CA3022548A1 - Multiplexed optimized mismatch amplification (moma)-real time pcr for assessing fetal well being - Google Patents
Multiplexed optimized mismatch amplification (moma)-real time pcr for assessing fetal well being Download PDFInfo
- Publication number
- CA3022548A1 CA3022548A1 CA3022548A CA3022548A CA3022548A1 CA 3022548 A1 CA3022548 A1 CA 3022548A1 CA 3022548 A CA3022548 A CA 3022548A CA 3022548 A CA3022548 A CA 3022548A CA 3022548 A1 CA3022548 A1 CA 3022548A1
- Authority
- CA
- Canada
- Prior art keywords
- snv
- targets
- nucleic acids
- fetal
- allele
- 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.)
- Abandoned
Links
- 230000001605 fetal effect Effects 0.000 title claims abstract description 144
- 230000003321 amplification Effects 0.000 title claims description 83
- 238000003199 nucleic acid amplification method Methods 0.000 title claims description 83
- 238000003753 real-time PCR Methods 0.000 title claims description 20
- 241000840267 Moma Species 0.000 title 1
- 238000000034 method Methods 0.000 claims abstract description 375
- 150000007523 nucleic acids Chemical class 0.000 claims abstract description 177
- 239000000203 mixture Substances 0.000 claims abstract description 175
- 108020004707 nucleic acids Proteins 0.000 claims abstract description 172
- 102000039446 nucleic acids Human genes 0.000 claims abstract description 172
- 239000000523 sample Substances 0.000 claims description 129
- 108700028369 Alleles Proteins 0.000 claims description 93
- 238000003752 polymerase chain reaction Methods 0.000 claims description 59
- 238000003556 assay Methods 0.000 claims description 58
- 210000003754 fetus Anatomy 0.000 claims description 44
- 238000012207 quantitative assay Methods 0.000 claims description 42
- 238000011282 treatment Methods 0.000 claims description 28
- 238000011002 quantification Methods 0.000 claims description 26
- 210000004369 blood Anatomy 0.000 claims description 16
- 239000008280 blood Substances 0.000 claims description 16
- 239000002773 nucleotide Substances 0.000 claims description 16
- 125000003729 nucleotide group Chemical group 0.000 claims description 16
- 230000002441 reversible effect Effects 0.000 claims description 14
- 238000012544 monitoring process Methods 0.000 claims description 11
- 239000000872 buffer Substances 0.000 claims description 9
- 238000004422 calculation algorithm Methods 0.000 claims description 9
- 230000008775 paternal effect Effects 0.000 claims description 8
- 238000007847 digital PCR Methods 0.000 claims description 6
- 230000000694 effects Effects 0.000 claims description 6
- 210000002966 serum Anatomy 0.000 claims description 6
- 239000007850 fluorescent dye Substances 0.000 claims description 4
- 210000002381 plasma Anatomy 0.000 claims description 4
- 208000032943 Fetal Distress Diseases 0.000 claims description 3
- 206010016855 Foetal distress syndrome Diseases 0.000 claims description 3
- 108020004414 DNA Proteins 0.000 description 56
- 238000006243 chemical reaction Methods 0.000 description 33
- 238000004458 analytical method Methods 0.000 description 30
- 230000035935 pregnancy Effects 0.000 description 23
- 238000002560 therapeutic procedure Methods 0.000 description 21
- 230000008774 maternal effect Effects 0.000 description 14
- 238000012360 testing method Methods 0.000 description 14
- 108010014303 DNA-directed DNA polymerase Proteins 0.000 description 12
- 102000016928 DNA-directed DNA polymerase Human genes 0.000 description 12
- 108091061744 Cell-free fetal DNA Proteins 0.000 description 10
- 238000001514 detection method Methods 0.000 description 10
- 102000004190 Enzymes Human genes 0.000 description 9
- 108090000790 Enzymes Proteins 0.000 description 9
- 230000008859 change Effects 0.000 description 9
- 238000011161 development Methods 0.000 description 9
- IAZDPXIOMUYVGZ-UHFFFAOYSA-N Dimethylsulphoxide Chemical compound CS(C)=O IAZDPXIOMUYVGZ-UHFFFAOYSA-N 0.000 description 8
