JP2003508074A5 - - Google Patents
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- Publication number
- JP2003508074A5 JP2003508074A5 JP2001521734A JP2001521734A JP2003508074A5 JP 2003508074 A5 JP2003508074 A5 JP 2003508074A5 JP 2001521734 A JP2001521734 A JP 2001521734A JP 2001521734 A JP2001521734 A JP 2001521734A JP 2003508074 A5 JP2003508074 A5 JP 2003508074A5
- Authority
- JP
- Japan
- Prior art keywords
- seq
- nucleotides
- complementary strand
- human
- dna
- 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.)
- Withdrawn
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- 239000002773 nucleotide Substances 0.000 description 315
- 125000003729 nucleotide group Chemical group 0.000 description 315
- 230000000295 complement effect Effects 0.000 description 152
- 238000000034 method Methods 0.000 description 47
- 230000003321 amplification Effects 0.000 description 36
- 238000003199 nucleic acid amplification method Methods 0.000 description 36
- 101000664527 Homo sapiens Spastin Proteins 0.000 description 28
- 108020004414 DNA Proteins 0.000 description 27
- 239000012472 biological sample Substances 0.000 description 24
- 108091028043 Nucleic acid sequence Proteins 0.000 description 21
- 239000000523 sample Substances 0.000 description 20
- 230000035772 mutation Effects 0.000 description 11
- 150000007523 nucleic acids Chemical group 0.000 description 11
- 238000006243 chemical reaction Methods 0.000 description 8
- 238000013518 transcription Methods 0.000 description 8
- 230000035897 transcription Effects 0.000 description 8
- 108020004707 nucleic acids Proteins 0.000 description 7
- 102000039446 nucleic acids Human genes 0.000 description 7
- 102000054765 polymorphisms of proteins Human genes 0.000 description 6
- 239000002299 complementary DNA Substances 0.000 description 5
- 230000001351 cycling effect Effects 0.000 description 4
- 238000006073 displacement reaction Methods 0.000 description 4
- 230000001605 fetal effect Effects 0.000 description 4
- 208000008675 hereditary spastic paraplegia Diseases 0.000 description 4
- 238000007834 ligase chain reaction Methods 0.000 description 4
- 230000001404 mediated effect Effects 0.000 description 4
- 238000003752 polymerase chain reaction Methods 0.000 description 4
- 230000010076 replication Effects 0.000 description 4
- 238000001514 detection method Methods 0.000 description 2
- 230000000694 effects Effects 0.000 description 2
- 238000012163 sequencing technique Methods 0.000 description 2
- 230000004544 DNA amplification Effects 0.000 description 1
- 238000001712 DNA sequencing Methods 0.000 description 1
- 101150055520 SPG4 gene Proteins 0.000 description 1
- 238000003205 genotyping method Methods 0.000 description 1
- 210000005260 human cell Anatomy 0.000 description 1
- 238000009396 hybridization Methods 0.000 description 1
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
FR99/11097 | 1999-09-03 | ||
FR9911097A FR2798138B1 (fr) | 1999-09-03 | 1999-09-03 | Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante |
PCT/FR2000/002433 WO2001018198A1 (fr) | 1999-09-03 | 2000-09-04 | Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante |
Related Child Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2011158305A Division JP5965594B2 (ja) | 1999-09-03 | 2011-07-19 | 最も一般的な形態の常染色体性優性遺伝性痙性対麻痺に応答し得るspg遺伝子のクローニング、発現および同定 |
Publications (2)
Publication Number | Publication Date |
---|---|
JP2003508074A JP2003508074A (ja) | 2003-03-04 |
JP2003508074A5 true JP2003508074A5 (US06544730-20030408-C00012.png) | 2008-02-21 |
Family
ID=9549552
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2001521734A Withdrawn JP2003508074A (ja) | 1999-09-03 | 2000-09-04 | 最も一般的な形態の常染色体性優性遺伝性痙性対麻痺に応答し得るspg遺伝子のクローニング、発現および同定 |
JP2011158305A Expired - Lifetime JP5965594B2 (ja) | 1999-09-03 | 2011-07-19 | 最も一般的な形態の常染色体性優性遺伝性痙性対麻痺に応答し得るspg遺伝子のクローニング、発現および同定 |
Family Applications After (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2011158305A Expired - Lifetime JP5965594B2 (ja) | 1999-09-03 | 2011-07-19 | 最も一般的な形態の常染色体性優性遺伝性痙性対麻痺に応答し得るspg遺伝子のクローニング、発現および同定 |
Country Status (5)
Families Citing this family (5)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US7811762B2 (en) * | 2006-03-30 | 2010-10-12 | Duke University | Identification of a novel gene underlying familial spastic paraplegia |
EP1897891A1 (en) | 2006-09-11 | 2008-03-12 | Institut National De La Sante Et De La Recherche Medicale (Inserm) | Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein |
WO2009127211A1 (en) * | 2008-04-14 | 2009-10-22 | Aarhus Universitet | Methods and kits for determining spinal dysmyelination |
JP6208104B2 (ja) * | 2014-09-16 | 2017-10-04 | 株式会社日立製作所 | 生体認証システム、生体認証処理装置、生体認証方法、生体情報取得端末および情報端末 |
KR101889072B1 (ko) | 2017-09-15 | 2018-08-16 | 한국생명공학연구원 | 디지털 PCR을 이용한 유전성 강직성 대마비(Hereditary spastic paraplegia, HSP) 관련 유전자 SPG4의 거대결손 검증법 |
Family Cites Families (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US6197551B1 (en) * | 1998-01-27 | 2001-03-06 | Millennium Pharmaceuticals, Inc. | Spoil-1 protein and nucleic acid molecules and uses therefor |
JP4271735B2 (ja) * | 1997-04-15 | 2009-06-03 | メルク アンド カンパニー,インコーポレイティド | 新規のldl−レセプター |
EP1060266A4 (en) * | 1998-02-23 | 2004-09-22 | Dana Farber Cancer Inst Inc | METHOD FOR IDENTIFYING REACTIVE SITES FOR GLYCOSYLASE FOR REPAIRING MISSING BASE PAIRS, ACTIVE SUBSTANCES AND USES THEREOF |
-
1999
- 1999-09-03 FR FR9911097A patent/FR2798138B1/fr not_active Expired - Lifetime
-
2000
- 2000-09-04 US US09/830,902 patent/US6924126B1/en not_active Expired - Lifetime
- 2000-09-04 WO PCT/FR2000/002433 patent/WO2001018198A1/fr active Application Filing
- 2000-09-04 JP JP2001521734A patent/JP2003508074A/ja not_active Withdrawn
- 2000-09-04 CA CA2348657A patent/CA2348657C/fr not_active Expired - Lifetime
- 2000-09-04 CA CA2848454A patent/CA2848454C/fr not_active Expired - Lifetime
-
2005
- 2005-06-20 US US11/155,492 patent/US20050266479A1/en not_active Abandoned
-
2011
- 2011-07-19 JP JP2011158305A patent/JP5965594B2/ja not_active Expired - Lifetime
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