公开(公告)号：GB2485850A

公开(公告)日：2012-05-30

申请号：GB201100787

申请日：2010-11-25

Applicant: BIO RAD LABORATORIES

Inventor： HINDSON BENJAMIN JOSEPH ,  SAXONOV SERGE ,  BELGRADER PHILIP ,  NESS KEVIN DEAN ,  LUCERO MICHAEL ,  COLSTON JR BILLY WAYNE

IPC: C12Q1/68

Abstract: Methods to determine nucleic acid copy numbers within a genetic material, such as chromosome number for the detection of foetal genetic or chromosomal diseases such as trisomy or tetraploidy in Downâ s syndrome, trisomy 8, Kleinfelterâ s syndrome, Patau syndrome, Edwards syndrome or XXX syndrome are disclosed wherein a first ligation probe (half-probe) specific for a first target sequence is hybridised to a target nucleic acid, a second ligation probe (half-probe) specific for a second target sequence is hybridised to an adjacent nucleic acid sequence and the two half-probes are joined by ligation prior to partitioning, preferably in an water-in-oil emulsion and subjected to quantitative amplification, preferably by a quantitative PCR approach. A microcapsule comprising a solid-phase exterior and an aqueous phase containing a ligated probe and a water-in-oil mixture comprising a ligation probes are also disclosed.

公开(公告)号：GB2485850B

公开(公告)日：2014-01-29

申请号：GB201100787

申请日：2010-11-25

Applicant: BIO RAD LABORATORIES

Inventor： HINDSON BENJAMIN JOSEPH ,  SAXONOV SERGE ,  BELGRADER PHILIP ,  NESS KEVIN DEAN ,  LUCERO MICHAEL ,  COLSTON BILLY WAYNE JR

IPC: C12Q1/68

公开(公告)号：WO2012112970A3

公开(公告)日：2013-11-14

申请号：PCT/US2012025760

申请日：2012-02-18

Applicant: BIO RAD LABORATORIES ,  HINDSON BENJAMIN ,  SAXONOV SERGE ,  BELGRADER PHILIP ,  NESS KEVIN ,  LUCERO MICHAEL ,  COLSTON BILLY ,  HODGES SHAWN PAUL ,  HEREDIA NICHOLAS J ,  MELLEN JEFFREY CLARK ,  TROUP CAMILLE BODLEY ,  WYATT PAUL

Inventor： HINDSON BENJAMIN ,  SAXONOV SERGE ,  BELGRADER PHILIP ,  NESS KEVIN ,  LUCERO MICHAEL ,  COLSTON BILLY ,  HODGES SHAWN PAUL ,  HEREDIA NICHOLAS J ,  MELLEN JEFFREY CLARK ,  TROUP CAMILLE BODLEY ,  WYATT PAUL

IPC: C12Q1/68 ,  C12P19/34

CPC classification number: C12Q1/6883 ,  C12Q2521/331 ,  C12Q2523/125 ,  C12Q2600/154

Abstract: Methods and compositions for detecting and quantifying polynucleotide in a sample. Specifically, methylated DNA is quantified to determine the load ofpolynucleotides in a sample. Non-invasive methods for determining the load of fetal polynucleotides in maternal plasma. Methods and compositions for detecting cellular processes such as cellular viability, growth rates, and infection rates. Methods for detecting differences in copy number of a target polynucleotide, specifically, for diagnosis of fetal genetic abnormalities, when the starting sample is maternal blood, serum, or plasma.

Abstract translation: 用于检测和定量样品中多核苷酸的方法和组合物。 具体地，定量甲基化的DNA以确定样品中多核苷酸的负载。 用于确定母体血浆中胎儿多核苷酸负荷的非侵入性方法。 用于检测细胞过程如细胞活力，生长速率和感染率的方法和组合物。 用于检测目标多核苷酸的拷贝数差异的方法，特别是用于诊断胎儿遗传异常时，起始样品是母体血液，血清或血浆时的差异。

公开(公告)号：EP2675923A4

公开(公告)日：2015-07-01

申请号：EP12747706

申请日：2012-02-18

Applicant: BIO RAD LABORATORIES

Inventor： HINDSON BENJAMIN ,  SAXONOV SERGE ,  BELGRADER PHILIP ,  NESS KEVIN ,  LUCERO MICHAEL ,  COLSTON BILLY ,  HODGES SHAWN PAUL ,  HEREDIA NICHOLAS J ,  MELLEN JEFFREY CLARK ,  TROUP CAMILLE BODLEY ,  WYATT PAUL

IPC: C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2521/331 ,  C12Q2523/125 ,  C12Q2600/154

Abstract: The present disclosure provides methods and compositions for detecting polynucleotides in a sample and for quantifying polynucleotide load in a sample. The polynucleotides can be associated with a disease, disorder, or condition. In some applications, methylated DNA is quantified, e.g., in order to determine the load of polynucleotides in a sample. The present disclosure also provides methods and compositions for determining the load of fetal polynucleotides in a biological sample, e.g., the load of fetal polynucleotides (e.g., DNA, RNA) in maternal plasma. The present disclosure provides methods and compositions for detecting cellular processes such as cellular viability, growth rates, and infection rates. This disclosure also provides compositions and methods for detecting differences in copy number of a target polynucleotide. In some embodiments, the methods and compositions provided herein are useful for diagnosis of fetal genetic abnormalities, when the starting sample is maternal tissue (e.g., blood, plasma).

公开(公告)号：EP2504448A4

公开(公告)日：2013-06-05

申请号：EP10833991

申请日：2010-11-25

Applicant: BIO RAD LABORATORIES

Inventor： HINDSON BENJAMIN ,  SAXONOV SERGE ,  BELGRADER PHILIP ,  NESS KEVIN ,  LUCERO MICHAEL ,  COLSTON BILLY

IPC: C12P19/34

CPC classification number: C12Q1/6806 ,  C12Q1/6827 ,  C12Q2537/157 ,  C12Q2563/161 ,  C12Q2533/107 ,  C12Q2521/319