CA2977808A1 - Methods and reagents for predicting predisposition to refractive error - Google Patents
Methods and reagents for predicting predisposition to refractive error Download PDFInfo
- Publication number
- CA2977808A1 CA2977808A1 CA2977808A CA2977808A CA2977808A1 CA 2977808 A1 CA2977808 A1 CA 2977808A1 CA 2977808 A CA2977808 A CA 2977808A CA 2977808 A CA2977808 A CA 2977808A CA 2977808 A1 CA2977808 A1 CA 2977808A1
- Authority
- CA
- Canada
- Prior art keywords
- exon
- mrna
- opsin gene
- opsin
- seq
- 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.)
- Pending
Links
- 238000000034 method Methods 0.000 title claims abstract description 64
- 208000014733 refractive error Diseases 0.000 title claims abstract description 61
- 239000003153 chemical reaction reagent Substances 0.000 title abstract description 4
- 108050001704 Opsin Proteins 0.000 claims abstract description 141
- 230000007547 defect Effects 0.000 claims abstract description 23
- 239000012472 biological sample Substances 0.000 claims abstract description 22
- 238000012360 testing method Methods 0.000 claims abstract description 15
- 108020004999 messenger RNA Proteins 0.000 claims description 117
- 239000002299 complementary DNA Substances 0.000 claims description 56
- 230000003321 amplification Effects 0.000 claims description 46
- 238000003199 nucleic acid amplification method Methods 0.000 claims description 46
- 102000010175 Opsin Human genes 0.000 claims description 37
- 239000002773 nucleotide Substances 0.000 claims description 32
- 125000003729 nucleotide group Chemical group 0.000 claims description 32
- 230000000295 complement effect Effects 0.000 claims description 27
- 108090000623 proteins and genes Proteins 0.000 claims description 26
- 208000001491 myopia Diseases 0.000 claims description 24
- 230000004379 myopia Effects 0.000 claims description 23
- 239000000523 sample Substances 0.000 claims description 18
- 102000054767 gene variant Human genes 0.000 claims description 14
- 101000598988 Mus musculus Medium-wave-sensitive opsin 1 Proteins 0.000 claims description 13
- 238000009396 hybridization Methods 0.000 claims description 10
- 208000009278 Blue cone monochromatism Diseases 0.000 claims description 8
- 150000001413 amino acids Chemical class 0.000 claims description 8
- 201000007728 blue cone monochromacy Diseases 0.000 claims description 8
- 239000000203 mixture Substances 0.000 claims description 8
- 238000004949 mass spectrometry Methods 0.000 claims description 7
- 230000000366 juvenile effect Effects 0.000 claims description 4
- 238000003556 assay Methods 0.000 description 28
- 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 description 27
- 241000699670 Mus sp. Species 0.000 description 21
- 102000054766 genetic haplotypes Human genes 0.000 description 20
- 230000002441 reversible effect Effects 0.000 description 20
- 108010003730 Cone Opsins Proteins 0.000 description 15
- 101001137074 Homo sapiens Long-wave-sensitive opsin 1 Proteins 0.000 description 14
- 102100035576 Long-wave-sensitive opsin 1 Human genes 0.000 description 14
- 210000001766 X chromosome Anatomy 0.000 description 14
- 108700024394 Exon Proteins 0.000 description 13
- 210000001508 eye Anatomy 0.000 description 13
- 230000006870 function Effects 0.000 description 13
- 230000035772 mutation Effects 0.000 description 13
- 150000007523 nucleic acids Chemical class 0.000 description 13
- 238000003752 polymerase chain reaction Methods 0.000 description 13
- 101001010792 Homo sapiens Transcriptional regulator ERG Proteins 0.000 description 12
- 208000006992 Color Vision Defects Diseases 0.000 description 11
- 238000002571 electroretinography Methods 0.000 description 11
- 230000004438 eyesight Effects 0.000 description 11
- 241000282412 Homo Species 0.000 description 10
- 101000598987 Homo sapiens Medium-wave-sensitive opsin 1 Proteins 0.000 description 10
