TWI637058B - 測定多胞胎妊娠之胎兒基因組 - Google Patents
測定多胞胎妊娠之胎兒基因組 Download PDFInfo
- Publication number
- TWI637058B TWI637058B TW103109991A TW103109991A TWI637058B TW I637058 B TWI637058 B TW I637058B TW 103109991 A TW103109991 A TW 103109991A TW 103109991 A TW103109991 A TW 103109991A TW I637058 B TWI637058 B TW I637058B
- Authority
- TW
- Taiwan
- Prior art keywords
- amount
- fetuses
- genes
- haplotype
- ratio
- Prior art date
Links
- 210000003754 fetus Anatomy 0.000 title claims description 284
- 230000001605 fetal effect Effects 0.000 title claims description 58
- 230000035935 pregnancy Effects 0.000 title description 11
- 108090000623 proteins and genes Proteins 0.000 claims abstract description 359
- 102000054766 genetic haplotypes Human genes 0.000 claims abstract description 293
- 230000008774 maternal effect Effects 0.000 claims abstract description 256
- 230000009977 dual effect Effects 0.000 claims abstract description 239
- 230000008775 paternal effect Effects 0.000 claims abstract description 164
- 238000000034 method Methods 0.000 claims abstract description 122
- 239000012472 biological sample Substances 0.000 claims description 52
- 210000000349 chromosome Anatomy 0.000 claims description 39
- 239000012634 fragment Substances 0.000 claims description 37
- 201000010099 disease Diseases 0.000 claims description 22
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims description 22
- 230000002759 chromosomal effect Effects 0.000 claims description 21
- 238000012163 sequencing technique Methods 0.000 claims description 15
- 230000002068 genetic effect Effects 0.000 claims description 14
- 210000004027 cell Anatomy 0.000 claims description 5
- 208000022602 disease susceptibility Diseases 0.000 claims description 4
- 108700026220 vif Genes Proteins 0.000 claims description 3
- 230000000392 somatic effect Effects 0.000 claims description 2
- 108700028369 Alleles Proteins 0.000 claims 2
- 238000004590 computer program Methods 0.000 claims 1
- 208000034702 Multiple pregnancies Diseases 0.000 abstract description 10
- 108020004414 DNA Proteins 0.000 description 94
- 238000004458 analytical method Methods 0.000 description 54
- 239000000523 sample Substances 0.000 description 28
- 238000009826 distribution Methods 0.000 description 14
- 238000003556 assay Methods 0.000 description 12
- 238000010586 diagram Methods 0.000 description 11
- 238000003752 polymerase chain reaction Methods 0.000 description 10
- 238000005259 measurement Methods 0.000 description 9
- 208000034790 Twin pregnancy Diseases 0.000 description 7
- 230000035772 mutation Effects 0.000 description 7
- 210000004369 blood Anatomy 0.000 description 6
- 239000008280 blood Substances 0.000 description 6
- 238000004364 calculation method Methods 0.000 description 6
- 238000012252 genetic analysis Methods 0.000 description 6
- 239000000203 mixture Substances 0.000 description 6
- 108020004707 nucleic acids Proteins 0.000 description 6
- 102000039446 nucleic acids Human genes 0.000 description 6
- 150000007523 nucleic acids Chemical class 0.000 description 6
- 238000007847 digital PCR Methods 0.000 description 5
- 239000002773 nucleotide Substances 0.000 description 5
- 125000003729 nucleotide group Chemical group 0.000 description 5
- 238000004088 simulation Methods 0.000 description 5
- 210000004700 fetal blood Anatomy 0.000 description 4
- 238000003793 prenatal diagnosis Methods 0.000 description 4
- 230000005540 biological transmission Effects 0.000 description 3
- 210000000601 blood cell Anatomy 0.000 description 3
- 238000001514 detection method Methods 0.000 description 3
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- 238000011156 evaluation Methods 0.000 description 3
