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18 条记录 (耗时 0.038 秒)

    Fingerprinting bacterial strains using repetitive DNA sequence amplification
    5.
    发明授权
    Fingerprinting bacterial strains using repetitive DNA sequence amplification 失效
    使用重复DNA序列扩增的指纹细菌菌株

    公开(公告)号：US5691136A

    公开(公告)日：1997-11-25

    申请号：US111077

    申请日：1993-08-24

    申请人： James R. Lupski ,  James Versalovic ,  Thearith Koeuth

    发明人： James R. Lupski ,  James Versalovic ,  Thearith Koeuth

    IPC分类号： C12N1/11 ,  C12Q1/68 ,  C12P19/34

    CPC分类号： C12Q1/6827 ,  C12Q1/6858 ,  C12Q1/6876 ,  C12Q1/689 ,  C12Q2600/16

    摘要： Oligonucleotide primers and methods for identifying strains of bacteria by genomic fingerprinting are described. The methods are applicable to a variety of samples. The testing procedure includes amplifying the bacterial DNA in the sample to be tested by adding a pair of outwardly-directed primers to the sample. The primers are capable of hybridizing to repetitive DNA sequences in the bacterial DNA and extending outwardly from one hybridizable repetitive sequence to another hybridizable repetitive sequence. After amplification the extension products are separated by size and the specific strain of bacteria is determined by measuring the pattern of sized extension products. The procedure to identify strains of bacteria by fingerprinting has a variety of uses including: identifying bacteria in infections, agriculture and horticulture plots, bioremediation, food monitoring, production monitoring and quality assurance and quality control.

    摘要翻译： 描述了寡核苷酸引物和通过基因组指纹识别细菌菌株的方法。 该方法适用于各种样品。 测试方法包括通过向样品中加入一对向外引物来扩增待测样品中的细菌DNA。 引物能够与细菌DNA中的重复DNA序列杂交并从一个可杂交的重复序列向外延伸到另一个可杂交的重复序列。 扩增后，延伸产物按大小分离，细菌的特异菌株通过测量大小的延伸产物的图案来确定。 通过指纹识别细菌菌株的方法有多种用途，包括：鉴定感染，农业和园艺地块中的细菌，生物修复，食品监测，生产监测和质量保证以及质量控制。

    Defects in periaxin associated with myelinopathies
    6.
    发明授权
    Defects in periaxin associated with myelinopathies 有权
    与myelinopathies相关的periaxin缺陷

    公开(公告)号：US07273698B2

    公开(公告)日：2007-09-25

    申请号：US10021955

    申请日：2001-12-13

    申请人： James R. Lupski ,  Cornelius F. Boerkoel, III ,  Hiroshi Takashima

    发明人： James R. Lupski ,  Cornelius F. Boerkoel, III ,  Hiroshi Takashima

    IPC分类号： C12Q1/68 ,  C07H21/02

    CPC分类号： C12Q1/6883 ,  C07K14/47 ,  C12Q2600/156 ,  G01N33/6893 ,  G01N2800/285

    摘要： The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. Unrelated individuals having a myelinopathy from Dejerine-Sottas syndrome have recessive PRX mutations. The PRX locus maps to a region associated with a severe autosomal recessive demyelinating neuropathy and is also syntenic to the Prx location on murine chromosome 7.

    摘要翻译： 本发明涉及与髓鞘病相关的periaxin（PRX）缺陷，包括Charcot-Marie-Tooth综合征和/或Dejerine-Sottas综合征。 不相关的患有Dejerine-Sottas综合征的髓鞘病的个体具有隐性PRX突变。 PRX位点映射到与严重常染色体隐性脱髓鞘神经病相关的区域，并且也与鼠染色体7上的Prx位点相同。

    Molecular diagnosis of autosomal dominant charcot-marie-tooth disease
    10.
    发明授权
    Molecular diagnosis of autosomal dominant charcot-marie-tooth disease 失效
    常染色体显性遗传性牙周病的分子诊断

    公开(公告)号：US5306616A

    公开(公告)日：1994-04-26

    申请号：US711615

    申请日：1991-06-06

    申请人： James R. Lupski ,  Pragna I. Patel ,  Roberto M. de Oca-Luna ,  Odila S. Cardenas

    发明人： James R. Lupski ,  Pragna I. Patel ,  Roberto M. de Oca-Luna ,  Odila S. Cardenas

    IPC分类号： C07K14/47 ,  C12Q1/68 ,  C07H21/04 ,  C12N15/11

    CPC分类号： C07K14/47 ,  C12Q1/683 ,  C12Q1/6858 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： A method for detecting Charcot-Marie-Tooth (CMT) disease by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMT disease. The method employs extracting DNA from a sample to be tested, and performing Southern analyses with probes which detect the CMT duplication or by amplifying the extracted DNA and identifying the presence or absence of a DNA duplication in the amplified extension products. Also disclosed are sequences contained within the duplication used as probes for Southern analysis as well as primer sequences located within the CMT duplicated region for the PCR analysis.

    摘要翻译： 通过测量与CMT疾病相关的基因位点DNA复制的存在或不存在来检测Charcot-Marie-Tooth（CMT）疾病的方法。 该方法采用从待测试样品中提取DNA，并用探测CMT复制的探针进行Southern分析，或通过扩增提取的DNA并鉴定扩增扩增产物中DNA复制的存在或不存在。 还公开了包含在用作Southern分析的探针的复制内的序列以及位于用于PCR分析的CMT重复区域内的引物序列。