CN105755109A - 一种新的苯丙酮尿症基因筛查和诊断体系及试剂盒 - Google Patents
一种新的苯丙酮尿症基因筛查和诊断体系及试剂盒 Download PDFInfo
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- CN105755109A CN105755109A CN201510815319.4A CN201510815319A CN105755109A CN 105755109 A CN105755109 A CN 105755109A CN 201510815319 A CN201510815319 A CN 201510815319A CN 105755109 A CN105755109 A CN 105755109A
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Abstract
Description
PrimerName | Primerconcentration | Primersequence |
PAH-E02-F | 1uL | GCTTGCTTTGTCCATGGAGGTT5 --> |
PAH-E02-R | 1uL | CATGGAAGTTTGCTACGACATTATCC |
PAH-E03-F | 1uL | CTCCTCACCCTCCCCATTCTCT |
PAH-E03-F3 | 1uL | GATCTTGAGGCATGACATTGGTG |
PAH-E03-R3 | 1uL | TCAGAGCAGGCAGGCTACGTT |
PAH-E03-R4 | 1uL | TGCTGTTATTTTATGAAGACAGTGTGG |
PAH-E04-F | 1uL | CCTGGTTCCCAAGAACCATTCA |
PAH-E04-R | 1uL | CCCAGCCCTCGTGTAAATAGGA |
PAH-E05-F | 1uL | GCCCCCATTCAAAGCATTCATA |
PAH-E05-R | 1uL | CCCTCAACAAGCAAGGCAGACT |
PAH-E06-F | 1uL | CAAGTGATGGCAGCTCACAGGT |
PAH-E06-R | 1uL | AACTTTCTGCAGGGCCATTGAC |
PAH-E07-F | 1uL | AAGCCTATGTCCCTGGGCAGTT |
PAH-E07-R | 1uL | CATTGTGCCTGGCAACTGGTAG |
PAH-E08-F | 1uL | TTCCATTCTTTCTGCCCATTCC |
PAH-E08-R | 1uL | GGCAAAGCTGCGATCTGAAAAC |
PAH-E10-F | 1uL | CCACTGACTCACATGCCAATCC |
PAH-E10-R | 1uL | TCCTTGGTTCCTGTGAAGGTCA |
PAH-E11-F | 1uL | GGAATCGGGGTGAGATGAGAGA |
PAH-E11-R | 1uL | CCCAGAGCTAGTGGCTCACCTT |
PAH-E12-F | 1uL | CCCTTCACTCAAGCCTGTGGTT |
PAH-E12-R | 1uL | ATGGCGATGGTAGGGAAAGACA |
PTS-E02-1F | 1uL | AGATAGTAAGCCACTTTGCGGATCA |
PTS-E02-1R | 1uL | CCCCTTGTTCCACAGCAACTG |
PTS-E02-2F | 1uL | TTGGGAAATGCAACAATCCAAA |
PTS-E02-2R2 | 1uL | CAAGGCTCAAAGCATTCACACTG |
PTS-E05-F | 1uL | TGGAACAATTTGGAATTTGAGTCGTA |
PTS-E05-R | 1uL | ATACAGTGCCACCCACCTCACC |
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Cited By (10)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN106544431A (zh) * | 2016-10-28 | 2017-03-29 | 林巍 | 高苯丙氨酸血症相关基因外显子突变的测序文库构建方法 |
CN106841427A (zh) * | 2016-12-30 | 2017-06-13 | 广州市达瑞生物技术股份有限公司 | 一种检测pku和cah的串联质谱试剂盒制备及其应用 |
CN107058541A (zh) * | 2017-04-21 | 2017-08-18 | 上海杰傲奉生医学检验所有限公司 | 苯丙酮尿症相关基因拷贝数变异检测试剂盒 |
CN107723358A (zh) * | 2017-10-26 | 2018-02-23 | 国家卫生计生委科学技术研究所 | 苯丙酮尿症检测试剂盒 |
CN107828883A (zh) * | 2017-12-08 | 2018-03-23 | 东莞博奥木华基因科技有限公司 | 一种苯丙酮尿症的检测引物组、试剂盒及基因突变检测方法 |
CN109554478A (zh) * | 2019-01-17 | 2019-04-02 | 苏州市立医院 | 检测慢性淋巴细胞白血病基因突变的组合物 |
CN110484611A (zh) * | 2019-05-22 | 2019-11-22 | 浙江大学 | 一种高苯丙氨酸血症基因检测试剂盒 |
CN111100908A (zh) * | 2018-10-26 | 2020-05-05 | 厦门大学 | 一种检测核苷酸片段缺失的方法和试剂盒 |
CN111394446A (zh) * | 2019-01-02 | 2020-07-10 | 北京迈基诺基因科技股份有限公司 | 一种用于检测苯丙酮尿症相关致病基因的试剂盒及其专用捕获探针组 |