- 238000010606 normalization Methods 0.000 description 3
- 230000003287 optical effect Effects 0.000 description 3
- 102000054765 polymorphisms of proteins Human genes 0.000 description 3
- 230000035945 sensitivity Effects 0.000 description 3
- 238000012360 testing method Methods 0.000 description 3
- 238000001712 DNA sequencing Methods 0.000 description 2
- 208000026350 Inborn Genetic disease Diseases 0.000 description 2
- 208000024556 Mendelian disease Diseases 0.000 description 2
- 108091028043 Nucleic acid sequence Proteins 0.000 description 2
- 101150108975 Rhd gene Proteins 0.000 description 2
- 238000012217 deletion Methods 0.000 description 2
- 208000016361 genetic disease Diseases 0.000 description 2
- 210000003780 hair follicle Anatomy 0.000 description 2
- 210000000265 leukocyte Anatomy 0.000 description 2
- 238000004445 quantitative analysis Methods 0.000 description 2
- 210000001995 reticulocyte Anatomy 0.000 description 2
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- 210000002966 serum Anatomy 0.000 description 2
- 241000894007 species Species 0.000 description 2
- 238000007619 statistical method Methods 0.000 description 2
- 210000004243 sweat Anatomy 0.000 description 2
- 210000001519 tissue Anatomy 0.000 description 2
- 210000002700 urine Anatomy 0.000 description 2
- 206010003445 Ascites Diseases 0.000 description 1
- 241000282412 Homo Species 0.000 description 1
- 108091092878 Microsatellite Proteins 0.000 description 1
- 101100495925 Schizosaccharomyces pombe (strain 972 / ATCC 24843) chr3 gene Proteins 0.000 description 1
- 238000000692 Student's t-test Methods 0.000 description 1
- 208000037280 Trisomy Diseases 0.000 description 1
- 238000002669 amniocentesis Methods 0.000 description 1
- 208000036878 aneuploidy Diseases 0.000 description 1
- 231100001075 aneuploidy Toxicity 0.000 description 1
- 210000000941 bile Anatomy 0.000 description 1
- 230000003851 biochemical process Effects 0.000 description 1
- 238000004422 calculation algorithm Methods 0.000 description 1
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- 210000003756 cervix mucus Anatomy 0.000 description 1
- 238000006243 chemical reaction Methods 0.000 description 1
- 238000000546 chi-square test Methods 0.000 description 1
- 208000024971 chromosomal disease Diseases 0.000 description 1
- 238000005094 computer simulation Methods 0.000 description 1
- 230000037430 deletion Effects 0.000 description 1
- 230000008030 elimination Effects 0.000 description 1
- 238000003379 elimination reaction Methods 0.000 description 1
- 238000001976 enzyme digestion Methods 0.000 description 1
- 210000005002 female reproductive tract Anatomy 0.000 description 1
- 230000006870 function Effects 0.000 description 1
- 102000054767 gene variant Human genes 0.000 description 1
- 238000011331 genomic analysis Methods 0.000 description 1
- 238000003205 genotyping method Methods 0.000 description 1
- 238000003384 imaging method Methods 0.000 description 1
- 230000002998 immunogenetic effect Effects 0.000 description 1
- 239000003550 marker Substances 0.000 description 1
- 238000004949 mass spectrometry Methods 0.000 description 1
- 239000000463 material Substances 0.000 description 1
- 230000021121 meiosis Effects 0.000 description 1
- 238000007481 next generation sequencing Methods 0.000 description 1
- 239000003921 oil Substances 0.000 description 1
- 210000001819 pancreatic juice Anatomy 0.000 description 1
- 238000009595 pap smear Methods 0.000 description 1
- 230000002093 peripheral effect Effects 0.000 description 1
- 210000004910 pleural fluid Anatomy 0.000 description 1
- 238000002360 preparation method Methods 0.000 description 1
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- 230000006798 recombination Effects 0.000 description 1
