公开(公告)号：WO2017156290A9

公开(公告)日：2017-09-14

申请号：PCT/US2017/021603

申请日：2017-03-09

Applicant: BAYLOR COLLEGE OF MEDICINE

Inventor： ZHANG, Jinglan ,  WONG, Lee-jun, C. ,  FENG, Yanming ,  GE, Xiaoyan

IPC: C07H21/04 ,  C12N15/09 ,  C12N15/12 ,  C12Q1/68

Abstract: The disclosure concerns methods and compositions for obtaining reliable copy numbers of highly homologous gene(s) using next generation sequencing. The methods determine whether or not an individual is a carrier of an autosomal recessive gene mutation using a determination of copy number of two genes, in specific embodiments. In at least some cases, an individual is identified whether or not he or she is a carrier or affected for a genetic defect in SMN1, wherein the defect is associated with spinal muscular atrophy.

公开(公告)号：WO2018049049A1

公开(公告)日：2018-03-15

申请号：PCT/US2017/050510

申请日：2017-09-07

Applicant: BAYLOR COLLEGE OF MEDICINE ,  BAYLOR GENETICS

Inventor： WONG, Lee-Jun, C. ,  ZHANG, Jinglan ,  LI, Jianli ,  FENG, Yanming ,  BEAUDET, Arthur, L. ,  DAI, Hongzheng ,  GE, Xiaoyan ,  MEI, Hui ,  WANG, Guoli

IPC: C12Q1/68 ,  C40B50/06 ,  C40B40/08 ,  C12N15/10

Abstract: Embodiments of the disclosure include methods of prenatal testing using non-invasive means that identify single gene disorders. In specific embodiments the methods are non-invasive and employ tagging circulating cell-free fetal DNA from the biological mother with particular adaptors that employ unique barcodes, followed by steps to enrich targets and steps for thorough sequencing.

Abstract translation: 本公开的实施方案包括使用识别单基因疾病的非侵入性手段进行产前检测的方法。 在具体的实施方案中，所述方法是非侵入性的并且使用来自生物母亲的具有特定衔接子的循环无细胞胎儿DNA标记，所述特定衔接子使用独特的条形码，接着是富集目标和步骤以进行彻底测序的步骤。

公开(公告)号：WO2017156290A1

公开(公告)日：2017-09-14

申请号：PCT/US2017/021603

申请日：2017-03-09

Applicant: BAYLOR COLLEGE OF MEDICINE

Inventor： ZHANG, Jinglan ,  WONG, Lee-jun, C. ,  FENG, Yanming ,  GE, Xiaoyan

IPC: C07H21/04 ,  C12N15/09 ,  C12N15/12 ,  C12Q1/68

CPC classification number: G16H50/20 ,  C12Q1/6869 ,  C12Q1/6883 ,  C12Q2600/156 ,  G16B30/00 ,  G16B50/00 ,  C12Q2535/122 ,  C12Q2537/165

Abstract: The disclosure concerns methods and compositions for obtaining reliable copy numbers of highly homologous gene(s) using next generation sequencing. The methods determine whether or not an individual is a carrier of an autosomal recessive gene mutation using a determination of copy number of two genes, in specific embodiments. In at least some cases, an individual is identified whether or not he or she is a carrier or affected for a genetic defect in SMN1, wherein the defect is associated with spinal muscular atrophy.

Abstract translation: 本公开涉及使用下一代测序获得高度同源基因的可靠拷贝数的方法和组合物。 在具体实施方式中，所述方法使用确定两个基因的拷贝数来确定个体是否是常染色体隐性基因突变的载体。 至少在某些情况下，确定个体是否是携带者或是否患有SMN1遗传缺陷，其中该缺陷与脊髓性肌萎缩有关。