CN103849682A - 用于人类耳聋多基因突变筛查的引物、探针及其使用方法 - Google Patents
用于人类耳聋多基因突变筛查的引物、探针及其使用方法 Download PDFInfo
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Abstract
Description
引物名称 | 序列 | 序列编号 |
GJB2-M1-F1 | 5’-TAGTGATTCCTGTGTTGTGTG-3’ | SEQ ID NO.1 |
GJB2-M1-F2 | 5’-TCTGTCCTAGCTAGTGATTCCT-3’ | SEQ ID NO.2 |
GJB2-M1-R1 | 5’-AGAGGACGGTGAGCCAGA-3’ | SEQ ID NO.3 |
GJB2-M1-R2 | 5’-AAGAGGACGGTGAGCCA-3’ | SEQ ID NO.4 |
GJB2-M1-P1 | FAM-5’-ACGATCCTGGGGGTGT-3’-MGB | SEQ ID NO.38 |
GJB2-M1-P1’ | HEX-5’-CGATCCTGGGGGTGTGA-3’-MGB | SEQ ID NO.39 |
GJB2-M1-P2 | FAM-5’-CGATCCTGGGGGGTGT-3’-MGB | SEQ ID NO.40 |
GJB2-M1-P2’ | HEX-5’-ATCCTGGGGGGTGTGA-3’-MGB | SEQ ID NO.41 |
GJB2-M2\3-F1 | 5’-TATGATCCTCGTTGTGGCT-3’ | SEQ ID NO.5 |
GJB2-M2\3-F2 | 5’-TTCGCATTATGATCCTCGTTGT-3’ | SEQ ID NO.6 |
GJB2-M2\3-R1 | 5’-ACACGAAGATCAGCTGC-3’ | SEQ ID NO.7 |
GJB2-M2\3-R2 | 5’-CATAGCCGGATGTGGGAG-3’ | SEQ ID NO.8 |
GJB2-M2-P1 | FAM-5’-TCTGCAACACCCGCA-3’-MGB | SEQ ID NO.42 |
GJB2-M2-P1’ | HEX-5’-TCTGCAACACCCTGCA-3’-MGB | SEQ ID NO.43 |
GJB2-M3-P1 | FAM-5’-CAGCCAGCTACGATCA-3’-MGB | SEQ ID NO.44 |
GJB2-M3-P1’ | HEX-5’-CCAGGCTGCAAGAACGTGTGCT-3’-TAMRA | SEQ ID NO.45 |
GJB2-M4-F1 | 5’-TGTGCTACGATCACTACTTCC-3’ | SEQ ID NO.9 |
GJB2-M4-F2 | 5’-AAGAACGTGTGCTACGATCA-3’ | SEQ ID NO.10 |
GJB2-M4-R1 | 5’-CCCCCTTGATGAACTTCCTC-3’ | SEQ ID NO.11 |
GJB2-M4-R2 | 5’-CTTCTTCTCATGTCTCCGGT-3’ | SEQ ID NO.12 |
GJB2-M4-P1 | FAM-5’-CGGCTATGGGCCTGCA-3’-MGB | SEQ ID NO.46 |
GJB2-M4-P1’ | HEX-5’-CGGCTATGGGCCCTGCA-3’-MGB | SEQ ID NO.47 |
GJB2-M4-P2 | FAM-5’-ATCCGGCTATGGGCCTG-3’-MGB | SEQ ID NO.48 |
GJB2-M4-P2’ | HEX-5’-ATCCGGCTATGGGCCCTG-3’-MGB | SEQ ID NO.49 |
GJB2-M5-F1 | 5’-TGATCTTCGTGTCCACGC-3’ | SEQ ID NO.13 |
GJB2-M5-F2 | 5’-CTGATCTTCGTGTCCACG-3’ | SEQ ID NO.14 |
GJB2-M5-R1 | 5’-GGAGCCTTCGATGCGG-3’ | SEQ ID NO.15 |
GJB2-M5-R2 | 5’-CTTCGATGCGGACCTTCTG-3’ | SEQ ID NO.16 |
GJB2-M5-P1 | FAM-5’-TGGCCTACCGGAGACGAG-3’-MGB | SEQ ID NO.50 |
GJB2-M5-P1’ | HEX-5’-CCTACCGGAGACATGAG-3’-MGB | SEQ ID NO.51 |
GJB2-M5-P2 | FAM-5’-TGGCCTACCGGAGACGAG-3’-MGB | SEQ ID NO.52 |
