CA1301671C - Adn provenant du gene de la dystrophie musculaire type duchenne - Google Patents
Adn provenant du gene de la dystrophie musculaire type duchenneInfo
- Publication number
- CA1301671C CA1301671C CA000525918A CA525918A CA1301671C CA 1301671 C CA1301671 C CA 1301671C CA 000525918 A CA000525918 A CA 000525918A CA 525918 A CA525918 A CA 525918A CA 1301671 C CA1301671 C CA 1301671C
- Authority
- CA
- Canada
- Prior art keywords
- dna
- chromosome
- translocation
- gene
- muscular dystrophy
- 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.)
- Expired - Fee Related
Links
- 108090000623 proteins and genes Proteins 0.000 title abstract description 42
- 206010013801 Duchenne Muscular Dystrophy Diseases 0.000 title description 5
- 201000006938 muscular dystrophy Diseases 0.000 claims abstract description 32
- 210000001766 X chromosome Anatomy 0.000 claims abstract description 24
- 108020004414 DNA Proteins 0.000 claims description 65
- 239000012634 fragment Substances 0.000 claims description 49
- 230000005945 translocation Effects 0.000 claims description 44
- 239000003298 DNA probe Substances 0.000 claims description 7
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 7
- 108020003215 DNA Probes Proteins 0.000 claims description 5
- 210000002230 centromere Anatomy 0.000 claims description 5
- 238000013507 mapping Methods 0.000 claims description 5
- 210000003411 telomere Anatomy 0.000 claims description 5
- 108091035539 telomere Proteins 0.000 claims description 5
- 102000055501 telomere Human genes 0.000 claims description 5
- 239000002244 precipitate Substances 0.000 claims description 2
- 239000002773 nucleotide Substances 0.000 claims 1
- 125000003729 nucleotide group Chemical group 0.000 claims 1
- 239000000523 sample Substances 0.000 abstract description 39
- 201000010099 disease Diseases 0.000 abstract description 9
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 abstract description 9
- 239000000969 carrier Substances 0.000 abstract description 6
- 230000005856 abnormality Effects 0.000 abstract description 2
- 238000011835 investigation Methods 0.000 abstract 2
- 210000000349 chromosome Anatomy 0.000 description 42
- 238000002105 Southern blotting Methods 0.000 description 19
- 210000004027 cell Anatomy 0.000 description 12
- 238000007894 restriction fragment length polymorphism technique Methods 0.000 description 9
- 108020001027 Ribosomal DNA Proteins 0.000 description 8
- 210000004754 hybrid cell Anatomy 0.000 description 7
- 108090000790 Enzymes Proteins 0.000 description 6
- 102000004190 Enzymes Human genes 0.000 description 6
- 238000012217 deletion Methods 0.000 description 6
- 230000037430 deletion Effects 0.000 description 6
- WYWHKKSPHMUBEB-UHFFFAOYSA-N tioguanine Chemical compound N1C(N)=NC(=S)C2=C1N=CN2 WYWHKKSPHMUBEB-UHFFFAOYSA-N 0.000 description 6
- 239000002299 complementary DNA Substances 0.000 description 5
- 210000004090 human X chromosome Anatomy 0.000 description 5
- 210000003917 human chromosome Anatomy 0.000 description 5
- 238000000034 method Methods 0.000 description 5
- 108091008146 restriction endonucleases Proteins 0.000 description 5
- 238000005204 segregation Methods 0.000 description 5
- 239000000020 Nitrocellulose Substances 0.000 description 4
- 238000009396 hybridization Methods 0.000 description 4
- 229920001220 nitrocellulos Polymers 0.000 description 4
- 108700022487 rRNA Genes Proteins 0.000 description 4
- 108010091358 Hypoxanthine Phosphoribosyltransferase Proteins 0.000 description 3
- 208000037065 Subacute sclerosing leukoencephalitis Diseases 0.000 description 3
- 206010042297 Subacute sclerosing panencephalitis Diseases 0.000 description 3
- 238000004458 analytical method Methods 0.000 description 3
- 238000013459 approach Methods 0.000 description 3
- 238000002955 isolation Methods 0.000 description 3
- 239000013612 plasmid Substances 0.000 description 3
- 229960003087 tioguanine Drugs 0.000 description 3
- 239000013598 vector Substances 0.000 description 3