- FYYHWMGAXLPEAU-UHFFFAOYSA-N Magnesium Chemical compound [Mg] FYYHWMGAXLPEAU-UHFFFAOYSA-N 0.000 description 8
- 208000006399 Premature Obstetric Labor Diseases 0.000 description 8
- 210000004027 cell Anatomy 0.000 description 8
- 238000003745 diagnosis Methods 0.000 description 8
- 239000000975 dye Substances 0.000 description 8
- 238000003205 genotyping method Methods 0.000 description 8
- 229910052749 magnesium Inorganic materials 0.000 description 8
- 239000011777 magnesium Substances 0.000 description 8
- 238000002844 melting Methods 0.000 description 8
- 230000008018 melting Effects 0.000 description 8
- 230000008569 process Effects 0.000 description 8
- 208000006031 Hydrops Fetalis Diseases 0.000 description 7
- 238000002944 PCR assay Methods 0.000 description 7
- 230000003247 decreasing effect Effects 0.000 description 7
- 239000000463 material Substances 0.000 description 7
- -1 non-native DNA Chemical class 0.000 description 7
- PEDCQBHIVMGVHV-UHFFFAOYSA-N Glycerine Chemical compound OCC(O)CO PEDCQBHIVMGVHV-UHFFFAOYSA-N 0.000 description 6
- 241000521257 Hydrops Species 0.000 description 6
- 206010030113 Oedema Diseases 0.000 description 6
- 238000000137 annealing Methods 0.000 description 6
- 231100000562 fetal loss Toxicity 0.000 description 6
- 238000012545 processing Methods 0.000 description 6
- 208000001951 Fetal Death Diseases 0.000 description 5
- 208000036818 High risk pregnancy Diseases 0.000 description 5
- 206010020529 Hydrops foetalis Diseases 0.000 description 5
- 239000012634 fragment Substances 0.000 description 5
- 230000035772 mutation Effects 0.000 description 5
- 108091003079 Bovine Serum Albumin Proteins 0.000 description 4
- 206010010356 Congenital anomaly Diseases 0.000 description 4
- 102000053602 DNA Human genes 0.000 description 4
- 108010017826 DNA Polymerase I Proteins 0.000 description 4
- 102000004594 DNA Polymerase I Human genes 0.000 description 4
- 206010049119 Emotional distress Diseases 0.000 description 4
- 241000588724 Escherichia coli Species 0.000 description 4
- 108091028043 Nucleic acid sequence Proteins 0.000 description 4
- 239000002202 Polyethylene glycol Substances 0.000 description 4
- 230000002411 adverse Effects 0.000 description 4
- 229940098773 bovine serum albumin Drugs 0.000 description 4
- SUYVUBYJARFZHO-RRKCRQDMSA-N dATP Chemical compound C1=NC=2C(N)=NC=NC=2N1[C@H]1C[C@H](O)[C@@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O1 SUYVUBYJARFZHO-RRKCRQDMSA-N 0.000 description 4
- RGWHQCVHVJXOKC-SHYZEUOFSA-N dCTP Chemical compound O=C1N=C(N)C=CN1[C@@H]1O[C@H](CO[P@](O)(=O)O[P@](O)(=O)OP(O)(O)=O)[C@@H](O)C1 RGWHQCVHVJXOKC-SHYZEUOFSA-N 0.000 description 4
- HAAZLUGHYHWQIW-KVQBGUIXSA-N dGTP Chemical compound C1=NC=2C(=O)NC(N)=NC=2N1[C@H]1C[C@H](O)[C@@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O1 HAAZLUGHYHWQIW-KVQBGUIXSA-N 0.000 description 4
- NHVNXKFIZYSCEB-XLPZGREQSA-N dTTP Chemical compound O=C1NC(=O)C(C)=CN1[C@@H]1O[C@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)[C@@H](O)C1 NHVNXKFIZYSCEB-XLPZGREQSA-N 0.000 description 4
- 239000000539 dimer Substances 0.000 description 4
- 230000009429 distress Effects 0.000 description 4
- 230000036541 health Effects 0.000 description 4
- 238000005259 measurement Methods 0.000 description 4
- 238000012986 modification Methods 0.000 description 4
- 230000004048 modification Effects 0.000 description 4
- 229920001223 polyethylene glycol Polymers 0.000 description 4
- 239000000243 solution Substances 0.000 description 4
- 208000002757 Fetofetal Transfusion Diseases 0.000 description 3
- 208000006442 Gastroschisis Diseases 0.000 description 3
- 206010035146 Placental transfusion syndrome Diseases 0.000 description 3
- 108010006785 Taq Polymerase Proteins 0.000 description 3
- 239000000654 additive Substances 0.000 description 3
- 238000013459 approach Methods 0.000 description 3