- 108020004707 nucleic acids Proteins 0.000 description 9
- 102000039446 nucleic acids Human genes 0.000 description 9
- 108091008695 photoreceptors Proteins 0.000 description 9
- 108020004414 DNA Proteins 0.000 description 8
- 201000007254 color blindness Diseases 0.000 description 7
- 230000000694 effects Effects 0.000 description 7
- 238000011282 treatment Methods 0.000 description 7
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 6
- 102100037812 Medium-wave-sensitive opsin 1 Human genes 0.000 description 5
- 230000001594 aberrant effect Effects 0.000 description 5
- 235000001014 amino acid Nutrition 0.000 description 5
- 229940024606 amino acid Drugs 0.000 description 5
- 210000004027 cell Anatomy 0.000 description 5
- 230000004456 color vision Effects 0.000 description 5
- 201000010099 disease Diseases 0.000 description 5
- 230000001939 inductive effect Effects 0.000 description 5
- 230000007246 mechanism Effects 0.000 description 5
- 108091028043 Nucleic acid sequence Proteins 0.000 description 4
- 230000002939 deleterious effect Effects 0.000 description 4
- 238000001514 detection method Methods 0.000 description 4
- 238000003500 gene array Methods 0.000 description 4
- 239000000463 material Substances 0.000 description 4
- 238000007481 next generation sequencing Methods 0.000 description 4
- 239000000049 pigment Substances 0.000 description 4
- 230000004853 protein function Effects 0.000 description 4
- 102000004169 proteins and genes Human genes 0.000 description 4
- 238000013519 translation Methods 0.000 description 4
- 108091032973 (ribonucleotides)n+m Proteins 0.000 description 3
- 108700028369 Alleles Proteins 0.000 description 3
- DHMQDGOQFOQNFH-UHFFFAOYSA-N Glycine Chemical compound NCC(O)=O DHMQDGOQFOQNFH-UHFFFAOYSA-N 0.000 description 3
- QNAYBMKLOCPYGJ-REOHCLBHSA-N L-alanine Chemical compound C[C@H](N)C(O)=O QNAYBMKLOCPYGJ-REOHCLBHSA-N 0.000 description 3
- 241000699666 Mus <mouse, genus> Species 0.000 description 3
- MTCFGRXMJLQNBG-UHFFFAOYSA-N Serine Natural products OCC(N)C(O)=O MTCFGRXMJLQNBG-UHFFFAOYSA-N 0.000 description 3
- 101710106192 Short-wave-sensitive opsin 1 Proteins 0.000 description 3
- KZSNJWFQEVHDMF-UHFFFAOYSA-N Valine Natural products CC(C)C(N)C(O)=O KZSNJWFQEVHDMF-UHFFFAOYSA-N 0.000 description 3
- 230000002159 abnormal effect Effects 0.000 description 3
- 230000003044 adaptive effect Effects 0.000 description 3
- 235000004279 alanine Nutrition 0.000 description 3
- 230000004075 alteration Effects 0.000 description 3
- 210000004369 blood Anatomy 0.000 description 3
- 239000008280 blood Substances 0.000 description 3
- 239000000969 carrier Substances 0.000 description 3
- 230000006735 deficit Effects 0.000 description 3
- 238000011161 development Methods 0.000 description 3
- 230000018109 developmental process Effects 0.000 description 3
- 238000003384 imaging method Methods 0.000 description 3
- 230000003287 optical effect Effects 0.000 description 3
- 230000000750 progressive effect Effects 0.000 description 3
- 230000006798 recombination Effects 0.000 description 3
- 238000005215 recombination Methods 0.000 description 3
- 210000001525 retina Anatomy 0.000 description 3
- 210000003296 saliva Anatomy 0.000 description 3
- 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 2
- NCYCYZXNIZJOKI-IOUUIBBYSA-N 11-cis-retinal Chemical compound O=C/C=C(\C)/C=C\C=C(/C)\C=C\C1=C(C)CCCC1(C)C NCYCYZXNIZJOKI-IOUUIBBYSA-N 0.000 description 2
- VWEWCZSUWOEEFM-WDSKDSINSA-N Ala-Gly-Ala-Gly Chemical compound C[C@H](N)C(=O)NCC(=O)N[C@@H](C)C(=O)NCC(O)=O VWEWCZSUWOEEFM-WDSKDSINSA-N 0.000 description 2
- 241000282693 Cercopithecidae Species 0.000 description 2
- 108091026890 Coding region Proteins 0.000 description 2
- 208000036693 Color-vision disease Diseases 0.000 description 2
- 201000003883 Cystic fibrosis Diseases 0.000 description 2