- 108091032973 (ribonucleotides)n+m Proteins 0.000 description 2
- ZHNUHDYFZUAESO-UHFFFAOYSA-N Formamide Chemical compound NC=O ZHNUHDYFZUAESO-UHFFFAOYSA-N 0.000 description 2
- 102000018251 Hypoxanthine Phosphoribosyltransferase Human genes 0.000 description 2
- IQFYYKKMVGJFEH-XLPZGREQSA-N Thymidine Chemical compound O=C1NC(=O)C(C)=CN1[C@@H]1O[C@H](CO)[C@@H](O)C1 IQFYYKKMVGJFEH-XLPZGREQSA-N 0.000 description 2
- 230000002159 abnormal effect Effects 0.000 description 2
- 238000000211 autoradiogram Methods 0.000 description 2
- 238000012512 characterization method Methods 0.000 description 2
- 230000002759 chromosomal effect Effects 0.000 description 2
- 238000010367 cloning Methods 0.000 description 2
- 230000002950 deficient Effects 0.000 description 2
- 238000003745 diagnosis Methods 0.000 description 2
- 101150015424 dmd gene Proteins 0.000 description 2
- 238000001962 electrophoresis Methods 0.000 description 2
- 230000002068 genetic effect Effects 0.000 description 2
- 210000005260 human cell Anatomy 0.000 description 2
- FDGQSTZJBFJUBT-UHFFFAOYSA-N hypoxanthine Chemical compound O=C1NC=NC2=C1NC=N2 FDGQSTZJBFJUBT-UHFFFAOYSA-N 0.000 description 2
- 230000035772 mutation Effects 0.000 description 2
- 102000004169 proteins and genes Human genes 0.000 description 2
- 238000012360 testing method Methods 0.000 description 2
- LPMXVESGRSUGHW-UHFFFAOYSA-N Acolongiflorosid K Natural products OC1C(O)C(O)C(C)OC1OC1CC2(O)CCC3C4(O)CCC(C=5COC(=O)C=5)C4(C)CC(O)C3C2(CO)C(O)C1 LPMXVESGRSUGHW-UHFFFAOYSA-N 0.000 description 1
- 241000972773 Aulopiformes Species 0.000 description 1
- DWRXFEITVBNRMK-UHFFFAOYSA-N Beta-D-1-Arabinofuranosylthymine Natural products O=C1NC(=O)C(C)=CN1C1C(O)C(O)C(CO)O1 DWRXFEITVBNRMK-UHFFFAOYSA-N 0.000 description 1
- 108010077544 Chromatin Proteins 0.000 description 1
- 241000699802 Cricetulus griseus Species 0.000 description 1
- KCXVZYZYPLLWCC-UHFFFAOYSA-N EDTA Chemical compound OC(=O)CN(CC(O)=O)CCN(CC(O)=O)CC(O)=O KCXVZYZYPLLWCC-UHFFFAOYSA-N 0.000 description 1
- 241000588724 Escherichia coli Species 0.000 description 1
- 241001524679 Escherichia virus M13 Species 0.000 description 1
- UGQMRVRMYYASKQ-UHFFFAOYSA-N Hypoxanthine nucleoside Natural products OC1C(O)C(CO)OC1N1C(NC=NC2=O)=C2N=C1 UGQMRVRMYYASKQ-UHFFFAOYSA-N 0.000 description 1
- 108091023242 Internal transcribed spacer Proteins 0.000 description 1
- FBOZXECLQNJBKD-ZDUSSCGKSA-N L-methotrexate Chemical compound C=1N=C2N=C(N)N=C(N)C2=NC=1CN(C)C1=CC=C(C(=O)N[C@@H](CCC(O)=O)C(O)=O)C=C1 FBOZXECLQNJBKD-ZDUSSCGKSA-N 0.000 description 1
- 241000711408 Murine respirovirus Species 0.000 description 1
- LPMXVESGRSUGHW-GHYGWZAOSA-N Ouabain Natural products O([C@@H]1[C@@H](O)[C@@H](O)[C@@H](O)[C@H](C)O1)[C@H]1C[C@@H](O)[C@@]2(CO)[C@@](O)(C1)CC[C@H]1[C@]3(O)[C@@](C)([C@H](C4=CC(=O)OC4)CC3)C[C@@H](O)[C@H]21 LPMXVESGRSUGHW-GHYGWZAOSA-N 0.000 description 1
- 108091081062 Repeated sequence (DNA) Proteins 0.000 description 1
- 241001468001 Salmonella virus SP6 Species 0.000 description 1
- FAPWRFPIFSIZLT-UHFFFAOYSA-M Sodium chloride Chemical compound [Na+].[Cl-] FAPWRFPIFSIZLT-UHFFFAOYSA-M 0.000 description 1
- 244000166550 Strophanthus gratus Species 0.000 description 1
- 208000017413 Taqi polymorphism Diseases 0.000 description 1
- ATJFFYVFTNAWJD-UHFFFAOYSA-N Tin Chemical compound [Sn] ATJFFYVFTNAWJD-UHFFFAOYSA-N 0.000 description 1
- 239000002253 acid Substances 0.000 description 1
- 150000007513 acids Chemical class 0.000 description 1
- 239000011543 agarose gel Substances 0.000 description 1
- 230000000890 antigenic effect Effects 0.000 description 1
- 238000000376 autoradiography Methods 0.000 description 1
- IQFYYKKMVGJFEH-UHFFFAOYSA-N beta-L-thymidine Natural products O=C1NC(=O)C(C)=CN1C1OC(CO)C(O)C1 IQFYYKKMVGJFEH-UHFFFAOYSA-N 0.000 description 1
- 230000015572 biosynthetic process Effects 0.000 description 1
- 210000003483 chromatin Anatomy 0.000 description 1
- 230000007547 defect Effects 0.000 description 1