- 239000011324 bead Substances 0.000 description 3
- 238000004891 communication Methods 0.000 description 3
- 230000002596 correlated effect Effects 0.000 description 3
- 238000013461 design Methods 0.000 description 3
- 229940079593 drug Drugs 0.000 description 3
- 239000003814 drug Substances 0.000 description 3
- 238000002474 experimental method Methods 0.000 description 3
- 230000006870 function Effects 0.000 description 3
- 210000002216 heart Anatomy 0.000 description 3
- 238000009396 hybridization Methods 0.000 description 3
- 230000000670 limiting effect Effects 0.000 description 3
- 230000035945 sensitivity Effects 0.000 description 3
- 238000000926 separation method Methods 0.000 description 3
- 238000012163 sequencing technique Methods 0.000 description 3
- 201000002770 twin to twin transfusion syndrome Diseases 0.000 description 3
- 238000002604 ultrasonography Methods 0.000 description 3
- 210000004291 uterus Anatomy 0.000 description 3
- 230000036642 wellbeing Effects 0.000 description 3
- 206010060937 Amniotic cavity infection Diseases 0.000 description 2
- 108091093088 Amplicon Proteins 0.000 description 2
- 206010006094 Bradycardia foetal Diseases 0.000 description 2
- 208000008158 Chorioamnionitis Diseases 0.000 description 2
- 208000023445 Congenital pulmonary airway malformation Diseases 0.000 description 2
- 241000701022 Cytomegalovirus Species 0.000 description 2
- 238000013382 DNA quantification Methods 0.000 description 2
- 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 2
- 206010055690 Foetal death Diseases 0.000 description 2
- 206010020772 Hypertension Diseases 0.000 description 2
- TWRXJAOTZQYOKJ-UHFFFAOYSA-L Magnesium chloride Chemical compound [Mg+2].[Cl-].[Cl-] TWRXJAOTZQYOKJ-UHFFFAOYSA-L 0.000 description 2
- 238000007476 Maximum Likelihood Methods 0.000 description 2
- 108010002747 Pfu DNA polymerase Proteins 0.000 description 2
- CXOFVDLJLONNDW-UHFFFAOYSA-N Phenytoin Chemical compound N1C(=O)NC(=O)C1(C=1C=CC=CC=1)C1=CC=CC=C1 CXOFVDLJLONNDW-UHFFFAOYSA-N 0.000 description 2
- 206010036590 Premature baby Diseases 0.000 description 2
- 206010037601 Pyelonephritis chronic Diseases 0.000 description 2
- 238000011529 RT qPCR Methods 0.000 description 2
- 241001613917 Staphylococcus virus 29 Species 0.000 description 2
- 241000589499 Thermus thermophilus Species 0.000 description 2
- 108010001244 Tli polymerase Proteins 0.000 description 2
- NIJJYAXOARWZEE-UHFFFAOYSA-N Valproic acid Chemical compound CCCC(C(O)=O)CCC NIJJYAXOARWZEE-UHFFFAOYSA-N 0.000 description 2
- 230000001154 acute effect Effects 0.000 description 2
- 208000036878 aneuploidy Diseases 0.000 description 2
- 231100001075 aneuploidy Toxicity 0.000 description 2
- 206010003119 arrhythmia Diseases 0.000 description 2
- 108010058966 bacteriophage T7 induced DNA polymerase Proteins 0.000 description 2
- 230000008901 benefit Effects 0.000 description 2
- 239000012472 biological sample Substances 0.000 description 2
- 230000015572 biosynthetic process Effects 0.000 description 2
- 238000004364 calculation method Methods 0.000 description 2
- 238000005119 centrifugation Methods 0.000 description 2
- 201000006368 chronic pyelonephritis Diseases 0.000 description 2
- 238000012631 diagnostic technique Methods 0.000 description 2
- 201000010099 disease Diseases 0.000 description 2
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 2
- 238000005516 engineering process Methods 0.000 description 2
- 238000001914 filtration Methods 0.000 description 2
- 230000002068 genetic effect Effects 0.000 description 2
- 230000036449 good health Effects 0.000 description 2
- 239000001046 green dye Substances 0.000 description 2
- 230000005802 health problem Effects 0.000 description 2
- 230000006872 improvement Effects 0.000 description 2
- 238000000126 in silico method Methods 0.000 description 2
- 231100001046 intrauterine death Toxicity 0.000 description 2