- 102000053602 DNA Human genes 0.000 description 2
- 206010013801 Duchenne Muscular Dystrophy Diseases 0.000 description 2
- 208000010412 Glaucoma Diseases 0.000 description 2
- WHUUTDBJXJRKMK-UHFFFAOYSA-N Glutamic acid Natural products OC(=O)C(N)CCC(O)=O WHUUTDBJXJRKMK-UHFFFAOYSA-N 0.000 description 2
- 241001272567 Hominoidea Species 0.000 description 2
- 206010020675 Hypermetropia Diseases 0.000 description 2
- 108091092195 Intron Proteins 0.000 description 2
- DCXYFEDJOCDNAF-REOHCLBHSA-N L-asparagine Chemical compound OC(=O)[C@@H](N)CC(N)=O DCXYFEDJOCDNAF-REOHCLBHSA-N 0.000 description 2
- CKLJMWTZIZZHCS-REOHCLBHSA-N L-aspartic acid Chemical compound OC(=O)[C@@H](N)CC(O)=O CKLJMWTZIZZHCS-REOHCLBHSA-N 0.000 description 2
- AGPKZVBTJJNPAG-WHFBIAKZSA-N L-isoleucine Chemical compound CC[C@H](C)[C@H](N)C(O)=O AGPKZVBTJJNPAG-WHFBIAKZSA-N 0.000 description 2
- ROHFNLRQFUQHCH-YFKPBYRVSA-N L-leucine Chemical compound CC(C)C[C@H](N)C(O)=O ROHFNLRQFUQHCH-YFKPBYRVSA-N 0.000 description 2
- COLNVLDHVKWLRT-QMMMGPOBSA-N L-phenylalanine Chemical compound OC(=O)[C@@H](N)CC1=CC=CC=C1 COLNVLDHVKWLRT-QMMMGPOBSA-N 0.000 description 2
- OUYCCCASQSFEME-QMMMGPOBSA-N L-tyrosine Chemical compound OC(=O)[C@@H](N)CC1=CC=C(O)C=C1 OUYCCCASQSFEME-QMMMGPOBSA-N 0.000 description 2
- KZSNJWFQEVHDMF-BYPYZUCNSA-N L-valine Chemical compound CC(C)[C@H](N)C(O)=O KZSNJWFQEVHDMF-BYPYZUCNSA-N 0.000 description 2
- KDXKERNSBIXSRK-UHFFFAOYSA-N Lysine Natural products NCCCCC(N)C(O)=O KDXKERNSBIXSRK-UHFFFAOYSA-N 0.000 description 2
- 101150040964 OPN1LW gene Proteins 0.000 description 2
- 108091034117 Oligonucleotide Proteins 0.000 description 2
- 241000288906 Primates Species 0.000 description 2
- 108010029485 Protein Isoforms Proteins 0.000 description 2
- 102000001708 Protein Isoforms Human genes 0.000 description 2
- 238000011529 RT qPCR Methods 0.000 description 2
- 208000007014 Retinitis pigmentosa Diseases 0.000 description 2
- 102000004330 Rhodopsin Human genes 0.000 description 2
- 108090000820 Rhodopsin Proteins 0.000 description 2
- 108091081021 Sense strand Proteins 0.000 description 2
- 108020004682 Single-Stranded DNA Proteins 0.000 description 2
- 230000000692 anti-sense effect Effects 0.000 description 2
- 201000009310 astigmatism Diseases 0.000 description 2
- 230000000453 cell autonomous effect Effects 0.000 description 2
- 230000008859 change Effects 0.000 description 2
- 238000000576 coating method Methods 0.000 description 2
- 210000004087 cornea Anatomy 0.000 description 2
- 230000007850 degeneration Effects 0.000 description 2
- 230000001419 dependent effect Effects 0.000 description 2
- 238000009792 diffusion process Methods 0.000 description 2
- 230000004064 dysfunction Effects 0.000 description 2
- 208000030533 eye disease Diseases 0.000 description 2
- MHMNJMPURVTYEJ-UHFFFAOYSA-N fluorescein-5-isothiocyanate Chemical compound O1C(=O)C2=CC(N=C=S)=CC=C2C21C1=CC=C(O)C=C1OC1=CC(O)=CC=C21 MHMNJMPURVTYEJ-UHFFFAOYSA-N 0.000 description 2
- 230000014509 gene expression Effects 0.000 description 2
- 230000002068 genetic effect Effects 0.000 description 2
- 239000011521 glass Substances 0.000 description 2
- PCHJSUWPFVWCPO-UHFFFAOYSA-N gold Chemical compound [Au] PCHJSUWPFVWCPO-UHFFFAOYSA-N 0.000 description 2
- 230000006801 homologous recombination Effects 0.000 description 2
- 238000002744 homologous recombination Methods 0.000 description 2
- 201000006318 hyperopia Diseases 0.000 description 2
- 230000004305 hyperopia Effects 0.000 description 2
- 238000010348 incorporation Methods 0.000 description 2
- AGPKZVBTJJNPAG-UHFFFAOYSA-N isoleucine Natural products CCC(C)C(N)C(O)=O AGPKZVBTJJNPAG-UHFFFAOYSA-N 0.000 description 2
- 229960000310 isoleucine Drugs 0.000 description 2
- 230000001404 mediated effect Effects 0.000 description 2
- 230000000869 mutational effect Effects 0.000 description 2
- 201000010041 presbyopia Diseases 0.000 description 2
