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1. 发明申请

US20050266432A1 Haplotype markers for diagnosing susceptibility to immunological conditions 审中-公开
标题翻译：用于诊断免疫条件易感性的单倍型标记
公开(公告)号：US20050266432A1
公开(公告)日：2005-12-01
申请号：US11069908
申请日：2005-02-28
申请人： Arnold Oliphant , Sarah Murray
发明人： Arnold Oliphant , Sarah Murray
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： The invention provides a method of identifying a SNP haplotype that correlates with an HLA type, MHC allele or susceptibility to a particular disease or condition including the steps of (a) providing the identity of the nucleotide for each of a set of single nucleotide polymorphism (SNPs) in the major histocompatability complex (MHC) region in a population of individuals; (b) providing the HLA type, MHC allele, or susceptibility to the particular disease or condition for the individuals; and (c) identifying a SNP haplotype in the population that correlates with the HLA type, MHC allele or susceptibility to the particular disease or condition, wherein the SNP haplotype includes the SNPs in the MHC region. The invention further provides a method for predicting an HLA type, MHC allele or susceptibility to a particular disease or condition of an individual including the steps of (a) providing the identity of a plurality of SNPs in one or more nucleic acids from the individual that correlate with an HLA type, MHC allele or susceptibility to a particular disease or condition; and (b) predicting the HLA type, MHC genotype or susceptibility to a particular disease or condition for the individual based on a SNP haplotype comprising the plurality of SNPs. The invention also provides SNPs and oligonucleotide probes that are useful for identifying haplotypes associated with a particular disease or condition or with the presence of particular protein variants involved in immunological recognition. The SNPs and probes are also useful for predicting HLA-type, HLA genotype or susceptibility to a particular disease or condition.
摘要翻译：本发明提供了鉴定与特定疾病或病症的HLA类型，MHC等位基因或易感性相关的SNP单倍型的方法，包括以下步骤：（a）提供一组单核苷酸多态性中的每一个的核苷酸的身份（ SNPs）在个体人群中的主要组织相容性复合体（MHC）区域; （b）为个体提供HLA类型，MHC等位基因或对特定疾病或病症的易感性; 和（c）识别与HLA类型，MHC等位基因或对特定疾病或病症的易感性相关的群体中的SNP单倍型，其中所述SNP单倍型包括MHC区域中的SNP。本发明还提供了一种用于预测HLA类型，MHC等位基因或对个体的特定疾病或病症的易感性的方法，包括以下步骤：（a）在个体的一个或多个核酸中提供多个SNP的身份，与HLA类型，MHC等位基因或对特定疾病或病症的易感性相关; 和（b）基于包含多个SNP的SNP单元型，预测HLA类型，MHC基因型或对个体的特定疾病或病症的易感性。本发明还提供可用于鉴定与特定疾病或病症相关的单倍型或涉及免疫学识别的特定蛋白质变体的存在的SNP和寡核苷酸探针。 SNP和探针也可用于预测HLA型，HLA基因型或对特定疾病或病症的易感性。

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