- 239000007788 liquid Substances 0.000 description 2
- 206010025135 lupus erythematosus Diseases 0.000 description 2
- 230000036244 malformation Effects 0.000 description 2
- 238000002493 microarray Methods 0.000 description 2
- 238000002156 mixing Methods 0.000 description 2
- 230000007170 pathology Effects 0.000 description 2
- 230000002685 pulmonary effect Effects 0.000 description 2
- 230000009467 reduction Effects 0.000 description 2
- 230000003595 spectral effect Effects 0.000 description 2
- 208000000995 spontaneous abortion Diseases 0.000 description 2
- 239000004094 surface-active agent Substances 0.000 description 2
- 208000011580 syndromic disease Diseases 0.000 description 2
- 210000001519 tissue Anatomy 0.000 description 2
- 239000001226 triphosphate Substances 0.000 description 2
- 235000011178 triphosphate Nutrition 0.000 description 2
- 125000002264 triphosphate group Chemical class [H]OP(=O)(O[H])OP(=O)(O[H])OP(=O)(O[H])O* 0.000 description 2
- 210000002700 urine Anatomy 0.000 description 2
- NOIRDLRUNWIUMX-UHFFFAOYSA-N 2-amino-3,7-dihydropurin-6-one;6-amino-1h-pyrimidin-2-one Chemical compound NC=1C=CNC(=O)N=1.O=C1NC(N)=NC2=C1NC=N2 NOIRDLRUNWIUMX-UHFFFAOYSA-N 0.000 description 1
- 206010000234 Abortion spontaneous Diseases 0.000 description 1
- 238000012935 Averaging Methods 0.000 description 1
- 201000006082 Chickenpox Diseases 0.000 description 1
- 208000029147 Collagen-vascular disease Diseases 0.000 description 1
- 208000032170 Congenital Abnormalities Diseases 0.000 description 1
- 206010010904 Convulsion Diseases 0.000 description 1
- 238000007400 DNA extraction Methods 0.000 description 1
- 201000010374 Down Syndrome Diseases 0.000 description 1
- LFQSCWFLJHTTHZ-UHFFFAOYSA-N Ethanol Chemical compound CCO LFQSCWFLJHTTHZ-UHFFFAOYSA-N 0.000 description 1
- 108060002716 Exonuclease Proteins 0.000 description 1
- 208000001362 Fetal Growth Retardation Diseases 0.000 description 1
- 206010016847 Foetal arrhythmia Diseases 0.000 description 1
- 241000193385 Geobacillus stearothermophilus Species 0.000 description 1
- 208000005176 Hepatitis C Diseases 0.000 description 1
- 206010021143 Hypoxia Diseases 0.000 description 1
- JVTAAEKCZFNVCJ-UHFFFAOYSA-M Lactate Chemical compound CC(O)C([O-])=O JVTAAEKCZFNVCJ-UHFFFAOYSA-M 0.000 description 1
- WHXSMMKQMYFTQS-UHFFFAOYSA-N Lithium Chemical compound [Li] WHXSMMKQMYFTQS-UHFFFAOYSA-N 0.000 description 1
- 108700012912 MYCN Proteins 0.000 description 1
- 101150022024 MYCN gene Proteins 0.000 description 1
- 208000034702 Multiple pregnancies Diseases 0.000 description 1
- 108700026495 N-Myc Proto-Oncogene Proteins 0.000 description 1
- 102100030124 N-myc proto-oncogene protein Human genes 0.000 description 1
- 206010028980 Neoplasm Diseases 0.000 description 1
- 206010029260 Neuroblastoma Diseases 0.000 description 1
- 238000012408 PCR amplification Methods 0.000 description 1
- KNAHARQHSZJURB-UHFFFAOYSA-N Propylthiouracile Chemical compound CCCC1=CC(=O)NC(=S)N1 KNAHARQHSZJURB-UHFFFAOYSA-N 0.000 description 1
- 241000205192 Pyrococcus woesei Species 0.000 description 1
- 108091081021 Sense strand Proteins 0.000 description 1
- 206010040047 Sepsis Diseases 0.000 description 1
- 206010040070 Septic Shock Diseases 0.000 description 1
- 101710136739 Teichoic acid poly(glycerol phosphate) polymerase Proteins 0.000 description 1
- 241000204652 Thermotoga Species 0.000 description 1
- 241000589596 Thermus Species 0.000 description 1
- 241000589500 Thermus aquaticus Species 0.000 description 1
- 201000005485 Toxoplasmosis Diseases 0.000 description 1
- 206010046980 Varicella Diseases 0.000 description 1
- 230000002159 abnormal effect Effects 0.000 description 1
- 239000002253 acid Substances 0.000 description 1
- 150000007513 acids Chemical class 0.000 description 1
- 230000000996 additive effect Effects 0.000 description 1
- 210000004381 amniotic fluid Anatomy 0.000 description 1
- 230000000692 anti-sense effect Effects 0.000 description 1