- 230000008569 process Effects 0.000 description 2
- 235000018102 proteins Nutrition 0.000 description 2
- 230000008707 rearrangement Effects 0.000 description 2
- 201000000757 red-green color blindness Diseases 0.000 description 2
- 238000011160 research Methods 0.000 description 2
- 230000002207 retinal effect Effects 0.000 description 2
- 238000012552 review Methods 0.000 description 2
- 102200141512 rs104893768 Human genes 0.000 description 2
- 230000003595 spectral effect Effects 0.000 description 2
- 238000001356 surgical procedure Methods 0.000 description 2
- 238000011144 upstream manufacturing Methods 0.000 description 2
- 239000004474 valine Substances 0.000 description 2
- 230000000007 visual effect Effects 0.000 description 2
- 208000036443 AIPL1-related retinopathy Diseases 0.000 description 1
- 102000002260 Alkaline Phosphatase Human genes 0.000 description 1
- 108020004774 Alkaline Phosphatase Proteins 0.000 description 1
- 239000004475 Arginine Substances 0.000 description 1
- DCXYFEDJOCDNAF-UHFFFAOYSA-N Asparagine Natural products OC(=O)C(N)CC(N)=O DCXYFEDJOCDNAF-UHFFFAOYSA-N 0.000 description 1
- 201000004569 Blindness Diseases 0.000 description 1
- 208000002177 Cataract Diseases 0.000 description 1
- 208000017667 Chronic Disease Diseases 0.000 description 1
- 206010010356 Congenital anomaly Diseases 0.000 description 1
- 238000007400 DNA extraction Methods 0.000 description 1
- 102000004190 Enzymes Human genes 0.000 description 1
- 108090000790 Enzymes Proteins 0.000 description 1
- 239000004471 Glycine Substances 0.000 description 1
- 108010001336 Horseradish Peroxidase Proteins 0.000 description 1
- FFEARJCKVFRZRR-BYPYZUCNSA-N L-methionine Chemical compound CSCC[C@H](N)C(O)=O FFEARJCKVFRZRR-BYPYZUCNSA-N 0.000 description 1
- QIVBCDIJIAJPQS-VIFPVBQESA-N L-tryptophane Chemical compound C1=CC=C2C(C[C@H](N)C(O)=O)=CNC2=C1 QIVBCDIJIAJPQS-VIFPVBQESA-N 0.000 description 1
- ROHFNLRQFUQHCH-UHFFFAOYSA-N Leucine Natural products CC(C)CC(N)C(O)=O ROHFNLRQFUQHCH-UHFFFAOYSA-N 0.000 description 1
- 108060001084 Luciferase Proteins 0.000 description 1
- 239000005089 Luciferase Substances 0.000 description 1
- 239000004472 Lysine Substances 0.000 description 1
- 101150114678 OPN1MW gene Proteins 0.000 description 1
- 108020005187 Oligonucleotide Probes Proteins 0.000 description 1
- 108700026244 Open Reading Frames Proteins 0.000 description 1
- 102000017794 Perilipin-2 Human genes 0.000 description 1
- 108010067163 Perilipin-2 Proteins 0.000 description 1
- 206010035148 Plague Diseases 0.000 description 1
- 208000034461 Progressive cone dystrophy Diseases 0.000 description 1
- ONIBWKKTOPOVIA-UHFFFAOYSA-N Proline Natural products OC(=O)C1CCCN1 ONIBWKKTOPOVIA-UHFFFAOYSA-N 0.000 description 1
- 238000003559 RNA-seq method Methods 0.000 description 1
- 201000007737 Retinal degeneration Diseases 0.000 description 1
- 206010038848 Retinal detachment Diseases 0.000 description 1
- 208000017442 Retinal disease Diseases 0.000 description 1
- 108020005038 Terminator Codon Proteins 0.000 description 1
- 108091036066 Three prime untranslated region Proteins 0.000 description 1
- AYFVYJQAPQTCCC-UHFFFAOYSA-N Threonine Natural products CC(O)C(N)C(O)=O AYFVYJQAPQTCCC-UHFFFAOYSA-N 0.000 description 1
- 239000004473 Threonine Substances 0.000 description 1
- QIVBCDIJIAJPQS-UHFFFAOYSA-N Tryptophan Natural products C1=CC=C2C(CC(N)C(O)=O)=CNC2=C1 QIVBCDIJIAJPQS-UHFFFAOYSA-N 0.000 description 1
- 108700029631 X-Linked Genes Proteins 0.000 description 1
- 208000028515 X-linked cone dysfunction syndrome with myopia Diseases 0.000 description 1
- 241000607479 Yersinia pestis Species 0.000 description 1
- 238000011374 additional therapy Methods 0.000 description 1
- 230000032683 aging Effects 0.000 description 1
- 238000007844 allele-specific PCR Methods 0.000 description 1
