公开(公告)号：US20090098557A1

公开(公告)日：2009-04-16

申请号：US12246068

申请日：2008-10-06

申请人： Jeffery M. Vance ,  Yi-Ju Li ,  Margaret A. Pericak-Vance ,  Eden R. Martin ,  William K. Scott ,  Michael A. Hauser ,  Jeffrey M. Stajich ,  Sofia Oliveira ,  Joelle van der Walt

发明人： Jeffery M. Vance ,  Yi-Ju Li ,  Margaret A. Pericak-Vance ,  Eden R. Martin ,  William K. Scott ,  Michael A. Hauser ,  Jeffrey M. Stajich ,  Sofia Oliveira ,  Joelle van der Walt

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/112 ,  C12Q2600/156 ,  C12Q2600/172

摘要： The present invention provides methods and compositions for screening a subject for Parkinson disease, for increased risk of developing Parkinson disease and/or for an earlier or later age of developing Parkinson disease, comprising detecting the presence of a genetic marker associated with Parkinson disease.

摘要翻译： 本发明提供用于筛选帕金森病受试者的方法和组合物，用于增加帕金森病发展的风险和/或发展中的帕金森病的早期或更晚年龄，包括检测与帕金森病相关的遗传标记物的存在。

公开(公告)号：US20100190264A1

公开(公告)日：2010-07-29

申请号：US11885336

申请日：2006-03-06

申请人： Margaret A. Pericak-Vance ,  Jonathan L. Haines ,  Eric Postel ,  Anita Agarwal ,  Michael A. Hauser ,  Silke Schmidt ,  William K. Scott

发明人： Margaret A. Pericak-Vance ,  Jonathan L. Haines ,  Eric Postel ,  Anita Agarwal ,  Michael A. Hauser ,  Silke Schmidt ,  William K. Scott

IPC分类号： G01N33/53 ,  G01N33/48

CPC分类号： C12Q1/6883 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/172 ,  Y10S436/809 ,  Y10T436/143333

摘要： Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD, but it was not identified. We identified a strongly associated haplotype in two independent data sets. DNA sequencing of the complement factor II gene (CHI) within this haplotype revealed a coding variant, Y402II, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This identifies Complement factor II as involved in pathogenesis of AMD. This single variant alone is so common that it likely explains 43 percent of AMD in older adults. In addition, we have replicated and refined previous reports implicating a coding change in LOC387715 as the second major AMD susceptibility allele. The effect of rs10490924 appears to be completely independent of the Y402II variant in the CFH gene. The joint effect of these two susceptibility genes is consistent with a multiplicative model, and together, they may explain as much as 65% of the PAR of AMD. In contrast, the effect of rs10490924 appears to be strongly modified by cigarette smoking. Smoking and LOC387715 together may explain as much as 34% of AMD. Our data indicate that variant genotypes at rs10490924 confer a substantially larger AMD risk to cigarette smokers than non-smokers. This observation is supported by traditional case-control modeling, by ordered subset linkage analysis (OSA) incorporating pack-years of cigarette smoking as a covariate, and by family-based association analysis using a more homogeneous set of families as defined by OSA.

摘要翻译： 年龄相关性黄斑变性（AMD）是老年人视力障碍和失明的主要原因，其病因仍然很大程度上未知。 以前的研究将染色体1q32鉴定为含有AMD的易感基因座，但尚未确定。 我们在两个独立的数据集中确定了强相关的单倍型。 该单体型中补体因子II基因（CHI）的DNA测序揭示了编码变体Y402II，显着增加AMD的风险，优势比在2.45和5.57之间。 这表明参与AMD发病机制的补体因子II。 单独这种变体是非常常见的，它可能解释了老年人中43％的AMD。 此外，我们已经复制和完善了以前的报告，暗示了LOC387715作为第二大AMD易感性等位基因的编码变化。 rs10490924的作用似乎完全独立于CFH基因中的Y402II变体。 这两个易感基因的共同作用与乘法模型一致，并且它们一起可以解释AMD的PAR的多达65％。 相比之下，rs10490924的效果似乎被吸烟强烈修改。 吸烟和LOC387715一起可能解释高达34％的AMD。 我们的数据表明，rs10490924的变异基因型给吸烟者带来了比非吸烟者显着更大的AMD风险。 传统的病例控制建模支持这种观察，通过将包含吸烟年数作为协变量的有序子集连锁分析（OSA）以及使用由OSA定义的更均匀的家族组成的家庭关联分析来支持。

