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    • 2. 发明授权
    • Mismatch repair detection
    • 不匹配修复检测
    • US06709827B2
    • 2004-03-23
    • US10072047
    • 2002-02-08
    • David R. CoxMalek FahamSiamak Baharloo
    • David R. CoxMalek FahamSiamak Baharloo
    • C12Q168
    • C12Q1/6827C12Q1/6897C12Q2600/156
    • Mismatch Repair Detection (MRD), a novel method for DNA-variation detection, utilizes bacteria to detect mismatches by a change in expression of a marker gene. DNA fragments to be screened for variation are cloned into two MRD plasmids, and bacteria are transformed with heteroduplexes of these constructs. Resulting colonies express the marker gene in the absence of a mismatch, and lack expression in the presence of a mismatch. MRD is capable of detecting a single mismatch within 10 kb of DNA. In addition, MRD can analyze many fragments simultaneously, offering a powerful method for high-throughput genotyping and mutation detection.
    • 用于DNA变异检测的新方法的不匹配修复检测(MRD)利用细菌通过标记基因的表达变化来检测错配。 将待筛选的DNA片段克隆到两个MRD质粒中,并用这些构建体的异源双链体转化细菌。 得到的菌落在不存在错配的情况下表达标记基因,并且在存在失配的情况下缺乏表达。 MRD能够检测DNA的10 kb内的单一错配。 此外,MRD可以同时分析许多片段,为高通量基因分型和突变检测提供了强大的方法。
    • 10. 发明授权
    • Cystatin B mutants
    • 半胱氨酸蛋白酶抑制剂B突变体
    • US06432635B1
    • 2002-08-13
    • US08819872
    • 1997-03-18
    • Richard M. MyersDavid R. CoxLen A. PennacchioAnna-Elina LehesjokiAlbert De La Chapelle
    • Richard M. MyersDavid R. CoxLen A. PennacchioAnna-Elina LehesjokiAlbert De La Chapelle
    • C12Q168
    • C07K14/8139Y10S435/81
    • An isolated nucleic acid molecule, wherein the molecule contains: (1) a first sequence consisting of human cystatin B genomic DNA as set forth in FIG. 3 (SEQ ID NO:1); (2) a second sequence, wherein said second sequence is a subsequence of said first sequence, is at least nucleotides in length, and is not present in human cystatin B cDNA; (3) a third sequence in which at least one nucleotide of said first or second sequences is replaced by a different nucleotide; or (4) a fourth sequence complementary to any of said first, second or third sequences; with the proviso that (I) if said molecule is an RNA molecule, U replaces T in said sequence of said molecule, and (ii) said third sequence is at least 95% identical to said first or second sequence.
    • 一种分离的核酸分子,其中所述分子含有:(1)由人半胱氨酸蛋白酶抑制剂B基因组DNA组成的第一序列,如图1所示。 3(SEQ ID NO:1);(2)第二序列,其中所述第二序列是所述第一序列的亚序列,长度至少为核苷酸,并且不存在于人半胱氨酸蛋白酶抑制剂B cDNA中;(3)第三序列 其中所述第一或第二序列的至少一个核苷酸被不同核苷酸替代的序列; 或(4)与所述第一,第二或第三序列中的任一个互补的第四序列;条件是(I)如果所述分子是RNA分子,则U代替所述分子的所述序列中的T,和(ii)所述第三 序列与所述第一或第二序列至少95%相同。