- 125000000539 amino acid group Chemical group 0.000 description 1
- 210000004381 amniotic fluid Anatomy 0.000 description 1
- 238000004458 analytical method Methods 0.000 description 1
- ODKSFYDXXFIFQN-UHFFFAOYSA-N arginine Natural products OC(=O)C(N)CCCNC(N)=N ODKSFYDXXFIFQN-UHFFFAOYSA-N 0.000 description 1
- 238000003491 array Methods 0.000 description 1
- 235000009582 asparagine Nutrition 0.000 description 1
- 229960001230 asparagine Drugs 0.000 description 1
- 235000003704 aspartic acid Nutrition 0.000 description 1
- 238000009227 behaviour therapy Methods 0.000 description 1
- 230000008901 benefit Effects 0.000 description 1
- 102000005936 beta-Galactosidase Human genes 0.000 description 1
- 108010005774 beta-Galactosidase Proteins 0.000 description 1
- OQFSQFPPLPISGP-UHFFFAOYSA-N beta-carboxyaspartic acid Natural products OC(=O)C(N)C(C(O)=O)C(O)=O OQFSQFPPLPISGP-UHFFFAOYSA-N 0.000 description 1
- 238000001574 biopsy Methods 0.000 description 1
- 229960002685 biotin Drugs 0.000 description 1
- 235000020958 biotin Nutrition 0.000 description 1
- 239000011616 biotin Substances 0.000 description 1
- 230000000903 blocking effect Effects 0.000 description 1
- 210000005252 bulbus oculi Anatomy 0.000 description 1
- -1 but not limited to Substances 0.000 description 1
- 238000004113 cell culture Methods 0.000 description 1
- 238000012512 characterization method Methods 0.000 description 1
- 239000002131 composite material Substances 0.000 description 1
- 201000008615 cone dystrophy Diseases 0.000 description 1
- 201000006754 cone-rod dystrophy Diseases 0.000 description 1
- 108091036078 conserved sequence Proteins 0.000 description 1
- 230000001276 controlling effect Effects 0.000 description 1
- 238000012937 correction Methods 0.000 description 1
- 235000018417 cysteine Nutrition 0.000 description 1
- XUJNEKJLAYXESH-UHFFFAOYSA-N cysteine Natural products SCC(N)C(O)=O XUJNEKJLAYXESH-UHFFFAOYSA-N 0.000 description 1
- 230000003412 degenerative effect Effects 0.000 description 1
- 238000012217 deletion Methods 0.000 description 1
- 230000037430 deletion Effects 0.000 description 1
- SOCTUWSJJQCPFX-UHFFFAOYSA-N dichromate(2-) Chemical compound [O-][Cr](=O)(=O)O[Cr]([O-])(=O)=O SOCTUWSJJQCPFX-UHFFFAOYSA-N 0.000 description 1
- 208000035475 disorder Diseases 0.000 description 1
- 239000000975 dye Substances 0.000 description 1
- 238000005516 engineering process Methods 0.000 description 1
- 230000007717 exclusion Effects 0.000 description 1
- 239000002360 explosive Substances 0.000 description 1
- 239000013604 expression vector Substances 0.000 description 1
- 239000007850 fluorescent dye Substances 0.000 description 1
- 238000007429 general method Methods 0.000 description 1
- 238000012252 genetic analysis Methods 0.000 description 1
- 230000007614 genetic variation Effects 0.000 description 1
- 238000003205 genotyping method Methods 0.000 description 1
- 235000013922 glutamic acid Nutrition 0.000 description 1
- 239000004220 glutamic acid Substances 0.000 description 1
- ZDXPYRJPNDTMRX-UHFFFAOYSA-N glutamine Natural products OC(=O)C(N)CCC(N)=O ZDXPYRJPNDTMRX-UHFFFAOYSA-N 0.000 description 1
- 239000010931 gold Substances 0.000 description 1
- 229910052737 gold Inorganic materials 0.000 description 1
- 230000004402 high myopia Effects 0.000 description 1
- HNDVDQJCIGZPNO-UHFFFAOYSA-N histidine Natural products OC(=O)C(N)CC1=CN=CN1 HNDVDQJCIGZPNO-UHFFFAOYSA-N 0.000 description 1
- 238000003364 immunohistochemistry Methods 0.000 description 1
- 230000008676 import Effects 0.000 description 1
- 238000000338 in vitro Methods 0.000 description 1
- 208000015181 infectious disease Diseases 0.000 description 1
- 238000011835 investigation Methods 0.000 description 1
- 238000002955 isolation Methods 0.000 description 1
- 125000000741 isoleucyl group Chemical group [H]N([H])C(C(C([H])([H])[H])C([H])([H])C([H])([H])[H])C(=O)O* 0.000 description 1