CN112143788A (zh) * | 2020-09-10 | 2020-12-29 | 长沙金域医学检验实验室有限公司 | 一种鉴定pah基因同时含两个突变位点位置的试剂盒及方法 |
Citations (2)
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CN103436616A (zh) * | 2013-08-23 | 2013-12-11 | 苏州市立医院 | 中国人群苯丙酮尿症pah基因筛查试剂盒 |
CN104031990A (zh) * | 2014-05-19 | 2014-09-10 | 潮州凯普生物化学有限公司 | 苯丙酮尿症pah基因检测试剂盒 |
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CN103436616A (zh) * | 2013-08-23 | 2013-12-11 | 苏州市立医院 | 中国人群苯丙酮尿症pah基因筛查试剂盒 |
CN104031990A (zh) * | 2014-05-19 | 2014-09-10 | 潮州凯普生物化学有限公司 | 苯丙酮尿症pah基因检测试剂盒 |
Non-Patent Citations (1)
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陈瑛等: "目标序列捕获二代测序技术在苯丙酮尿症基因诊断中的应用", 《复旦学报(医学版)》 * |
Cited By (16)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN106544431A (zh) * | 2016-10-28 | 2017-03-29 | 林巍 | 高苯丙氨酸血症相关基因外显子突变的测序文库构建方法 |
CN106841427B (zh) * | 2016-12-30 | 2019-05-14 | 广州市达瑞生物技术股份有限公司 | 一种检测pku和cah的串联质谱试剂盒 |
CN106841427A (zh) * | 2016-12-30 | 2017-06-13 | 广州市达瑞生物技术股份有限公司 | 一种检测pku和cah的串联质谱试剂盒制备及其应用 |
CN107058541A (zh) * | 2017-04-21 | 2017-08-18 | 上海杰傲奉生医学检验所有限公司 | 苯丙酮尿症相关基因拷贝数变异检测试剂盒 |
CN107723358A (zh) * | 2017-10-26 | 2018-02-23 | 国家卫生计生委科学技术研究所 | 苯丙酮尿症检测试剂盒 |
CN107723358B (zh) * | 2017-10-26 | 2021-03-19 | 国家卫生健康委科学技术研究所 | 苯丙酮尿症检测试剂盒 |
CN107828883A (zh) * | 2017-12-08 | 2018-03-23 | 东莞博奥木华基因科技有限公司 | 一种苯丙酮尿症的检测引物组、试剂盒及基因突变检测方法 |
CN111100908A (zh) * | 2018-10-26 | 2020-05-05 | 厦门大学 | 一种检测核苷酸片段缺失的方法和试剂盒 |
CN111100908B (zh) * | 2018-10-26 | 2022-07-12 | 厦门大学 | 一种检测核苷酸片段缺失的方法和试剂盒 |
CN111394446A (zh) * | 2019-01-02 | 2020-07-10 | 北京迈基诺基因科技股份有限公司 | 一种用于检测苯丙酮尿症相关致病基因的试剂盒及其专用捕获探针组 |
CN111394446B (zh) * | 2019-01-02 | 2022-11-01 | 北京迈基诺基因科技股份有限公司 | 一种用于检测苯丙酮尿症相关致病基因的试剂盒及其专用捕获探针组 |
CN109554478A (zh) * | 2019-01-17 | 2019-04-02 | 苏州市立医院 | 检测慢性淋巴细胞白血病基因突变的组合物 |
CN109554478B (zh) * | 2019-01-17 | 2021-11-23 | 苏州市立医院 | 检测慢性淋巴细胞白血病基因突变的组合物 |
CN110484611A (zh) * | 2019-05-22 | 2019-11-22 | 浙江大学 | 一种高苯丙氨酸血症基因检测试剂盒 |
CN110484611B (zh) * | 2019-05-22 | 2020-11-17 | 浙江大学 | 一种高苯丙氨酸血症基因检测试剂盒 |
CN112143788A (zh) * | 2020-09-10 | 2020-12-29 | 长沙金域医学检验实验室有限公司 | 一种鉴定pah基因同时含两个突变位点位置的试剂盒及方法 |
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Inventor after: Wang Ting Inventor after: Li Qiong Inventor after: Li Haibo Inventor after: Liu Deyuan Inventor after: Jiang Zhengwen Inventor after: Wang Benjing Inventor after: Li Hong Inventor after: Dai Jianrong Inventor after: Wang Hongying Inventor after: Jiang Wei Inventor before: Wang Benjing Inventor before: Li Qiong Inventor before: Li Haibo Inventor before: Liu Deyuan Inventor before: Jiang Zhengwen Inventor before: Wang Ting Inventor before: Li Hong Inventor before: Dai Jianrong Inventor before: Wang Hongying Inventor before: Jiang Wei |