KR100926899B1 - 선천성 부신피질 과형성증 진단키트 - Google Patents
선천성 부신피질 과형성증 진단키트 Download PDFInfo
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- KR100926899B1 KR100926899B1 KR1020070056018A KR20070056018A KR100926899B1 KR 100926899 B1 KR100926899 B1 KR 100926899B1 KR 1020070056018 A KR1020070056018 A KR 1020070056018A KR 20070056018 A KR20070056018 A KR 20070056018A KR 100926899 B1 KR100926899 B1 KR 100926899B1
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Abstract
Description
점 돌연변이 | 정상 유전형 | 변이 유전형 |
P30L | C | T |
I2G | a or c | G |
8bp del | G | T |
I172N | T | A |
I235N | T | A |
V236E | T | A |
M238K | T | A |
V281L | G | T |
F306T | G | T |
Q318X | C | T |
R356Q | C | T |
Claims (2)
- (i) 서열번호 1 내지 28의 염기서열을 갖는, 대립유전자 특이 프라이머 연장(allele specific primer extension, ASPE)을 위한 프라이머;(ii) 서열번호 41 및 42의 염기서열을 갖는, CYP21 유전자 1차 증폭용 프라이머;(iii) 서열번호 29 내지 36, 39 및 40의 염기서열을 갖는, CYP21 유전자 2차 증폭용 프라이머;(iv) 서열번호 42 내지 44의 염기서열을 갖는, CYP21 유전자의 결손 확인용 프라이머;(v) 서열번호 45 내지 72의 염기서열을 갖는 안티-태그 염기서열이 표지된 플렉스 맵 비드(FlexMap Bead);(vi) 바이오틴이 표지된 dNTP; 및,(vii) 바이오틴을 검출할 수 있는 형광물질이 표지된 스트렙타비딘을 포함하는, 선천성 부신피질 과형성증(congenital adrenal hyperplasia, CAH) 진단키트.
- 제 1항에 있어서,형광물질은 플루오레신(fluorescein), 이소티오시아네이트(isothiocyanate), 로다민(rhodamine), 피코에리트린(phycoerythrin), 피코시아닌(phycocyanin), 알로 피코시아닌(allophycocyanin), o-프탈데히드(o-phthaldehyde) 및 플루오레스카민(fluorescamin)으로 구성된 그룹으로부터 선택되는 것을 특징으로 하는선천성 부신피질 과형성증 진단키트.
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KR1020070056018A KR100926899B1 (ko) | 2007-06-08 | 2007-06-08 | 선천성 부신피질 과형성증 진단키트 |
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KR1020070056018A KR100926899B1 (ko) | 2007-06-08 | 2007-06-08 | 선천성 부신피질 과형성증 진단키트 |
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KR20080107784A KR20080107784A (ko) | 2008-12-11 |
KR100926899B1 true KR100926899B1 (ko) | 2009-11-17 |
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Families Citing this family (2)
Publication number | Priority date | Publication date | Assignee | Title |
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CN113564247B (zh) * | 2021-09-24 | 2022-01-28 | 北京贝瑞和康生物技术有限公司 | 同时检测先天性肾上腺皮质增生症相关9个基因多种突变的引物组和试剂盒 |
CN117385025B (zh) * | 2023-12-11 | 2024-03-08 | 赛雷纳(中国)医疗科技有限公司 | 用于检测cyp21a2基因的试剂盒 |
Citations (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US5807678A (en) | 1995-03-23 | 1998-09-15 | Regents Of The University Of California | Identification of gene mutations associated with congenital lipoid adrenal hyperplasia |
KR20010020752A (ko) * | 1999-04-17 | 2001-03-15 | 박영구 | 선천성 부신성기 증후군의 진단 방법 및 진단 키트 |
US20060029930A1 (en) | 2004-08-09 | 2006-02-09 | Quest Diagnostics Investments Incorporated | Detecting genotypes associated with congenital adrenal hyperplasia |
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- 2007-06-08 KR KR1020070056018A patent/KR100926899B1/ko active IP Right Grant
Patent Citations (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US5807678A (en) | 1995-03-23 | 1998-09-15 | Regents Of The University Of California | Identification of gene mutations associated with congenital lipoid adrenal hyperplasia |
KR20010020752A (ko) * | 1999-04-17 | 2001-03-15 | 박영구 | 선천성 부신성기 증후군의 진단 방법 및 진단 키트 |
US20060029930A1 (en) | 2004-08-09 | 2006-02-09 | Quest Diagnostics Investments Incorporated | Detecting genotypes associated with congenital adrenal hyperplasia |
Non-Patent Citations (1)
Title |
---|
논문1:Genomics. |
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