- 238000011161 development Methods 0.000 description 1
- 229960000633 dextran sulfate Drugs 0.000 description 1
- 210000001840 diploid cell Anatomy 0.000 description 1
- 230000000694 effects Effects 0.000 description 1
- 210000002950 fibroblast Anatomy 0.000 description 1
- 230000004927 fusion Effects 0.000 description 1
- 238000012252 genetic analysis Methods 0.000 description 1
- 238000000338 in vitro Methods 0.000 description 1
- 230000002779 inactivation Effects 0.000 description 1
- 231100000518 lethal Toxicity 0.000 description 1
- 230000001665 lethal effect Effects 0.000 description 1
- 230000004807 localization Effects 0.000 description 1
- 239000000463 material Substances 0.000 description 1
- 229960000485 methotrexate Drugs 0.000 description 1
- 244000005700 microbiome Species 0.000 description 1
- 230000003278 mimic effect Effects 0.000 description 1
- 238000007479 molecular analysis Methods 0.000 description 1
- 239000003068 molecular probe Substances 0.000 description 1
- 108020004707 nucleic acids Proteins 0.000 description 1
- 102000039446 nucleic acids Human genes 0.000 description 1
- 150000007523 nucleic acids Chemical class 0.000 description 1
- 230000008520 organization Effects 0.000 description 1
- LPMXVESGRSUGHW-HBYQJFLCSA-N ouabain Chemical compound O[C@@H]1[C@H](O)[C@@H](O)[C@H](C)O[C@H]1O[C@@H]1C[C@@]2(O)CC[C@H]3[C@@]4(O)CC[C@H](C=5COC(=O)C=5)[C@@]4(C)C[C@@H](O)[C@@H]3[C@@]2(CO)[C@H](O)C1 LPMXVESGRSUGHW-HBYQJFLCSA-N 0.000 description 1
- 229960003343 ouabain Drugs 0.000 description 1
- 238000007747 plating Methods 0.000 description 1
- 102000054765 polymorphisms of proteins Human genes 0.000 description 1
- 238000003793 prenatal diagnosis Methods 0.000 description 1
- 239000000047 product Substances 0.000 description 1
- 230000008707 rearrangement Effects 0.000 description 1
- 230000001105 regulatory effect Effects 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 230000000717 retained effect Effects 0.000 description 1
- 210000003705 ribosome Anatomy 0.000 description 1
- 229920002477 rna polymer Polymers 0.000 description 1
- 235000019515 salmon Nutrition 0.000 description 1
- 238000012216 screening Methods 0.000 description 1
- 229910000162 sodium phosphate Inorganic materials 0.000 description 1
- 239000001488 sodium phosphate Substances 0.000 description 1
- 239000007787 solid Substances 0.000 description 1
- 125000006850 spacer group Chemical group 0.000 description 1
- 238000010561 standard procedure Methods 0.000 description 1
- 238000003786 synthesis reaction Methods 0.000 description 1
- 229940104230 thymidine Drugs 0.000 description 1
- 229910052718 tin Inorganic materials 0.000 description 1
- 238000013518 transcription Methods 0.000 description 1
- 230000035897 transcription Effects 0.000 description 1
- 238000013519 translation Methods 0.000 description 1
- RYFMWSXOAZQYPI-UHFFFAOYSA-K trisodium phosphate Chemical compound [Na+].[Na+].[Na+].[O-]P([O-])([O-])=O RYFMWSXOAZQYPI-UHFFFAOYSA-K 0.000 description 1
- 241001515965 unidentified phage Species 0.000 description 1
- 238000012800 visualization Methods 0.000 description 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
- C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
- C07K14/4707—Muscular dystrophy
- C07K14/4708—Duchenne dystrophy
-
- 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
Landscapes
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Analytical Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Biochemistry (AREA)
- Biophysics (AREA)
- Engineering & Computer Science (AREA)
- Wood Science & Technology (AREA)
- Molecular Biology (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Biotechnology (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- Pathology (AREA)
- Toxicology (AREA)
- Gastroenterology & Hepatology (AREA)
