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公开(公告)号：US07361468B2
公开(公告)日：2008-04-22
申请号：US11175859
申请日：2005-07-05
申请人： Guoying Liu , Simon Cawley , Hajime Matsuzaki , Earl A. Hubbell , Geoffrey Yang , Teresa A. Webster , Rui Mei , Xiaojun Di , Richard Chiles
发明人： Guoying Liu , Simon Cawley , Hajime Matsuzaki , Earl A. Hubbell , Geoffrey Yang , Teresa A. Webster , Rui Mei , Xiaojun Di , Richard Chiles
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： Methods, kits and arrays of nucleic acid probes for genotyping large numbers of human SNPs in parallel are provided. A set of more than 100,000 human SNPs, known to be biallelic in at least two populations is provided. Allele specific perfect match probes and genotyping probe sets are provided for each allele of each biallelic SNP in a set of human SNPs that is useful for genetic analysis within and across populations. Probe sets that include perfect match and mismatch probes are provided. The probe sets are suitable for inclusion in an array. The invention provides the SNP and surrounding sequence and provides the sequences in such a way as to make them available for a variety of analyses including genotyping. As such, the invention relates to diverse fields impacted by the nature of genetics, including biology, medicine, and medical diagnostics.
摘要翻译： 提供了用于并行分析大量人类SNP的核酸探针的方法，试剂盒和阵列。 提供了一组超过100,000个人类SNP，已知在至少两个人群中是双向的。 为一组人类SNP中的每个双重性SNP的每个等位基因提供等位基因特异性完全匹配探针和基因分型探针组，其可用于群体内和跨群体的遗传分析。 提供包括完美匹配和不匹配探针的探针组。 探头组适合包含在阵列中。 本发明提供了SNP和周围序列，并提供了这样的序列，使得它们可用于各种分析，包括基因分型。 因此，本发明涉及受遗传学性质影响的不同领域，包括生物学，医学和医学诊断。
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公开(公告)号：US20060024715A1
公开(公告)日：2006-02-02
申请号：US11175859
申请日：2005-07-05
申请人： Guoying Liu , Simon Cawley , Hajime Matsuzaki , Earl Hubbell , Geoffrey Yang , Teresa Webster , Rui Mei , Xiaojun Di , Richard Chiles
发明人： Guoying Liu , Simon Cawley , Hajime Matsuzaki , Earl Hubbell , Geoffrey Yang , Teresa Webster , Rui Mei , Xiaojun Di , Richard Chiles
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： Methods, kits and arrays of nucleic acid probes for genotyping large numbers of human SNPs in parallel are provided. A set of more than 100,000 human SNPs, known to be biallelic in at least two populations is provided. Allele specific perfect match probes and genotyping probe sets are provided for each allele of each biallelic SNP in a set of human SNPs that is useful for genetic analysis within and across populations. Probe sets that include perfect match and mismatch probes are provided. The probe sets are suitable for inclusion in an array. The invention provides the SNP and surrounding sequence and provides the sequences in such a way as to make them available for a variety of analyses including genotyping. As such, the invention relates to diverse fields impacted by the nature of genetics, including biology, medicine, and medical diagnostics.
摘要翻译： 提供了用于并行分析大量人类SNP的核酸探针的方法，试剂盒和阵列。 提供了一组超过100,000个人类SNP，已知在至少两个人群中是双向的。 为一组人类SNP中的每个双重性SNP的每个等位基因提供等位基因特异性完全匹配探针和基因分型探针组，其可用于群体内和跨群体的遗传分析。 提供包括完美匹配和不匹配探针的探针组。 探头组适合包含在阵列中。 本发明提供了SNP和周围序列，并提供了这样的序列，使得它们可用于各种分析，包括基因分型。 因此，本发明涉及受遗传学性质影响的不同领域，包括生物学，医学和医学诊断。
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公开(公告)号：US20050153347A1
公开(公告)日：2005-07-14
申请号：US11020528
申请日：2004-12-23
申请人： Michael Shapero , Guoying Liu
发明人： Michael Shapero , Guoying Liu
CPC分类号： C12Q1/6827 , C12Q2565/501 , C12Q2525/191 , C12Q2525/186 , C12Q2523/125 , C12Q2521/313
摘要： The present invention provides for novel methods and kits for determining the methylation status of a cytosine in a nucleic acid sample. The methylation status of a plurality of cytosines may be determined simultaneously. In one embodiment methylation status is determined using methylation specific modification of cytosines followed by locus specific amplification, single base extension at the interrogation position and identification of the extended base by array hybridization. In another embodiment methylation specific modification of a cytosine is detected by hybridization to an array of probes that are perfectly complementary to either the methylated product of modification or the unmethylated product of modification. In another embodiment methylation status is determined using methylation specific restriction enzymes coupled with hybridization to an array.