- 229910052747 lanthanoid Inorganic materials 0.000 description 1
- 150000002602 lanthanoids Chemical class 0.000 description 1
- 238000005259 measurement Methods 0.000 description 1
- 229930182817 methionine Natural products 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 230000007935 neutral effect Effects 0.000 description 1
- 239000002751 oligonucleotide probe Substances 0.000 description 1
- 230000007170 pathology Effects 0.000 description 1
- 230000001991 pathophysiological effect Effects 0.000 description 1
- 230000007310 pathophysiology Effects 0.000 description 1
- 230000037361 pathway Effects 0.000 description 1
- 230000002093 peripheral effect Effects 0.000 description 1
- COLNVLDHVKWLRT-UHFFFAOYSA-N phenylalanine Natural products OC(=O)C(N)CC1=CC=CC=C1 COLNVLDHVKWLRT-UHFFFAOYSA-N 0.000 description 1
- 239000013612 plasmid Substances 0.000 description 1
- 102000054765 polymorphisms of proteins Human genes 0.000 description 1
- 239000002243 precursor Substances 0.000 description 1
- 238000011002 quantification Methods 0.000 description 1
- 238000004445 quantitative analysis Methods 0.000 description 1
- 230000002285 radioactive effect Effects 0.000 description 1
- 230000001105 regulatory effect Effects 0.000 description 1
- 230000004044 response Effects 0.000 description 1
- 238000005316 response function Methods 0.000 description 1
- 230000000717 retained effect Effects 0.000 description 1
- 210000000964 retinal cone photoreceptor cell Anatomy 0.000 description 1
- 230000004258 retinal degeneration Effects 0.000 description 1
- 230000004264 retinal detachment Effects 0.000 description 1
- 238000012340 reverse transcriptase PCR Methods 0.000 description 1
- 238000003757 reverse transcription PCR Methods 0.000 description 1
- PYWVYCXTNDRMGF-UHFFFAOYSA-N rhodamine B Chemical compound [Cl-].C=12C=CC(=[N+](CC)CC)C=C2OC2=CC(N(CC)CC)=CC=C2C=1C1=CC=CC=C1C(O)=O PYWVYCXTNDRMGF-UHFFFAOYSA-N 0.000 description 1
- 238000012216 screening Methods 0.000 description 1
- 125000003607 serino group Chemical group [H]N([H])[C@]([H])(C(=O)[*])C(O[H])([H])[H] 0.000 description 1
- 241000894007 species Species 0.000 description 1
- 208000024891 symptom Diseases 0.000 description 1
- MPLHNVLQVRSVEE-UHFFFAOYSA-N texas red Chemical compound [O-]S(=O)(=O)C1=CC(S(Cl)(=O)=O)=CC=C1C(C1=CC=2CCCN3CCCC(C=23)=C1O1)=C2C1=C(CCC1)C3=[N+]1CCCC3=C2 MPLHNVLQVRSVEE-UHFFFAOYSA-N 0.000 description 1
- 230000001225 therapeutic effect Effects 0.000 description 1
- 210000001519 tissue Anatomy 0.000 description 1
- 238000001890 transfection Methods 0.000 description 1
- OUYCCCASQSFEME-UHFFFAOYSA-N tyrosine Natural products OC(=O)C(N)CC1=CC=C(O)C=C1 OUYCCCASQSFEME-UHFFFAOYSA-N 0.000 description 1
- 208000029257 vision disease Diseases 0.000 description 1
- 230000004304 visual acuity Effects 0.000 description 1
- 230000004393 visual impairment Effects 0.000 description 1
Classifications
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B5/00—Measuring for diagnostic purposes; Identification of persons
-
- 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
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
- C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
-
- 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
- C12Q2600/118—Prognosis of disease development
-
- 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
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Engineering & Computer Science (AREA)
- Genetics & Genomics (AREA)
- Organic Chemistry (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Molecular Biology (AREA)
- Biomedical Technology (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Analytical Chemistry (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Pathology (AREA)
- Immunology (AREA)
- Heart & Thoracic Surgery (AREA)
- Medical Informatics (AREA)
- Surgery (AREA)