GJB2-M5-P2’ | HEX-5’-CCTACCGGAGACATGAGA-3’-MGB | SEQ ID NO.53 |
GJB3-M-F1 | 5’-TCTCTGGCATGGCTTCAATATG-3’ | SEQ ID NO.17 |
GJB3-M-F2 | 5’-CTCTCTGGCATGGCTTCAATATG-3’ | SEQ ID NO.18 |
GJB3-M-R1 | 5’-CACCATGAAGTAGGTGAAGATTTTCTT-3’ | SEQ ID NO.19 |
GJB3-M-R2 | 5’-CCACCATGAAGTAGGTGAAGATTTT-3’ | SEQ ID NO.20 |
GJB3-M-R3 | 5’-CCCACCATGAAGTAGGTGAAGAT-3’ | SEQ ID NO.21 |
GJB3-M-R4 | 5’-GGCGCCCACCATGAAGTA-3’ | SEQ ID NO.22 |
GJB3-M-R5 | 5’-GAGGCGCCCACCATGA-3’ | SEQ ID NO.23 |
GJB3-M1-P1 | FAM-5’-GCCCCCTGCCCCAACA-3’-MGB | SEQ ID NO.54 |
GJB3-M1-P1’ | HEX-5’-GTGGCCCCCTGCCCTAACA-3’-MGB | SEQ ID NO.55 |
GJB3-M2-P1 | FAM-5’-CCCAACATCGTAGAC-3’-MGB | SEQ ID NO.56 |
GJB3-M2-P1’ | HEX-5’-CCCCAACATCGTGGAC-3’-MGB | SEQ ID NO.57 |
GJB3-M2-P2 | FAM-5’-CCCAACATCGTAGACT-3’-MGB | SEQ ID NO.58 |
GJB3-M2-P2’ | HEX-5’-AACATCGTGGACTGCT-3’-MGB | SEQ ID NO.59 |
SLC26A4-M1-F1 | 5’-AAAGTTCAGCATTATTTGGTTGACAA-3’ | SEQ ID NO.24 |
SLC26A4-M1-F2 | 5’-GAAAGTTCAGCATTATTTGGTTGACA-3’ | SEQ ID NO.25 |
SLC26A4-M1-R1 | 5’-AGGTTGGCTCCATATGAAATGG-3’ | SEQ ID NO.26 |
SLC26A4-M1-R2 | 5’-CCAGGTTGGCTCCATATGAAA-3’ | SEQ ID NO.27 |
SLC26A4-M1-R3 | 5’-TTTTTTCCAGGTTGGCTCCATA-3’ | SEQ ID NO.28 |
SLC26A4-M1-R4 | 5’-TTTTTCCAGGTTGGCTCCAT-3’ | SEQ ID NO.29 |
SLC26A4-M1-P1 | FAM-5’-ATCTTTTGTTTTATTTCGGACGA-3’-MGB | SEQ ID NO.60 |
SLC26A4-M1-P2 | FAM-5’-TCTTTTGTTTTATTTCGGACGA-3’-MGB | SEQ ID NO.61 |
SLC26A4-M1-P3 | FAM-5’-CTTTTGTTTTATTTCGGACGAT-3’-MGB | SEQ ID NO.62 |
SLC26A4-M1-P’ | HEX-5’-CATCTTTTGTTTTATTTCAGACG-3’-MGB | SEQ ID NO.63 |
SLC26A4-M2-F1 | 5’-TGACGACAACATTAGAAAGGACACA-3’ | SEQ ID NO.30 |
SLC26A4-M2-F2 | 5’-GGAGCAATGCGGGTTCTTT-3’ | SEQ ID NO.31 |
SLC26A4-M2-F3 | 5’-TGGAGCAATGCGGGTTCT-3’ | SEQ ID NO.32 |
SLC26A4-M2-R1 | 5’-TGAGATTTCACTTGGTTCTGTAGATAGAG-3’ | SEQ ID NO.33 |
SLC26A4-M2-R2 | 5’-TTGACCCTCTTGAGATTTCACTTG-3’ | SEQ ID NO.34 |
SLC26A4-M2-R3 | 5’-CTTGACCCTCTTGAGATTTCACTTG-3’ | SEQ ID NO.35 |
SLC26A4-M2-R4 | 5’-CCTTGACCCTCTTGAGATTTCACTT-3’ | SEQ ID NO.36 |
SLC26A4-M2-R5 | 5’-ATGGAACCTTGACCCTCTTGAGA-3’ | SEQ ID NO.37 |
