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    Molecular structure of RHD negative
    92.
    发明授权
    Molecular structure of RHD negative 有权

    公开(公告)号：US09034573B1

    公开(公告)日：2015-05-19

    申请号：US10129580

    申请日：2000-10-31

    申请人： Willy A. Flegel ,  Franz F. Wagner

    发明人： Willy A. Flegel ,  Franz F. Wagner

    IPC分类号： C12Q1/68 ,  C12N15/12 ,  C12N15/52 ,  C07H21/02 ,  C07H21/04

    CPC分类号： C12Q1/6883 ,  C07K14/705 ,  C12N15/52 ,  C12Q2600/156 ,  C12Q2600/16 ,  C12Q2600/172

    摘要： The RH blood group antigens derive from two genes, RHD and RHCE, that are located at chromosomal position 1p34.1-1p36. In whites, a “cde” haplotype with a deletion of the whole RHD gene occurs with a frequency of about 40%. The relative position of the two RH genes and the location of the RHD deletion was previously unknown. A model for the RH locus was developed using RHD- and RHCE-related nucleotide sequences deposited in nucleotide sequence databases along with PCR and nucleotide sequencing. The open reading frames of both RH genes had opposite orientations. The 3′ ends of the genes faced each other and were separated by about 30,000 base pairs (bp) that contained the SMP1 gene. The RHD gene was flanked by two DNA segments, dubbed Rhesus boxes, that had about 9,000 bp length, 98.6% homology, and identical orientation. The Rhesus box contained the RHD deletion occurring within a stretch of 1,463 bp of identity. A PCR-SSP and a PCR-RFLP for specific detection of the RHD deletion was devised. The molecular structure of the RH gene locus explains mechanisms for generating RHD/RHCE hybrid alleles and the RHD deletion. Specific detection of the RHD negative genotype is now possible. The utility of the RHD PCR is limited by the incomplete knowledge of presumably rare RHD positive alleles in D negative. 1068 serologically RhD-negative samples were checked by PCR-SSP for the presence of RHD specific nucleotide sequences. 48 Samples were positive and were then assigned to specific PCR patterns or distinct RHD alleles. Seven PCR patterns were identified, three of which were not described previously, and four new RHD alleles that were RhD-negative because of nonsense or splice mutations. Another three new haplotypes represented a Del phenotype. Three samples were mislabeled weak D or partial D. The sensitivity of current RHD PCR methods exceeded routine serology. As the molecular background of D-negative alleles causing false-positive RHD PCR in whites is more heterogeneous than anticipated, improvements in test specificity will critically depend on detecting RhD-negative RHD positive alleles.

    METHOD FOR IDENTIFYING DISEASE RISK FACTORS
    95.
    发明申请
    METHOD FOR IDENTIFYING DISEASE RISK FACTORS 审中-公开
    识别疾病风险因子的方法

    公开(公告)号：US20150073025A1

    公开(公告)日：2015-03-12

    申请号：US14332867

    申请日：2014-07-16

    申请人： Zinfandel Pharmaceuticals, Inc.

    发明人： Allen D. Roses

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： Provided herein is a method for identifying a genetic variant that is associated with development of a condition of interest (e.g., Alzheimer's disease), and genetic variants so identified. Methods of treatment with an active agent (e.g., with a particular active agent and/or at an earlier age) is also provided, upon detecting a genetic variant described herein. In some embodiments, the genetic variant is a deletion/insertion polymorphism (DIP) of the TOMM40 gene. Kits for determining if a subject is at increased risk of developing late onset Alzheimer's disease is also provided. Kits for determining if a subject is responsive to treatment for a condition of interest with an active agent are further provided.

    摘要翻译： 本文提供了用于鉴定与兴趣条件（例如阿尔茨海默病）的发展相关的遗传变异体和如此鉴定的遗传变异体的方法。 在检测本文所述的遗传变体时，还提供了用活性剂（例如，与特定活性剂和/或较早年龄）一起治疗的方法。 在一些实施方案中，遗传变体是TOMM40基因的缺失/插入多态性（DIP）。 还提供了用于确定受试者是否处于发病晚期阿尔茨海默氏病的风险增加的试剂盒。 进一步提供用于确定受试者是否对活性成分感兴趣的病症的治疗有反应的试剂盒。