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1. 发明申请

WO2017160686A1 NEXT-GENERATION SEQUENCING TO IDENTIFY ABO BLOOD GROUP 审中-公开
标题翻译：下一代序列鉴定ABO血型
公开(公告)号：WO2017160686A1
公开(公告)日：2017-09-21
申请号：PCT/US2017/022033
申请日：2017-03-13
申请人： GEORGETOWN UNIVERSITY
发明人： HURLEY, Carolyn, K. , HOU, Lihua , NG, Jennifer
IPC分类号： G01N33/50 , C12Q1/68 , C07H21/04 , C12N15/11 , C12N15/00
CPC分类号： C12Q1/6881 , C12N9/1048 , C12Q1/6874 , C12Q1/6883 , C12Q1/6886 , C12Q2600/156 , C12Q2600/172
摘要： Provided are methods of phase-defined genotyping of both alleles of the glycosyltransferase (ABO) locus of a human subject. In certain embodiments the methods include a sequencing step using next-generation sequencing. In certain embodiments the methods include a sequencing step using sequencing-by-synthesis. In certain embodiments the methods further include the steps of comparing contiguous composite nucleotide sequences to a library of reference genomic sequences encoding a region comprising exon (6) and exon (7) of the ABO locus, and identifying individual contiguous composite nucleotide sequences as either (i) a sequence encoding a region comprising a known exon (6) and exon (7) of the ABO locus, or (ii) a sequence encoding a region comprising a novel exon (6) and/or exon (7) of the ABO locus. Also provided are kits for phase-defined genotyping of both alleles of the ABO locus of a human subject.
摘要翻译：提供了人受试者的糖基转移酶（ABO）基因座的两个等位基因的阶段定义基因分型的方法。在某些实施方案中，所述方法包括使用下一代测序的测序步骤。在某些实施方案中，所述方法包括使用合成测序的测序步骤。在某些实施方案中，所述方法还包括以下步骤：将连续复合核苷酸序列与编码包含ABO基因座的外显子（6）和外显子（7）的区域的参照基因组序列文库进行比较，并且将单个连续复合核苷酸序列鉴定为 i）编码包含ABO基因座的已知外显子（6）和外显子（7）的区域的序列，或（ii）编码包含ABO的新外显子（6）和/或外显子（7）的区域的序列轨迹。还提供了用于对人类ABO基因座的两个等位基因进行阶段定义基因分型的试剂盒。

2. 发明申请

WO2016054135A1 NEXT-GENERATION SEQUENCING FOR PHASED HLA CLASS I ANTIGEN RECOGNITION DOMAIN EXONS 审中-公开
标题翻译：相似HLA一级抗体识别域的下一步序列
公开(公告)号：WO2016054135A1
公开(公告)日：2016-04-07
申请号：PCT/US2015/053087
申请日：2015-09-30
申请人： GEORGETOWN UNIVERSITY
发明人： HURLEY, Carolyn, K. , NG-MCCLELLAND, Jennifer , HOU, Lihua
IPC分类号： C40B20/00 , C12Q1/68 , G01N33/50
CPC分类号： G01N33/56977 , C12Q2600/172 , C40B20/00
摘要： Provided are methods for the rapid and accurate determination of the phase of nucleotide polymorphisms in the functionally important region of an HLA protein, i.e., which polymorphic nucleotides are encoded by the same allele. This allows the resolution of an HLA assignment to a specific genotype, and thereby more accurate matching for transplantation and more accurate testing of HLA in general for other applications. In accordance with the instant invention, the phase of polymorphic nucleotides in the functionally relevant region of the HLA molecule, the antigen recognition domain exons, is determined in a single next-generation sequence run.
摘要翻译：提供了用于快速和准确地确定HLA蛋白质功能重要区域中核苷酸多态性相位的方法，即多态性核苷酸由相同等位基因编码。这允许将HLA分配解析为特定的基因型，从而更准确地匹配用于HLA的移植和更准确的其他应用的HLA测试。根据本发明，在单个下一代序列运行中确定HLA分子的功能相关区域中的多态核苷酸的相位，即抗原识别结构域外显子。

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