- 239000003146 anticoagulant agent Substances 0.000 description 1
- 229940127219 anticoagulant drug Drugs 0.000 description 1
- 230000006907 apoptotic process Effects 0.000 description 1
- 230000004872 arterial blood pressure Effects 0.000 description 1
- 208000006673 asthma Diseases 0.000 description 1
- 230000006399 behavior Effects 0.000 description 1
- 230000009286 beneficial effect Effects 0.000 description 1
- 239000011230 binding agent Substances 0.000 description 1
- 239000012620 biological material Substances 0.000 description 1
- 201000011510 cancer Diseases 0.000 description 1
- FFGPTBGBLSHEPO-UHFFFAOYSA-N carbamazepine Chemical compound C1=CC2=CC=CC=C2N(C(=O)N)C2=CC=CC=C21 FFGPTBGBLSHEPO-UHFFFAOYSA-N 0.000 description 1
- 229960000623 carbamazepine Drugs 0.000 description 1
- 230000005779 cell damage Effects 0.000 description 1
- 210000002230 centromere Anatomy 0.000 description 1
- 239000013522 chelant Substances 0.000 description 1
- 210000000349 chromosome Anatomy 0.000 description 1
- 208000020832 chronic kidney disease Diseases 0.000 description 1
- 210000003040 circulating cell Anatomy 0.000 description 1
- 239000003086 colorant Substances 0.000 description 1
- 230000000052 comparative effect Effects 0.000 description 1
- 230000000295 complement effect Effects 0.000 description 1
- 230000001010 compromised effect Effects 0.000 description 1
- 230000000875 corresponding effect Effects 0.000 description 1
- 230000006378 damage Effects 0.000 description 1
- 230000007547 defect Effects 0.000 description 1
- 230000002939 deleterious effect Effects 0.000 description 1
- 238000004925 denaturation Methods 0.000 description 1
- 230000036425 denaturation Effects 0.000 description 1
- 239000005549 deoxyribonucleoside Substances 0.000 description 1
- 229940089052 depakene Drugs 0.000 description 1
- 230000001419 dependent effect Effects 0.000 description 1
- 206010012601 diabetes mellitus Diseases 0.000 description 1
- 238000010586 diagram Methods 0.000 description 1
- 229940064790 dilantin Drugs 0.000 description 1
- 230000010339 dilation Effects 0.000 description 1
- 239000012470 diluted sample Substances 0.000 description 1
- 238000007865 diluting Methods 0.000 description 1
- 239000013024 dilution buffer Substances 0.000 description 1
- 230000009977 dual effect Effects 0.000 description 1
- 208000002296 eclampsia Diseases 0.000 description 1
- 238000001962 electrophoresis Methods 0.000 description 1
- 238000000295 emission spectrum Methods 0.000 description 1
- 230000002255 enzymatic effect Effects 0.000 description 1
- 206010015037 epilepsy Diseases 0.000 description 1
- 238000011156 evaluation Methods 0.000 description 1
- 102000013165 exonuclease Human genes 0.000 description 1
- 238000000605 extraction Methods 0.000 description 1
- 208000030941 fetal growth restriction Diseases 0.000 description 1
- 210000002458 fetal heart Anatomy 0.000 description 1
- 208000019622 heart disease Diseases 0.000 description 1
- 210000003709 heart valve Anatomy 0.000 description 1
- 208000009624 holoprosencephaly Diseases 0.000 description 1
- 230000007062 hydrolysis Effects 0.000 description 1
- 238000006460 hydrolysis reaction Methods 0.000 description 1
- 230000007954 hypoxia Effects 0.000 description 1
- 208000015181 infectious disease Diseases 0.000 description 1
- 208000028867 ischemia Diseases 0.000 description 1
- 210000003734 kidney Anatomy 0.000 description 1
- 208000017169 kidney disease Diseases 0.000 description 1
- 238000011005 laboratory method Methods 0.000 description 1
- 239000007791 liquid phase Substances 0.000 description 1
- 229910052744 lithium Inorganic materials 0.000 description 1
- 230000007774 longterm Effects 0.000 description 1
- 210000004072 lung Anatomy 0.000 description 1
- 238000007403 mPCR Methods 0.000 description 1
- 229910001629 magnesium chloride Inorganic materials 0.000 description 1
