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    • 99. 发明授权
    • MEANS AND METHODS FOR NON-INVASIVE DIAGNOSIS OF CHROMOSOMAL ANEUPLOIDY
    • MITTEL UND VERFAHRENFÜRNICHT-INVASIVE DIAGNOSE VON CHROMOSOMALER ANEUPLOIDIE
    • EP2494065B1
    • 2015-12-23
    • EP10768959.8
    • 2010-10-26
    • Lifecodexx AG
    • BENZ, MarcusHOFMANN, WeraPOHL, ThomasVON KALLE, Christoph
    • C12Q1/68
    • G01N33/574C12Q1/6806C12Q1/6851G01N2800/368G01N2800/385G06F19/22C12Q2525/107C12Q2525/121C12Q2537/157C12Q2545/101
    • The invention relates to a prenatal diagnostic method for the determination of a chromosomal aberration in a biological sample obtained from an individual, the method comprising: a) selecting for and isolating from said biological sample of an individual one or more target sequences of DNA molecules contained in the biological sample, wherein said target sequences comprise DNA sequences having consensus nucleosome binding regions; b)amplifying said selected target sequences; c) sequencing said amplified selected target sequences and allotting them to the chromosomes of the genome and identifying the unique allotted target sequences; d) determining a first amount for each of one or more first chromosomes identified on the basis of said unique allotted target sequences originating from said one or more first chromosomes; e) determining a second amount for each of one or more second chromosomes identified on the basis of said unique allotted target sequences originating from said one or more second chromosomes; and f) determining based on the said first and second amount a chromosomal abberation.
    • 本发明涉及一种用于确定从个体获得的生物样品中的染色体畸变的产前诊断方法,所述方法包括:a)从所述生物样品中选择和分离一个或多个包含的DNA分子的一个或多个靶序列 在所述生物样品中,其中所述靶序列包含具有共有核小体结合区域的DNA序列; b)扩增所选择的靶序列; c)对所述扩增的选定靶序列进行测序并将其分配给基因组的染色体并鉴定唯一分配的靶序列; d)确定基于源自所述一个或多个第一染色体的所述唯一分配的靶序列鉴定的一个或多个第一染色体中的每一个的第一量; e)确定基于源自所述一个或多个第二染色体的所述唯一分配的靶序列鉴定的一个或多个第二染色体中的每一个的第二量; 以及f)基于所述第一和第二量确定染色体异常。