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BRCA1 and BRCA2 germline mutations useful for predicting genetic predisposition of breast cancer or ovarian cancer

机译:BRCA1和BRCA2种系突变可用于预测乳腺癌或卵巢癌的遗传易感性

摘要

PURPOSE: A polynucleotide is provided to inexpensively diagnose a genetic predisposition to breast cancer and ovarian cancer with high efficiency by providing a Korean-specific mutation type which exists on a BRCA1 and BRCA2 nucleotide sequence. CONSTITUTION: A polynucleotide containing BRCA1 gene mutation for diagnosing breast cancer or ovarian cancer is selected from a group consisting of polynucleotides containing 20-100 continuous nucleotide sequences including: substitution at 28th, 824th, 1511th, 2077th, and 2884th bases from G to A; substitution at 1067th and 4459th bases from A to G; duplication of 1511th base, G; duplication of 2157th base, A; duplication of 3982th base, T; deletion of 5548th base, C; deletion of 2296th and 2297th bases, A and G; deletion at 2856th and 2857th bases and 4092th and 4093th bases; substitution at 3213th base from A to C; substitution at 3607th, 3991th, and 4327th, bases from C to T; substitution at 4586th and 4985th bases from T to C; substitution at 5080th base from G to T in a sequence of sequence number 2; substitution at 279th base from G to C in a sequence of sequence number 2; substitution at 200th base from C to T in a sequence of sequence number 3; deletion at 281th base, G in a sequence of sequence number 4; and substitution at 245th base from G to T in a sequence of sequence number 5.
机译:目的:提供一种多核苷酸,以通过提供存在于BRCA1和BRCA2核苷酸序列上的韩国特异性突变类型来廉价地高效诊断乳腺癌和卵巢癌的遗传易感性。构成:用于诊断乳腺癌或卵巢癌的含有BRCA1基因突变的多核苷酸选自包含20-100个连续核苷酸序列的多核苷酸,包括:从G到A的第28、824、1511、2077和2884个碱基的取代;从A到G在第1067和4459个碱基处进行取代;第1511个碱基的重复,G; 2157碱基重复,A;第3982个碱基的重复,T;删除第5548个碱基,C;删除第2296和2297个碱基A和G;在第2856和2857个碱基以及第4092和4093个碱基处删除;从A到C在第3213个碱基处进行取代;从C到T的第3607、3991和4327位取代;从T到C在第4586和4985个碱基处取代;在序列号2的序列中从G到T的第5080个碱基处的取代;在序列号2的序列中从G到C的第279个碱基处的取代;在序列号3的序列中从C到T的200个碱基处进行取代;在序列号4的序列的第281个碱基G处缺失;并在序列号5的序列中从G到T的第245个碱基处进行取代。

著录项

  • 公开/公告号KR101323100B1

    专利类型

  • 公开/公告日2013-10-30

    原文格式PDF

  • 申请/专利权人

    申请/专利号KR20110123664

  • 申请日2011-11-24

  • 分类号C12N15/11;C12Q1/68;

  • 国家 KR

  • 入库时间 2022-08-21 16:24:15

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