METHOD OF DETECTING GENOMIC ABERRATIONS FOR PRENATAL DIAGNOSIS
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    发明申请
    METHOD OF DETECTING GENOMIC ABERRATIONS FOR PRENATAL DIAGNOSIS 审中-公开
    检测基因治疗对于临床诊断的方法

    公开(公告)号:US20100015619A1

    公开(公告)日:2010-01-21

    申请号:US12445516

    申请日:2007-09-21

    IPC分类号: C12Q1/68

    CPC分类号: C12Q1/6883 C12Q2600/16

    摘要: This invention relates to assays used to detect and confirm genomic aberrations, such as chromosomes 13, 18, 21, X and Y aneuploidy as well as 22q11.2 deletions, for prenatal diagnosis. For the detection, combined STR markers (all tetra-nucleotide repeats) are employed to cover different chromosome regions. For the confirmation step, individual chromosome specific STR markers (tetra-nucleotide repeats) are utilized. This invention particularly relates to multiplex analysis for the presence or absence of STR markers in genomic DNA isolated from peripheral blood, amniotic fluid, cultured amniocytes, chorionic villi, or fetal cells existing in maternal blood. This invention offers an efficient approach to identify chromosomal abnormalities by using STR markers.

    摘要翻译: 本发明涉及用于检测和确认基因组畸变的测定法,例如染色体13,18,21,X和Y非整倍性以及22q11.2缺失,用于产前诊断。 为了检测,使用组合的STR标记(全部四核苷酸重复)来覆盖不同的染色体区域。 对于确认步骤,使用个体染色体特异性STR标记(四核苷酸重复)。 本发明特别涉及从外周血,羊水,培养的羊膜细胞,绒毛膜绒毛或存在于母体血液中的胎儿细胞分离的基因组DNA中存在或不存在STR标记的多重分析。 本发明提供了通过使用STR标记鉴定染色体异常的有效方法。