CA2272410A1 - Methode de diagnostic de l'hemochromatose hereditaire - Google Patents
Methode de diagnostic de l'hemochromatose hereditaire Download PDFInfo
- Publication number
- CA2272410A1 CA2272410A1 CA 2272410 CA2272410A CA2272410A1 CA 2272410 A1 CA2272410 A1 CA 2272410A1 CA 2272410 CA2272410 CA 2272410 CA 2272410 A CA2272410 A CA 2272410A CA 2272410 A1 CA2272410 A1 CA 2272410A1
- Authority
- CA
- Canada
- Prior art keywords
- nucleotide
- mutation
- indicative
- subject
- primers
- 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
- 208000033981 Hereditary haemochromatosis Diseases 0.000 title claims abstract description 15
- 238000000034 method Methods 0.000 title claims description 47
- 238000003745 diagnosis Methods 0.000 title claims description 7
- 230000035772 mutation Effects 0.000 claims abstract description 43
- 101150065637 Hfe gene Proteins 0.000 claims abstract description 30
- 239000013615 primer Substances 0.000 claims description 69
- 239000002773 nucleotide Substances 0.000 claims description 58
- 125000003729 nucleotide group Chemical group 0.000 claims description 58
- 108700028369 Alleles Proteins 0.000 claims description 55
- 239000012634 fragment Substances 0.000 claims description 33
- 108020004414 DNA Proteins 0.000 claims description 31
- 230000003321 amplification Effects 0.000 claims description 30
- 238000003199 nucleic acid amplification method Methods 0.000 claims description 30
- 238000003556 assay Methods 0.000 claims description 29
- 239000000047 product Substances 0.000 claims description 27
- 208000018565 Hemochromatosis Diseases 0.000 claims description 24
- 230000000692 anti-sense effect Effects 0.000 claims description 22
- 238000003752 polymerase chain reaction Methods 0.000 claims description 22
- 101100462495 Caenorhabditis elegans rsa-1 gene Proteins 0.000 claims description 21
- 108091008146 restriction endonucleases Proteins 0.000 claims description 18
- 238000001514 detection method Methods 0.000 claims description 15
- 230000029087 digestion Effects 0.000 claims description 11
- 108090000623 proteins and genes Proteins 0.000 claims description 10
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 9
- 230000000295 complement effect Effects 0.000 claims description 7
- 239000003155 DNA primer Substances 0.000 claims description 6
- 210000004369 blood Anatomy 0.000 claims description 6
- 239000008280 blood Substances 0.000 claims description 6
- 239000000203 mixture Substances 0.000 claims description 6
- 108091033319 polynucleotide Proteins 0.000 claims description 6
- 102000040430 polynucleotide Human genes 0.000 claims description 6
- 239000002157 polynucleotide Substances 0.000 claims description 6
- 206010064571 Gene mutation Diseases 0.000 claims description 5
- 239000007795 chemical reaction product Substances 0.000 claims description 4
- 108020001019 DNA Primers Proteins 0.000 claims description 3
- 101100394766 Homo sapiens HFE gene Proteins 0.000 claims description 3
- 108091034117 Oligonucleotide Proteins 0.000 claims description 3
- 230000004544 DNA amplification Effects 0.000 claims description 2
- 238000003776 cleavage reaction Methods 0.000 claims description 2
- 238000001502 gel electrophoresis Methods 0.000 claims description 2
- 230000007017 scission Effects 0.000 claims description 2
- 238000002405 diagnostic procedure Methods 0.000 abstract description 4
- 108020004707 nucleic acids Proteins 0.000 description 8
- 102000039446 nucleic acids Human genes 0.000 description 8
- 150000007523 nucleic acids Chemical class 0.000 description 8
- 239000000523 sample Substances 0.000 description 8
- 238000012408 PCR amplification Methods 0.000 description 6
- 238000001976 enzyme digestion Methods 0.000 description 6
- 238000012360 testing method Methods 0.000 description 6
- 238000012300 Sequence Analysis Methods 0.000 description 4
- 238000006243 chemical reaction Methods 0.000 description 4
- 201000010099 disease Diseases 0.000 description 4
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 4
- 238000012216 screening Methods 0.000 description 4
- 238000001712 DNA sequencing Methods 0.000 description 3
- 210000005259 peripheral blood Anatomy 0.000 description 3
- 239000011886 peripheral blood Substances 0.000 description 3
- 230000002747 voluntary effect Effects 0.000 description 3
- XEEYBQQBJWHFJM-UHFFFAOYSA-N Iron Chemical compound [Fe] XEEYBQQBJWHFJM-UHFFFAOYSA-N 0.000 description 2
- 102000004338 Transferrin Human genes 0.000 description 2
- 108090000901 Transferrin Proteins 0.000 description 2