- 239000011159 matrix material Substances 0.000 description 1
- 230000007246 mechanism Effects 0.000 description 1
- 238000002483 medication Methods 0.000 description 1
- 230000002503 metabolic effect Effects 0.000 description 1
- 230000004060 metabolic process Effects 0.000 description 1
- 230000037323 metabolic rate Effects 0.000 description 1
- 239000003068 molecular probe Substances 0.000 description 1
- 238000007837 multiplex assay Methods 0.000 description 1
- 238000007481 next generation sequencing Methods 0.000 description 1
- 230000003287 optical effect Effects 0.000 description 1
- 238000004806 packaging method and process Methods 0.000 description 1
- 229960002036 phenytoin Drugs 0.000 description 1
- 230000003169 placental effect Effects 0.000 description 1
- 238000006116 polymerization reaction Methods 0.000 description 1
- 238000012805 post-processing Methods 0.000 description 1
- 239000000843 powder Substances 0.000 description 1
- 201000011461 pre-eclampsia Diseases 0.000 description 1
- 238000002360 preparation method Methods 0.000 description 1
- 230000002250 progressing effect Effects 0.000 description 1
- 108090000623 proteins and genes Proteins 0.000 description 1
- 238000000746 purification Methods 0.000 description 1
- 238000003908 quality control method Methods 0.000 description 1
- 238000011084 recovery Methods 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 230000000717 retained effect Effects 0.000 description 1
- 238000012552 review Methods 0.000 description 1
- 206010039073 rheumatoid arthritis Diseases 0.000 description 1
- 201000005404 rubella Diseases 0.000 description 1
- 150000003839 salts Chemical class 0.000 description 1
- 238000012216 screening Methods 0.000 description 1
- 208000024105 semilobar holoprosencephaly Diseases 0.000 description 1
- 238000011896 sensitive detection Methods 0.000 description 1
- 230000036303 septic shock Effects 0.000 description 1
- 208000007056 sickle cell anemia Diseases 0.000 description 1
- 238000002922 simulated annealing Methods 0.000 description 1
- AEQFSUDEHCCHBT-UHFFFAOYSA-M sodium valproate Chemical compound [Na+].CCCC(C([O-])=O)CCC AEQFSUDEHCCHBT-UHFFFAOYSA-M 0.000 description 1
- 239000007787 solid Substances 0.000 description 1
- 238000000638 solvent extraction Methods 0.000 description 1
- 238000001228 spectrum Methods 0.000 description 1
- 238000012421 spiking Methods 0.000 description 1
- 230000001502 supplementing effect Effects 0.000 description 1
- 230000003319 supportive effect Effects 0.000 description 1
- 238000001356 surgical procedure Methods 0.000 description 1
- 208000006379 syphilis Diseases 0.000 description 1
- 230000009885 systemic effect Effects 0.000 description 1
- 230000008685 targeting Effects 0.000 description 1
- 229940090016 tegretol Drugs 0.000 description 1
- 108091035539 telomere Proteins 0.000 description 1
- 102000055501 telomere Human genes 0.000 description 1
- 210000003411 telomere Anatomy 0.000 description 1
- 230000002123 temporal effect Effects 0.000 description 1
- 230000001573 trophoblastic effect Effects 0.000 description 1
- 238000000870 ultraviolet spectroscopy Methods 0.000 description 1
- 229960000604 valproic acid Drugs 0.000 description 1
- 208000019553 vascular disease Diseases 0.000 description 1
- 230000000007 visual effect Effects 0.000 description 1
- 230000001755 vocal effect Effects 0.000 description 1
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
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6858—Allele-specific amplification
-
- 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
-
- 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
-
- 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
- C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
-
- 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
- C12Q2600/112—Disease subtyping, staging or classification
-