- Animal Behavior & Ethology (AREA)
- Public Health (AREA)
- Veterinary Medicine (AREA)
- Plant Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201562126284P | 2015-02-27 | 2015-02-27 | |
| US62/126,284 | 2015-02-27 | ||
| PCT/US2016/020033 WO2016138512A1 (en) | 2015-02-27 | 2016-02-29 | Methods and reagents for predicting predisposition to refractive error |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA2977808A1 true CA2977808A1 (en) | 2016-09-01 |
Family
ID=56789879
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2977808A Pending CA2977808A1 (en) | 2015-02-27 | 2016-02-29 | Methods and reagents for predicting predisposition to refractive error |
Country Status (9)
| Country | Link |
|---|---|
| US (1) | US10787707B2 (enExample) |
| EP (1) | EP3261525B1 (enExample) |
| JP (1) | JP7240097B2 (enExample) |
| KR (1) | KR102551638B1 (enExample) |
| CN (1) | CN107529987B (enExample) |
| AU (1) | AU2016225033B2 (enExample) |
| CA (1) | CA2977808A1 (enExample) |
| SG (2) | SG11201706933TA (enExample) |
| WO (1) | WO2016138512A1 (enExample) |
Families Citing this family (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| AU2017306044B2 (en) | 2016-08-01 | 2022-07-14 | University Of Washington | Ophthalmic lenses for treating myopia |
| JP7222981B2 (ja) | 2017-05-08 | 2023-02-15 | サイトグラス・ヴィジョン・インコーポレイテッド | 近視を軽減するためのコンタクトレンズおよびその製造方法 |
| US10884264B2 (en) | 2018-01-30 | 2021-01-05 | Sightglass Vision, Inc. | Ophthalmic lenses with light scattering for treating myopia |
| AU2019302757B2 (en) | 2018-07-12 | 2022-09-01 | Sightglass Vision, Inc. | Methods and devices for reducing myopia in children |
| US12416818B2 (en) | 2019-03-01 | 2025-09-16 | Sightglass Vision, Inc. | Ophthalmic lenses for reducing myopic progression and methods of making the same |
| CA3137950A1 (en) | 2019-04-23 | 2020-10-29 | Sightglass Vision, Inc. | Ophthalmic lenses with dynamic optical properties for reducing development of myopia |
Family Cites Families (14)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5800992A (en) | 1989-06-07 | 1998-09-01 | Fodor; Stephen P.A. | Method of detecting nucleic acids |
| US6582908B2 (en) | 1990-12-06 | 2003-06-24 | Affymetrix, Inc. | Oligonucleotides |
| US6706867B1 (en) | 2000-12-19 | 2004-03-16 | The United States Of America As Represented By The Department Of Health And Human Services | DNA array sequence selection |
| EP1256632A3 (en) | 2001-05-07 | 2004-01-02 | Smithkline Beecham Corporation | High throughput polymorphism screening |
| US20040110179A1 (en) | 2002-03-15 | 2004-06-10 | Shuber Anthony P. | Method for alteration detection |
| DE60300792T2 (de) | 2002-05-09 | 2005-12-01 | Matsushita Electric Industrial Co., Ltd., Kadoma | Inline-Elektronenkanone und Farbbildröhre mit selbiger |
| US20050208555A1 (en) | 2004-03-16 | 2005-09-22 | Affymetrix, Inc. | Methods of genotyping |
| ITRM20050325A1 (it) | 2005-06-23 | 2006-12-24 | Univ Roma | Isoforma di splicing alternativo del gene codificante per la proteina lox-1, usi e metodi relativi. |
| US7906289B2 (en) | 2008-07-28 | 2011-03-15 | Kaohsiung Medical University | Using genetic polymorphisms of the BICD1 gene as a method for diagnosing and treating myopia |
| WO2010075319A2 (en) | 2008-12-22 | 2010-07-01 | The Medical College Of Wisconsin, Inc. | Method and apparatus for limiting growth of eye length |
| US20120172419A1 (en) * | 2009-09-15 | 2012-07-05 | Medical College Of Wisconsin Research Foundation Inc. | Reagents and methods for modulating cone photoreceptor activity |
| JP5901046B2 (ja) | 2010-02-19 | 2016-04-06 | 国立大学法人 千葉大学 | ＯＡＴＰ１Ｂ３ｍＲＮＡの新規な選択的スプライシングバリアント |
| JP6141193B2 (ja) | 2011-01-14 | 2017-06-07 | ザ ユニバーシティ オブ ワシントン スルー イッツ センター フォー コマーシャライゼーションＴｈｅ Ｕｎｉｖｅｒｓｉｔｙ Ｏｆ Ｗａｓｈｉｎｇｔｏｎ Ｔｈｒｏｕｇｈ Ｉｔｓ Ｃｅｎｔｅｒ Ｆｏｒ Ｃｏｍｍｅｒｃｉａｌｉｚａｔｉｏｎ | 患者の近視になる可能性又は眼軸長関連障害への罹りやすさを決定する方法 |
