公开(公告)号：US08367322B2

公开(公告)日：2013-02-05

申请号：US10198235

申请日：2002-07-17

申请人： Francis Barany ,  Jianzhao Kiu ,  Brian W. Kirk ,  Monib Zirvi ,  Norman P. Gerry ,  Philip B. Paty

发明人： Francis Barany ,  Jianzhao Kiu ,  Brian W. Kirk ,  Monib Zirvi ,  Norman P. Gerry ,  Philip B. Paty

IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/02 ,  C07H21/04 ,  C07H21/00

CPC分类号： C12Q1/6874 ,  C12Q1/6827 ,  C12Q1/6855 ,  G06F19/22 ,  C12Q2565/501 ,  C12Q2561/125 ,  C12Q2525/191 ,  C12Q2539/107 ,  C12Q2565/514

摘要： The present invention is directed to a method of assembling genomic maps of an organism's DNA or portions thereof. A library of an organism's DNA is provided where the individual genomic segments or sequences are found on more than one clone in the library. Representations of the genome are created, and nucleic acid sequence information is generated from the representations. The sequence information is analyzed to determine clone overlap from a representation. The clone overlap and sequence information from different representations is combined to assemble a genomic map of the organism. Once the genomic map is obtained, genomic sequence information from multiple individuals can be applied to the map and compared with one another to identify single nucleotide polymorphisms. These single nucleotide polymorphisms can be detected, and alleles quantified, by conducting (1) a global PCR amplification which creates a genome representation, and (2) a ligation detection reaction process whose ligation products are captured by hybridization to a support.

公开(公告)号：US06534293B1

公开(公告)日：2003-03-18

申请号：US09478189

申请日：2000-01-05

申请人： Francis Barany ,  Jianzhao Liu ,  Brian W. Kirk ,  Monib Zirvi ,  Norman P. Gerry ,  Philip B. Paty

发明人： Francis Barany ,  Jianzhao Liu ,  Brian W. Kirk ,  Monib Zirvi ,  Norman P. Gerry ,  Philip B. Paty

IPC分类号： C12P1934

CPC分类号： C12Q1/6827 ,  C12Q1/6837 ,  C12Q1/6841 ,  C12Q1/6855 ,  C12Q1/6874 ,  Y10T436/143333 ,  C12Q2525/155 ,  C12Q2521/301 ,  C12Q2539/107 ,  C12Q2535/113 ,  C12Q2525/191 ,  C12Q2565/501 ,  C12Q2561/125 ,  C12Q2565/514

摘要： The present invention is directed to a method of assembling genomic maps of an organism's DNA or portions thereof. A library of an organism's DNA is provided where the individual genomic segments or sequences are found on more than one clone in the library. Representations of the genome are created, and nucleic acid sequence information is generated from the representations. The sequence information is analyzed to determine clone overlap from a representation. The clone overlap and sequence information from different representations is combined to assemble a genomic map of the organism. Once the genomic map is obtained, genomic sequence information from multiple individuals can be applied to the map and compared with one another to identify single nucleotide polymorphisms. These single nucleotide polymorphisms can be detected, and alleles quantified, by conducting (1) a global PCR amplification which creates a genome representation, and (2) a ligation detection reaction process whose ligation products are captured by hybridization to a support.

摘要翻译： 本发明涉及一种组装生物体DNA或其部分的基因组图谱的方法。 提供了生物体DNA的文库，其中在文库中的多于一个克隆上发现各个基因组片段或序列。 创建基因组的表示，并从表示生成核酸序列信息。 分析序列信息以从表示确定克隆重叠。 来自不同表示的克隆重叠和序列信息被组合以组装生物体的基因组图。 一旦得到基因组图谱，可以将多个个体的基因组序列信息应用于该图并相互比较以鉴定单核苷酸多态性。 通过进行（1）产生基因组表达的全局PCR扩增，以及（2）通过与载体杂交捕获其连接产物的连接检测反应过程，可以检测这些单核苷酸多态性和等位基因进行定量。