摘要翻译： 本发明提供用于确定核酸样品中胞嘧啶的甲基化状态的新方法和试剂盒。 多个胞嘧啶的甲基化状态可以同时测定。 在一个实施方案中，使用甲基化特异性修饰胞嘧啶，然后进行基因座特异性扩增，在询问位置的单碱基延伸和通过阵列杂交鉴定扩展的碱基来确定甲基化状态。 在另一个实施方案中，通过与与修饰的甲基化产物或修饰的非甲基化产物完全互补的探针阵列杂交来检测胞嘧啶的甲基化特异性修饰。 在另一个实施方案中，使用与阵列杂交偶联的甲基化特异性限制酶测定甲基化状态。
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公开(公告)号：US20050064476A1
公开(公告)日：2005-03-24
申请号：US10913928
申请日：2004-08-06
申请人： Jing Huang , Michael Shapero , Keith Jones , Guoying Liu
发明人： Jing Huang , Michael Shapero , Keith Jones , Guoying Liu
IPC分类号： C12Q20060101 , C12Q1/00 , C12Q1/68 , G01N33/48 , G01N33/50 , G06F19/18 , G06F19/20 , G06F19/00
CPC分类号： C12Q1/6837 , C12Q1/6827 , G16B20/00 , G16B25/00 , C12Q2545/101
摘要： Methods of identifying changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
摘要翻译： 公开了鉴定基因组DNA拷贝数变化的方法。 公开了鉴定纯合缺失和遗传扩增的方法。 还公开了一种设计用于检测多个不同序列的存在或不存在的探针阵列。 探针被设计为与预测存在于复杂度降低的样品中的序列杂交。 与正常组织相比，该方法可用于检测癌组织中的拷贝数变化。 该方法可用于诊断与染色体异常相关的癌症和其他疾病。
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公开(公告)号：US20050130217A1
公开(公告)日：2005-06-16
申请号：US11044831
申请日：2005-01-26
申请人： Jing Huang , Michael Shapero , Keith Jones , Guoying Liu
发明人： Jing Huang , Michael Shapero , Keith Jones , Guoying Liu
IPC分类号： C12Q20060101 , C12Q1/00 , C12Q1/68 , G01N33/48 , G01N33/50 , G06F19/18 , G06F19/20 , G06F19/00
CPC分类号： C12Q1/6837 , C12Q1/6827 , G16B20/00 , G16B25/00 , C12Q2545/101
摘要： Methods of identifying changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
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公开(公告)号：US20050009059A1
公开(公告)日：2005-01-13
申请号：US10841027
申请日：2004-05-07
申请人： Michael Shapero , Guoying Liu
发明人： Michael Shapero , Guoying Liu
CPC分类号： C12Q1/6827 , C12Q2565/501 , C12Q2525/191 , C12Q2525/186 , C12Q2523/125 , C12Q2521/313
摘要： The present invention provides for novel methods and kits for determining the methylation status of a cytosine in a nucleic acid sample. The methylation status of a plurality of cytosines may be determined simultaneously. In one embodiment methylation status is determined using methylation specific modification of cytosines followed by locus specific amplification, single base extension at the interrogation position and identification of the extended base by array hybridization. In another embodiment methylation specific modification of a cytosine is detected by hybridization to an array of probes that are perfectly complementary to either the methylated product of modification or the unmethylated product of modification. In another embodiment methylation status is determined using methylation specific restriction enzymes coupled with hybridization to an array.
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