| WO2012116248A1 (en) | 2011-02-24 | 2012-08-30 | Massachusetts Institute Of Technology | ALTERNATIVELY SPLICED mRNA ISOFORMS AS PROGNOSTIC INDICATORS FOR METASTATIC CANCER |
-
2016
- 2016-02-29 CN CN201680016871.XA patent/CN107529987B/zh active Active
- 2016-02-29 JP JP2017545686A patent/JP7240097B2/ja active Active
- 2016-02-29 WO PCT/US2016/020033 patent/WO2016138512A1/en not_active Ceased
- 2016-02-29 EP EP16756539.9A patent/EP3261525B1/en active Active
- 2016-02-29 SG SG11201706933TA patent/SG11201706933TA/en unknown
- 2016-02-29 AU AU2016225033A patent/AU2016225033B2/en not_active Ceased
- 2016-02-29 CA CA2977808A patent/CA2977808A1/en active Pending
- 2016-02-29 SG SG10202102575SA patent/SG10202102575SA/en unknown
- 2016-02-29 US US15/553,418 patent/US10787707B2/en active Active
- 2016-02-29 KR KR1020177025942A patent/KR102551638B1/ko active Active
Also Published As
| Publication number | Publication date |
|---|---|
| JP2018512121A (ja) | 2018-05-17 |
| SG10202102575SA (en) | 2021-04-29 |
| US20180112268A1 (en) | 2018-04-26 |
| EP3261525A4 (en) | 2018-07-18 |
| EP3261525B1 (en) | 2021-09-29 |
| WO2016138512A1 (en) | 2016-09-01 |
| JP7240097B2 (ja) | 2023-03-15 |
| CN107529987A (zh) | 2018-01-02 |
| AU2016225033A1 (en) | 2017-10-12 |
| EP3261525A1 (en) | 2018-01-03 |
| KR20170122212A (ko) | 2017-11-03 |
| US10787707B2 (en) | 2020-09-29 |
| AU2016225033B2 (en) | 2021-11-11 |
| HK1248498A1 (zh) | 2018-10-19 |
| SG11201706933TA (en) | 2017-09-28 |
| CN107529987B (zh) | 2021-04-20 |
| KR102551638B1 (ko) | 2023-07-05 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| AU2016225033B2 (en) | Methods and reagents for predicting predisposition to refractive error | |
| Hansen et al. | Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8 | |
| Xu et al. | Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population | |
| KR102011947B1 (ko) | 눈 길이 관련 질환을 진단 및 치료하는 방법 | |
| Li et al. | The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family | |
| Han et al. | Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families | |
| Willoughby et al. | Defining the pathogenicity of optineurin in juvenile open-angle glaucoma | |
| US8182990B2 (en) | Method for diagnosing or predicting susceptibility to optic neuropathy | |
| CN106282197B (zh) | 一种遗传性视网膜色素变性疾病的致病突变及其检测试剂 | |
| Micheal et al. | Variants in the PRPF8 gene are associated with glaucoma | |
| Young | Dissecting the genetics of human high myopia: a molecular biologic approach | |
| CN108085375B (zh) | 检测角膜营养不良基因多态性位点的基因型的方法及其试剂盒 | |
| Zhao et al. | PDE4B proposed as a high myopia susceptibility gene in Chinese population | |
| HK1248498B (en) | Methods and reagents for predicting predisposition to refractive error | |
| Faugère et al. | Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay | |
| Atilano et al. | A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes | |
| CN113201588B (zh) | 用于检测先天性无虹膜并发青光眼病的snp位点、应用及产品 | |
| Midgley et al. | The impact of the c. 5603A> T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa | |
| CN104673928B (zh) | 一种遗传性视锥细胞营养不良疾病的致病突变及其检测试剂 | |
| US5733732A (en) | Methods for detecting primary adhalinopathy | |
| US20070117095A1 (en) | Diagnostic method for neonatal or infantile epilepsy syndromes | |
| TWI807159B (zh) | 判定近視發病風險的方法 | |
| Acton | Open-Angle Glaucoma: New Insights for the Healthcare Professional: 2011 Edition: ScholarlyPaper | |
| CN117821580A (zh) | Fktn基因突变体、突变体蛋白、试剂、试剂盒及应用 | |
| CN115851898A (zh) | 一种bpes综合征致病基因foxl2突变位点的应用及其诊断试剂 |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EEER | Examination request |
Effective date: 20210211 |
|
| EEER | Examination request |
Effective date: 20210211 |
|
| EEER | Examination request |
Effective date: 20210211 |
|
| EEER | Examination request |
Effective date: 20210211 |
|
| EEER | Examination request |
Effective date: 20210211 |
|
| EEER | Examination request |
Effective date: 20210211 |