SLC26A4-M2-P1 | FAM-5’-CGGTCCGTGATGC-3’-MGB | SEQ ID NO.64 |
SLC26A4-M2-P2 | FAM-5’-TTGACGGTCCGTGATG-3’-MGB | SEQ ID NO.65 |
SLC26A4-M2-P3 | FAM-5’-TGACGGTCCGTGATG-3’-MGB | SEQ ID NO.66 |
SLC26A4-M2-P4 | FAM-5’-ACGGTCCGTGATGC-3’-MGB | SEQ ID NO.67 |
SLC26A4-M2-P’ | HEX-5’-TGACGGTCCATGATG-3’-MGB | SEQ ID NO.68 |
突变名称 | 突变 | 外显子/内含子 | 碱基变化 |
GJB2-M1 | 35delG | Exon-2 | 第30-35位碱基G的缺失 |
GJB2-M2 | 167delT | Exon-2 | 第167位碱基T的缺失 |
GJB2-M3 | 176_191del16 | Exon-2 | 第176-191位16个碱基的缺失 |
GJB2-M4 | 235delC | Exon-2 | 第233-235位碱基C的缺失 |
GJB2-M5 | 299_300delAT | Exon-2 | 第299-300位碱基AT的缺失 |
GJB3-M1 | R180X | Exon-2 | 第538碱基由G变成T |
GJB3-M2 | E183K | Exon-2 | 第547碱基由G变成A |
SLC26A4-M1 | — | Intron-7 | IVS7-2A>G |
SLC26A4-M2 | H723R | Exon-19 | 第2168碱基由A变成G |
Claims (14)
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CN111979313A (zh) * | 2020-09-21 | 2020-11-24 | 郑州桑林生物科技有限公司 | 一种基于多重pcr及高通量测序技术检测耳聋基因致病变异的特异性引物、试剂盒及应用 |
Citations (2)
Publication number | Priority date | Publication date | Assignee | Title |
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CN1896284A (zh) * | 2006-06-30 | 2007-01-17 | 博奥生物有限公司 | 一种鉴别等位基因类型的方法 |
CN102864232A (zh) * | 2012-09-26 | 2013-01-09 | 潮州凯普生物化学有限公司 | 耳聋易感基因联合检测试剂盒 |
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Patent Citations (2)
Publication number | Priority date | Publication date | Assignee | Title |
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CN1896284A (zh) * | 2006-06-30 | 2007-01-17 | 博奥生物有限公司 | 一种鉴别等位基因类型的方法 |
CN102864232A (zh) * | 2012-09-26 | 2013-01-09 | 潮州凯普生物化学有限公司 | 耳聋易感基因联合检测试剂盒 |
Cited By (2)
Publication number | Priority date | Publication date | Assignee | Title |
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CN111979313A (zh) * | 2020-09-21 | 2020-11-24 | 郑州桑林生物科技有限公司 | 一种基于多重pcr及高通量测序技术检测耳聋基因致病变异的特异性引物、试剂盒及应用 |
CN111979313B (zh) * | 2020-09-21 | 2023-05-26 | 郑州桑林生物科技有限公司 | 一种基于多重pcr及高通量测序技术检测耳聋基因致病变异的特异性引物、试剂盒及应用 |
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