- 238000005215 recombination Methods 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 108091008146 restriction endonucleases Proteins 0.000 description 1
- 230000000717 retained effect Effects 0.000 description 1
- 238000003757 reverse transcription PCR Methods 0.000 description 1
- 210000003765 sex chromosome Anatomy 0.000 description 1
- 230000020509 sex determination Effects 0.000 description 1
- 210000001138 tear Anatomy 0.000 description 1
- 238000002604 ultrasonography Methods 0.000 description 1
- 230000036266 weeks of gestation 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
-
- 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
- G16B30/10—Sequence alignment; Homology search
-
- 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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- 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
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Engineering & Computer Science (AREA)
- Analytical Chemistry (AREA)
- Physics & Mathematics (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Genetics & Genomics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Immunology (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- General Engineering & Computer Science (AREA)
- Pathology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Evolutionary Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Medical Informatics (AREA)
- Theoretical Computer Science (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Management, Administration, Business Operations System, And Electronic Commerce (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201361789992P | 2013-03-15 | 2013-03-15 | |
| US61/789,992 | 2013-03-15 |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| TW201441373A TW201441373A (zh) | 2014-11-01 |
| TWI637058B true TWI637058B (zh) | 2018-10-01 |
Family
ID=51535879
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| TW103109991A TWI637058B (zh) | 2013-03-15 | 2014-03-17 | 測定多胞胎妊娠之胎兒基因組 |
Country Status (11)
| Country | Link |
|---|---|
| US (1) | US10106836B2 (https=) |
| EP (2) | EP3434790A1 (https=) |
| JP (1) | JP2016518811A (https=) |
| KR (1) | KR20150132216A (https=) |
| CN (1) | CN105121660B (https=) |
| AU (1) | AU2014231358A1 (https=) |
| CA (1) | CA2901773A1 (https=) |
| EA (1) | EA201500939A1 (https=) |
| MX (1) | MX363345B (https=) |
| TW (1) | TWI637058B (https=) |
| WO (1) | WO2014139477A1 (https=) |
Families Citing this family (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| LT3783110T (lt) | 2009-11-05 | 2023-01-25 | The Chinese University Of Hong Kong | Vaisiaus genomo analizė iš motinos biologinio mėginio |
| EP2860265B1 (en) | 2011-02-24 | 2016-10-26 | The Chinese University of Hong Kong | Determining fetal DNA percentage for twins |
| TWI637058B (zh) | 2013-03-15 | 2018-10-01 | 香港中文大學 | 測定多胞胎妊娠之胎兒基因組 |
| EP4063517B1 (en) | 2015-07-20 | 2026-01-07 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in cell-free dna mixtures of maternal and fetal dna |
Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| TW201243326A (en) * | 2011-02-24 | 2012-11-01 | Univ Hong Kong Chinese | Molecular testing of multiple pregnancies |
Family Cites Families (21)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB9704444D0 (en) | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
| US6927028B2 (en) | 2001-08-31 | 2005-08-09 | Chinese University Of Hong Kong | Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA |
| US7727720B2 (en) | 2002-05-08 | 2010-06-01 | Ravgen, Inc. | Methods for detection of genetic disorders |
| WO2004078999A1 (en) | 2003-03-05 | 2004-09-16 | Genetic Technologies Limited | Identification of fetal dna and fetal cell markers in maternal plasma or serum |