- 238000000137 annealing Methods 0.000 description 2
- 238000013461 design Methods 0.000 description 2
- 238000011161 development Methods 0.000 description 2
- 239000000499 gel Substances 0.000 description 2
- 210000000056 organ Anatomy 0.000 description 2
- 238000012163 sequencing technique Methods 0.000 description 2
- 208000024891 symptom Diseases 0.000 description 2
- 239000012581 transferrin Substances 0.000 description 2
- 238000011144 upstream manufacturing Methods 0.000 description 2
- 108020004491 Antisense DNA Proteins 0.000 description 1
- 102000053602 DNA Human genes 0.000 description 1
- 102000008857 Ferritin Human genes 0.000 description 1
- 108050000784 Ferritin Proteins 0.000 description 1
- 238000008416 Ferritin Methods 0.000 description 1
- 101000766307 Gallus gallus Ovotransferrin Proteins 0.000 description 1
- 101000590492 Homo sapiens Nuclear fragile X mental retardation-interacting protein 1 Proteins 0.000 description 1
- 208000016286 Iron metabolism disease Diseases 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
- 238000007476 Maximum Likelihood Methods 0.000 description 1
- 102100032428 Nuclear fragile X mental retardation-interacting protein 1 Human genes 0.000 description 1
- 239000013614 RNA sample Substances 0.000 description 1
- 108091081024 Start codon Proteins 0.000 description 1
- 108010006785 Taq Polymerase Proteins 0.000 description 1
- 239000011543 agarose gel Substances 0.000 description 1
- 238000004458 analytical method Methods 0.000 description 1
- 239000003816 antisense DNA Substances 0.000 description 1
- 230000015572 biosynthetic process Effects 0.000 description 1
- 239000006227 byproduct Substances 0.000 description 1
- 239000003795 chemical substances by application Substances 0.000 description 1
- 208000019425 cirrhosis of liver Diseases 0.000 description 1
- 239000002299 complementary DNA Substances 0.000 description 1
- 238000007796 conventional method Methods 0.000 description 1
- XUJNEKJLAYXESH-UHFFFAOYSA-N cysteine Natural products SCC(N)C(O)=O XUJNEKJLAYXESH-UHFFFAOYSA-N 0.000 description 1
- 235000018417 cysteine Nutrition 0.000 description 1
- 230000006378 damage Effects 0.000 description 1
- 206010012601 diabetes mellitus Diseases 0.000 description 1
- 238000001952 enzyme assay Methods 0.000 description 1
- 238000002474 experimental method Methods 0.000 description 1
- 230000002068 genetic effect Effects 0.000 description 1
- 230000036541 health Effects 0.000 description 1
- 229910052742 iron Inorganic materials 0.000 description 1
- 238000004519 manufacturing process Methods 0.000 description 1
- 229930182817 methionine Natural products 0.000 description 1
- 230000008816 organ damage Effects 0.000 description 1
- 235000018102 proteins Nutrition 0.000 description 1
- 102000004169 proteins and genes Human genes 0.000 description 1
- 230000005180 public health Effects 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 238000010839 reverse transcription Methods 0.000 description 1
- 102200071191 rs1799945 Human genes 0.000 description 1
- 210000002966 serum Anatomy 0.000 description 1
- 238000006467 substitution reaction Methods 0.000 description 1
- 238000003786 synthesis reaction Methods 0.000 description 1
- 235000013616 tea Nutrition 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
- 125000001493 tyrosinyl group Chemical class [H]OC1=C([H])C([H])=C(C([H])=C1[H])C([H])([H])C([H])(N([H])[H])C(*)=O 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
- C12Q1/6876—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)
- Life Sciences & Earth Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Engineering & Computer Science (AREA)
- Pathology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CA 2272410 CA2272410A1 (fr) | 1999-05-21 | 1999-05-21 | Methode de diagnostic de l'hemochromatose hereditaire |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CA 2272410 CA2272410A1 (fr) | 1999-05-21 | 1999-05-21 | Methode de diagnostic de l'hemochromatose hereditaire |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA2272410A1 true CA2272410A1 (fr) | 2000-11-21 |
Family
ID=29589026
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA 2272410 Abandoned CA2272410A1 (fr) | 1999-05-21 | 1999-05-21 | Methode de diagnostic de l'hemochromatose hereditaire |
Country Status (1)
| Country | Link |
|---|---|
| CA (1) | CA2272410A1 (fr) |
-
1999
- 1999-05-21 CA CA 2272410 patent/CA2272410A1/fr not_active Abandoned
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| FZDE | Dead |