Composition comprising at least two influenza A virus-neutralizing-binding molecules |
| WO2020106116A1 (ko) | 2018-11-23 | 2020-05-28 | (주)셀트리온 | 인플루엔자 바이러스 질환을 치료하기 위한 투여 요법 |
Also Published As
| Publication number | Publication date |
|---|---|
| WO2011092592A3 (en) | 2011-11-03 |
| BR112012018458A2 (pt) | 2018-07-10 |
| CN102892899A (zh) | 2013-01-23 |
| PL2529032T3 (pl) | 2017-07-31 |
| US9249462B2 (en) | 2016-02-02 |
| CA2786174A1 (en) | 2011-08-04 |
| NZ601079A (en) | 2014-08-29 |
| US20120282613A1 (en) | 2012-11-08 |
| PT2529032T (pt) | 2017-05-04 |
| SG182322A1 (en) | 2012-08-30 |
| ES2623156T3 (es) | 2017-07-10 |
| JP2013517789A (ja) | 2013-05-20 |
| WO2011092592A2 (en) | 2011-08-04 |
| EA201290716A1 (ru) | 2013-06-28 |
| AU2011210255A1 (en) | 2012-07-26 |
| EP2529032B1 (en) | 2017-01-25 |
| AU2011210255B2 (en) | 2014-11-20 |
| EA023565B1 (ru) | 2016-06-30 |
| CY1118864T1 (el) | 2018-01-10 |
| EP2529032A2 (en) | 2012-12-05 |
| DK2529032T3 (en) | 2017-05-01 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US9249462B2 (en) | Methods and compositions for noninvasive prenatal diagnosis of fetal aneuploidies | |
| Pös et al. | Recent trends in prenatal genetic screening and testing | |
| JP2023033606A (ja) | 非侵襲的出生前診断に有用な母体試料由来の胎児核酸のメチル化に基づく富化のためのプロセスおよび組成物 | |
| US10767228B2 (en) | Fetal chromosomal aneuploidy diagnosis | |
| US20200208212A1 (en) | Processes and Compositions for Methylation-Based Enrichment of Fetal Nucleic Acid From a Maternal Sample Useful for Non-Invasive Prenatal Diagnoses | |
| CA3029497C (en) | Determining a nucleic acid sequence imbalance | |
| EP2329021A2 (en) | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses | |
| AU2019257485B2 (en) | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses | |
| Lim et al. | Novel epigenetic markers on chromosome 21 for noninvasive prenatal testing of fetal trisomy 21 | |
| Webb et al. | Non invasive prenatal diagnosis of aneuploidy: next generation sequencing or fetal DNA enrichment? | |
| US20230151409A1 (en) | Methods and compositions for noninvasive prenatal diagnosis through targeted covalent labeling of genomic sites | |
| Lin et al. | A multiplex digital PCR-based all-in-one non-invasive prenatal test for simultaneous detection of Fetal chromosomal aneuploidies and Fetal fraction quantification | |
| HK1254596B (en) | Processes for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| PA0105 | International application |
Patent event date: 20120808 Patent event code: PA01051R01D Comment text: International Patent Application |
|
| PG1501 | Laying open of application | ||
| PC1203 | Withdrawal of no request for examination | ||
| WITN | Application deemed withdrawn, e.g. because no request for examination was filed or no examination fee was paid |