| DE60328193D1 (de) | 2003-10-16 | 2009-08-13 | Sequenom Inc | Nicht invasiver Nachweis fötaler genetischer Merkmale |
| CA2601221C (en) | 2005-03-18 | 2013-08-06 | The Chinese University Of Hong Kong | A method for the detection of chromosomal aneuploidies |
| US20070122823A1 (en) | 2005-09-01 | 2007-05-31 | Bianchi Diana W | Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis |
| GB0523276D0 (en) | 2005-11-15 | 2005-12-21 | London Bridge Fertility | Chromosomal analysis by molecular karyotyping |
| TR201910868T4 (tr) | 2006-02-02 | 2019-08-21 | Univ Leland Stanford Junior | Dijital analizle invazif olmayan fetal genetik tarama. |
| EP2351858B1 (en) | 2006-02-28 | 2014-12-31 | University of Louisville Research Foundation | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| WO2007147074A2 (en) | 2006-06-14 | 2007-12-21 | Living Microsystems, Inc. | Use of highly parallel snp genotyping for fetal diagnosis |
| LT2557517T (lt) | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| US12180549B2 (en) | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| CN102171565B (zh) | 2008-08-04 | 2015-04-29 | 纳特拉公司 | 等位基因调用和倍性调用的方法 |
| CA2748030A1 (en) | 2008-12-22 | 2010-07-01 | Arnold R. Oliphant | Methods and genotyping panels for detecting alleles, genomes, and transcriptomes |
| LT3783110T (lt) | 2009-11-05 | 2023-01-25 | The Chinese University Of Hong Kong | Vaisiaus genomo analizė iš motinos biologinio mėginio |
| EA034241B1 (ru) | 2009-11-06 | 2020-01-21 | Те Чайниз Юниверсити Ов Гонконг | Способ пренатальной диагностики дисбаланса последовательности |
| US9260745B2 (en) * | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| EP2572003A4 (en) | 2010-05-18 | 2016-01-13 | Natera Inc | METHOD FOR NONINVASIVE PRANATAL PLOIDIE ASSIGNMENT |
| WO2012103031A2 (en) * | 2011-01-25 | 2012-08-02 | Ariosa Diagnostics, Inc. | Detection of genetic abnormalities |
| TWI637058B (zh) | 2013-03-15 | 2018-10-01 | 香港中文大學 | 測定多胞胎妊娠之胎兒基因組 |
-
2014
- 2014-03-17 TW TW103109991A patent/TWI637058B/zh active
- 2014-03-17 KR KR1020157027071A patent/KR20150132216A/ko not_active Withdrawn
- 2014-03-17 CA CA2901773A patent/CA2901773A1/en not_active Abandoned
- 2014-03-17 EA EA201500939A patent/EA201500939A1/ru unknown
- 2014-03-17 CN CN201480012432.2A patent/CN105121660B/zh active Active
- 2014-03-17 EP EP18194883.7A patent/EP3434790A1/en not_active Withdrawn
- 2014-03-17 EP EP14764129.4A patent/EP2971126B1/en not_active Not-in-force
- 2014-03-17 WO PCT/CN2014/073506 patent/WO2014139477A1/en not_active Ceased
- 2014-03-17 AU AU2014231358A patent/AU2014231358A1/en not_active Abandoned
- 2014-03-17 JP JP2015561932A patent/JP2016518811A/ja active Pending
- 2014-03-17 US US14/216,405 patent/US10106836B2/en not_active Expired - Fee Related
- 2014-03-17 MX MX2015010785A patent/MX363345B/es unknown
Patent Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| TW201243326A (en) * | 2011-02-24 | 2012-11-01 | Univ Hong Kong Chinese | Molecular testing of multiple pregnancies |
Also Published As
| Publication number | Publication date |
|---|---|
| CN105121660B (zh) | 2018-09-28 |
| CA2901773A1 (en) | 2014-09-18 |
| US10106836B2 (en) | 2018-10-23 |
| MX363345B (es) | 2019-03-20 |
| AU2014231358A1 (en) | 2015-09-24 |
| CN105121660A (zh) | 2015-12-02 |
| WO2014139477A1 (en) | 2014-09-18 |
| TW201441373A (zh) | 2014-11-01 |
| EP2971126A1 (en) | 2016-01-20 |
| EP2971126B1 (en) | 2018-11-07 |
| MX2015010785A (es) | 2015-11-26 |
| JP2016518811A (ja) | 2016-06-30 |
| EA201500939A1 (ru) | 2016-01-29 |
| EP3434790A1 (en) | 2019-01-30 |
| KR20150132216A (ko) | 2015-11-25 |
| EP2971126A4 (en) | 2016-10-26 |
| US20140315200A1 (en) | 2014-10-23 |
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