CN106755395A - Xi型成骨不全致病基因fkbp10的突变位点及其应用 - Google Patents
Xi型成骨不全致病基因fkbp10的突变位点及其应用 Download PDFInfo
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- CN106755395A CN106755395A CN201611168776.XA CN201611168776A CN106755395A CN 106755395 A CN106755395 A CN 106755395A CN 201611168776 A CN201611168776 A CN 201611168776A CN 106755395 A CN106755395 A CN 106755395A
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- fkbp10
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- amplimer
- osteogenesis imperfecta
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- 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
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/158—Expression markers
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Abstract
Description
名称 | 序列 | 长度 |
SEQ ID.2 | CTATGATCGCAACACCTT | 18 |
SEQ ID.3 | GACACACATGCCCATGA | 17 |
SEQ ID.4 | FAM-CCATCGTGGTGGGTGTGGG-BHQ1 | 19 |
SEQ ID.5 | GTGTGGAACAAGGAAGAC | 18 |
SEQ ID.6 | TGCCATTGTAGTGGTAGC | 18 |
SEQ ID.7 | FAM-AAGTCGCCGTCCTGGACCAT-BHQ1 | 20 |
SEQ ID.8 | CTCTGGTTGGCTGATCAA | 18 |
SEQ ID.9 | CAGGAATGGAGGGATGATA | 19 |
SEQ ID.10 | FAM-TCTCCAGGACACATGCCCAG-BHQ1 | 20 |
SEQ ID.11 | GAGGAGCAAG AAGCAGGGC | 19 |
SEQ ID.12 | GAATCAGATG GGGTGACCAG | 19 |
Claims (9)
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Cited By (5)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2019080284A1 (zh) * | 2017-10-27 | 2019-05-02 | 上海交通大学医学院附属第九人民医院 | 一种药物作用靶点的组合物和应用 |
CN111690734A (zh) * | 2020-06-22 | 2020-09-22 | 山东第一医科大学(山东省医学科学院) | 检测人ifitm5基因突变的引物组及其试剂盒 |
CN113549683A (zh) * | 2020-04-26 | 2021-10-26 | 北京大学第一医院 | 一种眼咽远端型肌病生物标记物和检测方法及其用途 |
WO2022134165A1 (zh) * | 2020-12-24 | 2022-06-30 | 黄欢 | 一种骨发育异常疾病的致病基因col1a2突变及其检测试剂 |
CN114717303A (zh) * | 2022-01-21 | 2022-07-08 | 苏州赛福医学检验有限公司 | 基于多重pcr及高通量测序技术检测成骨不全症相关基因的引物组、试剂盒及应用 |
Citations (4)
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WO2008095152A2 (en) * | 2007-02-01 | 2008-08-07 | Veridex, Llc | Methods and materials for identifying the origin of a carcinoma of unknown primary origin |
CN102206710A (zh) * | 2011-04-12 | 2011-10-05 | 复旦大学附属中山医院 | 预测肝癌术后转移与复发的实时pcr微阵列芯片试剂盒 |
CN105229028A (zh) * | 2013-03-20 | 2016-01-06 | 建新公司 | 用于治疗成骨不全的方法 |
CN105586389A (zh) * | 2014-10-21 | 2016-05-18 | 天津华大基因科技有限公司 | 试剂盒及其在检测遗传性骨病基因中的用途 |
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2016
- 2016-12-16 CN CN201611168776.XA patent/CN106755395B/zh active Active
Patent Citations (4)
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WO2008095152A2 (en) * | 2007-02-01 | 2008-08-07 | Veridex, Llc | Methods and materials for identifying the origin of a carcinoma of unknown primary origin |
CN102206710A (zh) * | 2011-04-12 | 2011-10-05 | 复旦大学附属中山医院 | 预测肝癌术后转移与复发的实时pcr微阵列芯片试剂盒 |
CN105229028A (zh) * | 2013-03-20 | 2016-01-06 | 建新公司 | 用于治疗成骨不全的方法 |
CN105586389A (zh) * | 2014-10-21 | 2016-05-18 | 天津华大基因科技有限公司 | 试剂盒及其在检测遗传性骨病基因中的用途 |
Non-Patent Citations (6)
Title |
---|
SCHWARZE U等: "Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen", 《HUM MOL GENET》 * |
SHI X等: "Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family", 《INTRACTABLE RARE DIS RES》 * |
UMAIR M等: "Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families", 《J HUM GENET》 * |
VENTURI G等: "A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect", 《BONE》 * |
XU XJ等: "Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid", 《J HUM GENET》 * |
鲁艳芹等: "成骨不全及其分子机制", 《生物化学与生物物理进展》 * |
Cited By (8)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2019080284A1 (zh) * | 2017-10-27 | 2019-05-02 | 上海交通大学医学院附属第九人民医院 | 一种药物作用靶点的组合物和应用 |
US12006501B2 (en) | 2017-10-27 | 2024-06-11 | Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine | Composition of drug targets and method of using thereof |
CN113549683A (zh) * | 2020-04-26 | 2021-10-26 | 北京大学第一医院 | 一种眼咽远端型肌病生物标记物和检测方法及其用途 |
CN113549683B (zh) * | 2020-04-26 | 2023-10-24 | 北京大学第一医院 | 一种眼咽远端型肌病生物标记物和检测方法及其用途 |
CN111690734A (zh) * | 2020-06-22 | 2020-09-22 | 山东第一医科大学(山东省医学科学院) | 检测人ifitm5基因突变的引物组及其试剂盒 |
WO2022134165A1 (zh) * | 2020-12-24 | 2022-06-30 | 黄欢 | 一种骨发育异常疾病的致病基因col1a2突变及其检测试剂 |
CN114717303A (zh) * | 2022-01-21 | 2022-07-08 | 苏州赛福医学检验有限公司 | 基于多重pcr及高通量测序技术检测成骨不全症相关基因的引物组、试剂盒及应用 |
CN114717303B (zh) * | 2022-01-21 | 2024-04-12 | 苏州赛福医学检验有限公司 | 基于多重pcr及高通量测序技术检测成骨不全症相关基因的引物组、试剂盒及应用 |
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