JP2013529071A5 - - Google Patents

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Publication number

JP2013529071A5

JP2013529071A5 JP2013505490A JP2013505490A JP2013529071A5 JP 2013529071 A5 JP2013529071 A5 JP 2013529071A5 JP 2013505490 A JP2013505490 A JP 2013505490A JP 2013505490 A JP2013505490 A JP 2013505490A JP 2013529071 A5 JP2013529071 A5 JP 2013529071A5

Authority

JP

Japan

Prior art keywords

factor viii

snp

item

individual

risk

Prior art date

2011-04-21

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.)

Granted

Links

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• 238000000034 method Methods 0.000 claims description 83
• 102000001690 Factor VIII Human genes 0.000 claims description 69
• 108010054218 Factor VIII Proteins 0.000 claims description 69
• 229960000301 factor viii Drugs 0.000 claims description 69
• 238000009007 Diagnostic Kit Methods 0.000 claims description 34
• 108091034117 Oligonucleotide Proteins 0.000 claims description 33
• 239000002773 nucleotide Substances 0.000 claims description 17
• 125000003729 nucleotide group Chemical group 0.000 claims description 17
• 208000031220 Hemophilia Diseases 0.000 claims description 15
• 208000009292 Hemophilia A Diseases 0.000 claims description 15
• 238000002493 microarray Methods 0.000 claims description 14
• 229940030225 antihemorrhagics Drugs 0.000 claims description 12
• 239000002874 hemostatic agent Substances 0.000 claims description 12
• 150000007523 nucleic acids Chemical class 0.000 claims description 8
• 238000012163 sequencing technique Methods 0.000 claims description 8
• 239000012472 biological sample Substances 0.000 claims description 5
• 230000000295 complement effect Effects 0.000 claims description 5
• 238000009396 hybridization Methods 0.000 claims description 5
• 108020004414 DNA Proteins 0.000 claims description 4
• 238000001514 detection method Methods 0.000 claims description 4
• 102000053602 DNA Human genes 0.000 claims description 2
• 102000004190 Enzymes Human genes 0.000 claims description 2
• 108090000790 Enzymes Proteins 0.000 claims description 2
• 238000003556 assay Methods 0.000 claims description 2
• 238000004949 mass spectrometry Methods 0.000 claims description 2
• 238000002844 melting Methods 0.000 claims description 2
• 230000008018 melting Effects 0.000 claims description 2
• 108020004707 nucleic acids Proteins 0.000 claims description 2
• 102000039446 nucleic acids Human genes 0.000 claims description 2
• 238000012175 pyrosequencing Methods 0.000 claims description 2
• 238000003757 reverse transcription PCR Methods 0.000 claims description 2
• 239000007790 solid phase Substances 0.000 claims description 2
• 238000002560 therapeutic procedure Methods 0.000 claims description 2
• 239000000523 sample Substances 0.000 claims 5
• 230000001105 regulatory effect Effects 0.000 claims 3
• 108020005187 Oligonucleotide Probes Proteins 0.000 claims 1
• 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 claims 1
• 230000007423 decrease Effects 0.000 claims 1
• 239000002751 oligonucleotide probe Substances 0.000 claims 1
• 239000007787 solid Substances 0.000 claims 1