- 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
- C12Q2600/16—Primer sets for multiplex assays
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Physics & Mathematics (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Biophysics (AREA)
- Analytical Chemistry (AREA)
- Biotechnology (AREA)
- Genetics & Genomics (AREA)
- General Health & Medical Sciences (AREA)
- Molecular Biology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Medical Informatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201662330044P | 2016-04-29 | 2016-04-29 | |
| US62/330,044 | 2016-04-29 | ||
| PCT/US2017/030292 WO2017190105A1 (en) | 2016-04-29 | 2017-04-29 | Multiplexed optimized mismatch amplification (moma)-real time pcr for assessing fetal well being |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA3022548A1 true CA3022548A1 (en) | 2017-11-02 |
Family
ID=60161136
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA3022548A Abandoned CA3022548A1 (en) | 2016-04-29 | 2017-04-29 | Multiplexed optimized mismatch amplification (moma)-real time pcr for assessing fetal well being |
Country Status (11)
| Country | Link |
|---|---|
| US (1) | US20190153525A1 (https=) |
| EP (1) | EP3449018A4 (https=) |
| JP (1) | JP2019514387A (https=) |
| CN (1) | CN109661476A (https=) |
| AU (1) | AU2017258800A1 (https=) |
| BR (1) | BR112018072197A2 (https=) |
| CA (1) | CA3022548A1 (https=) |
| EA (1) | EA201892490A1 (https=) |
| IL (1) | IL262641A (https=) |
| MX (1) | MX2018013261A (https=) |
| WO (1) | WO2017190105A1 (https=) |
Families Citing this family (22)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US11111543B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
| US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US12221653B2 (en) | 2010-05-18 | 2025-02-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US9677118B2 (en) | 2014-04-21 | 2017-06-13 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US12152275B2 (en) | 2010-05-18 | 2024-11-26 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| AU2011358564B9 (en) | 2011-02-09 | 2017-07-13 | Natera, Inc | Methods for non-invasive prenatal ploidy calling |
| US20140100126A1 (en) | 2012-08-17 | 2014-04-10 | Natera, Inc. | Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data |
| US20180173845A1 (en) | 2014-06-05 | 2018-06-21 | Natera, Inc. | Systems and Methods for Detection of Aneuploidy |
| WO2016183106A1 (en) | 2015-05-11 | 2016-11-17 | Natera, Inc. | Methods and compositions for determining ploidy |
| WO2017181202A2 (en) | 2016-04-15 | 2017-10-19 | Natera, Inc. | Methods for lung cancer detection |
| GB201618485D0 (en) | 2016-11-02 | 2016-12-14 | Ucl Business Plc | Method of detecting tumour recurrence |
| CN110114477A (zh) * | 2016-11-02 | 2019-08-09 | 威斯康星州立大学医学院 | 用于使用总的和特异性无细胞dna评估风险的方法 |
| CA3042722A1 (en) * | 2016-11-02 | 2018-05-11 | The Medical College Of Wisconsin, Inc. | Methods for assessing risk using mismatch amplification and statistical methods |
| AU2018288832B2 (en) | 2017-06-20 | 2025-03-06 | The Medical College Of Wisconsin, Inc. | Assessing transplant complication risk with total cell-free DNA |
| JP2021506342A (ja) | 2017-12-14 | 2021-02-22 | ティーエーアイ ダイアグノスティックス インコーポレイテッドＴａｉ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． | 移植のための移植片適合性の評価 |
| CA3090426A1 (en) | 2018-04-14 | 2019-10-17 | Natera, Inc. | Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna |
| US12234509B2 (en) | 2018-07-03 | 2025-02-25 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| US11931674B2 (en) | 2019-04-04 | 2024-03-19 | Natera, Inc. | Materials and methods for processing blood samples |
Family Cites Families (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2004078999A1 (en) * | 2003-03-05 | 2004-09-16 | Genetic Technologies Limited | Identification of fetal dna and fetal cell markers in maternal plasma or serum |