- Medicinal Chemistry (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CA000525918A CA1301671C (fr) | 1986-12-19 | 1986-12-19 | Adn provenant du gene de la dystrophie musculaire type duchenne |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CA000525918A CA1301671C (fr) | 1986-12-19 | 1986-12-19 | Adn provenant du gene de la dystrophie musculaire type duchenne |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA1301671C true CA1301671C (fr) | 1992-05-26 |
Family
ID=4134600
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA000525918A Expired - Fee Related CA1301671C (fr) | 1986-12-19 | 1986-12-19 | Adn provenant du gene de la dystrophie musculaire type duchenne |
Country Status (1)
| Country | Link |
|---|---|
| CA (1) | CA1301671C (fr) |
Cited By (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5698686A (en) * | 1994-10-20 | 1997-12-16 | Arch Development Corporation | Yeast telomerase compositions |
-
1986
- 1986-12-19 CA CA000525918A patent/CA1301671C/fr not_active Expired - Fee Related
Cited By (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5698686A (en) * | 1994-10-20 | 1997-12-16 | Arch Development Corporation | Yeast telomerase compositions |
| US5916752A (en) * | 1994-10-20 | 1999-06-29 | Arch Development Corporation | Telomerase screening methods |
| US6387619B1 (en) | 1994-10-20 | 2002-05-14 | Arch Development | Telomerase compositions and methods |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| O'Connell et al. | A primary genetic linkage map for human chromosome 12 | |
| Little et al. | Model for antenatal diagnosis of β-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms | |
| Ellis et al. | Molecular genetics of Bloom's syndrome | |
| Petit et al. | Physical mapping of the human pseudo‐autosomal region; comparison with genetic linkage map. | |
| Page et al. | Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. | |
| Brown et al. | Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism | |
| F. Davles et al. | Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region | |
| Kremer et al. | Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p (CCG) n | |
| Myers et al. | Molecular cloning of alpha 5 (IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus | |
| Smith et al. | Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36. 1–p34 | |
| Segal et al. | Correlation of genetic and physical structure in the region surrounding the I 2 Fusarium oxysporum resistance locus in tomato | |
| Brueton et al. | The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. | |
| Baas et al. | The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24 | |
| Pohl et al. | Construction of a Not I linking library and isolation of new markers close to the Huntington's disease gene | |
| Meo et al. | Linkage analyses of murine immunoglobulin heavy chain and serum prealbumin genes establish their location on chromosome 12 proximal to the T (5; 12) 31H breakpoint in band 12F1. | |
| Burk et al. | Characterization and evolution of a single-copy sequence from the human Y chromosome | |
| Hu et al. | Genetic and physical mapping of the natural resistance-associated macrophage protein 1 (NRAMP1) in chicken | |
| Patterson et al. | Physical mapping studies on the human X chromosome in the region Xq27-Xqter | |
| Montermini et al. | The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13 | |
| Mazarakis et al. | Isolation and characterisation of a testis-expressed developmentally regulated gene from the distal inversion of the mouse t-complex | |
| Stubbs et al. | The HOX-5 and surfeit gene clusters are linked in the proximal portion of mouse chromosome 2 | |
| Glaser et al. | Localization of the muscle, liver, and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12, and 2, respectively | |
| Reeves et al. | Mapping of PRM 1 to human chromosome 16 and tight linkage of Prm-1 and Prm-2 on mouse chromosome 16 | |
| Lathrop et al. | Twenty-five loci form a continuous linkage map of markers for human chromosome 7 | |
| Wheeler et al. | Microconversion between murine H-2 genes integrated into yeast |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| MKLA | Lapsed |