| EP2351858B1 (en) * | 2006-02-28 | 2014-12-31 | University of Louisville Research Foundation | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| BR112014014664B1 (pt) * | 2011-12-16 | 2023-02-28 | Basf Agrochemical Products, B.V | Método para analisar um gene ahasl de planta e kit para analisar um gene ahasl de planta |
| WO2014143989A1 (en) * | 2013-03-15 | 2014-09-18 | Medical College Of Wisconsin, Inc. | Fetal well being surveillance using fetal specific cell free dna |
| WO2015178978A2 (en) * | 2014-02-14 | 2015-11-26 | The Board Of Regents Of The University Of Texas System | Strand exchange hairpin primers that give high allelic discrimination |
| US20180142296A1 (en) * | 2015-04-30 | 2018-05-24 | Medical College Of Wisconsin, Inc. | Multiplexed optimized mismatch amplification (moma)-real time pcr for assessing cell-free dna |
-
2017
- 2017-04-29 EP EP17790614.6A patent/EP3449018A4/en not_active Withdrawn
- 2017-04-29 BR BR112018072197A patent/BR112018072197A2/pt not_active IP Right Cessation
- 2017-04-29 US US16/097,422 patent/US20190153525A1/en not_active Abandoned
- 2017-04-29 WO PCT/US2017/030292 patent/WO2017190105A1/en not_active Ceased
- 2017-04-29 AU AU2017258800A patent/AU2017258800A1/en not_active Abandoned
- 2017-04-29 EA EA201892490A patent/EA201892490A1/ru unknown
- 2017-04-29 JP JP2018556973A patent/JP2019514387A/ja active Pending
- 2017-04-29 MX MX2018013261A patent/MX2018013261A/es unknown
- 2017-04-29 CN CN201780040662.3A patent/CN109661476A/zh active Pending
- 2017-04-29 CA CA3022548A patent/CA3022548A1/en not_active Abandoned
-
2018
- 2018-10-28 IL IL262641A patent/IL262641A/en unknown
Also Published As
| Publication number | Publication date |
|---|---|
| US20190153525A1 (en) | 2019-05-23 |
| EA201892490A1 (ru) | 2019-07-31 |
| MX2018013261A (es) | 2019-04-22 |
| BR112018072197A2 (pt) | 2019-02-12 |
| CN109661476A (zh) | 2019-04-19 |
| AU2017258800A1 (en) | 2018-12-20 |
| WO2017190105A1 (en) | 2017-11-02 |
| EP3449018A1 (en) | 2019-03-06 |
| EP3449018A4 (en) | 2019-11-06 |
| IL262641A (en) | 2018-12-31 |
| JP2019514387A (ja) | 2019-06-06 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US20190153525A1 (en) | Multiplexed optimized mismatch amplification (moma)-real time pcr for assessing fetal well being | |
| JP7630902B2 (ja) | 多重／最適化ミスマッチ増幅（ｍｏｍａ）－標的数 | |
| US20210301320A1 (en) | Multiplexed optimized mismatch amplification (moma)-cancer risk assessment with non-cancer associated targets | |
| US20220145391A1 (en) | Assessing risk with total cell-free dna | |
| CN103608466B (zh) | 非侵入性产前亲子鉴定方法 | |
| AU2025204208A1 (en) | Assessing transplant complication risk with total cell-free DNA | |
| US20190360033A1 (en) | Methods for assessing risk using mismatch amplification and statistical methods | |
| Perlado et al. | Fetal genotyping in maternal blood by digital PCR: towards NIPD of monogenic disorders independently of parental origin | |
| JP2018514219A (ja) | 無細胞ｄｎａを評価するための多重／最適化ミスマッチ増幅（ｍｏｍａ）−リアルタイムｐｃｒ | |
| Sawakwongpra et al. | Droplet-based digital PCR for non-invasive prenatal genetic diagnosis of α and β-thalassemia | |
| JP7331325B1 (ja) | ２種以上の検査を実施可能な遺伝学的解析方法 | |
| WO2018090991A1 (en) | Universal haplotype-based noninvasive prenatal testing for single gene diseases | |
| Li et al. | Digital PCR and its applications in noninvasive prenatal testing | |
| Yang et al. | Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β‐thalassemia by a novel method of noninvasive prenatal testing | |
| White et al. | The Technology of Cell-Free Fetal DNA-Based NIPT | |
| HK40005635A (en) | Multiplexed optimized mismatch amplification (moma)-target number | |
| HK40005635B (en) | Multiplexed optimized mismatch amplification (moma)-target number | |
| US20210079470A1 (en) | Noninvasive prenatal diagnosis of single-gene disorders using droplet digital pcr | |
| HK1195104B (zh) | 非侵入性产前亲子鉴定方法 |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| FZDE | Discontinued |
Effective date: 20230727 |