公开(公告)号：US08088587B2

公开(公告)日：2012-01-03

申请号：US11885336

申请日：2006-03-06

申请人： Margaret A. Pericak-Vance ,  Jonathan L. Haines ,  Eric Postel ,  Anita Agarwal ,  Michael A. Hauser ,  Silke Schmidt ,  William K. Scott

发明人： Margaret A. Pericak-Vance ,  Jonathan L. Haines ,  Eric Postel ,  Anita Agarwal ,  Michael A. Hauser ,  Silke Schmidt ,  William K. Scott

IPC分类号： G01N31/00 ,  G01N33/53

CPC分类号： C12Q1/6883 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/172 ,  Y10S436/809 ,  Y10T436/143333

摘要： Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD, but it was not identified. We identified a strongly associated haplotype in two independent data sets. DNA sequencing of the complement factor II gene (CFII) within this haplotype revealed a coding variant, Y402II, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This identifies Complement factor II as involved in pathogenesis of AMD. This single variant alone is so common that it likely explains 43 percent of AMD in older adults. In addition, we have replicated and refined previous reports implicating a coding change in LOC387715 as the second major AMD susceptibility allele. The effect of rs10490924 appears to be completely independent of the Y402H variant in the CFH gene. The joint effect of these two susceptibility genes is consistent with a multiplicative model, and together, they may explain as much as 65% of the PAR of AMD. In contrast, the effect of rs10490924 appears to be strongly modified by cigarette smoking. Smoking and LOC387715 together may explain as much as 34% of AMD. Our data indicate that variant genotypes at rs10490924 confer a substantially larger AMD risk to cigarette smokers than non-smokers. This observation is supported by traditional case-control modeling, by ordered subset linkage analysis (OSA) incorporating pack-years of cigarette smoking as a covariate, and by family-based association analysis using a more homogeneous set of families as defined by OSA.

摘要翻译： 年龄相关性黄斑变性（AMD）是老年人视力障碍和失明的主要原因，其病因仍然很大程度上未知。 以前的研究将染色体1q32鉴定为含有AMD的易感基因座，但尚未确定。 我们在两个独立的数据集中确定了强相关的单倍型。 该单体型中补体因子II基因（CFII）的DNA测序揭示了编码变体Y402II，显着增加AMD的风险，优势比在2.45和5.57之间。 这表明参与AMD发病机制的补体因子II。 单独这种变体是非常常见的，它可能解释了老年人中43％的AMD。 此外，我们已经复制和完善了以前的报告，暗示了LOC387715作为第二大AMD易感性等位基因的编码变化。 rs10490924的作用似乎完全独立于CFH基因中的Y402H变体。 这两个易感基因的共同作用与乘法模型一致，并且它们一起可以解释AMD的PAR的多达65％。 相比之下，rs10490924的效果似乎被吸烟强烈修改。 吸烟和LOC387715一起可能解释高达34％的AMD。 我们的数据表明，rs10490924的变异基因型给吸烟者带来了比非吸烟者显着更大的AMD风险。 传统的病例控制建模支持这种观察，通过将包含吸烟年数作为协变量的有序子集连锁分析（OSA）以及使用由OSA定义的更均匀的家族组成的家庭关联分析来支持。

公开(公告)号：USD299373S

公开(公告)日：1989-01-10

申请号：US885437

申请日：1986-07-14

申请人： Matthew L. Parker ,  Michael A. Hauser

设计人： Matthew L. Parker ,  Michael A. Hauser

公开(公告)号：US4723779A

公开(公告)日：1988-02-09

申请号：US365195

申请日：1982-04-05

申请人： Michael A. Hauser

发明人： Michael A. Hauser

IPC分类号： A63B69/00 ,  A63B69/40

CPC分类号： A63B69/0013

摘要： A lightweight baseball base having gently inclined edges and an elastomeric filler material. The top of the base has a lateral dimension of between 50% to 65% of the total base lateral dimension, with the remainder equally divided between opposed inclined edges. The elastomeric filler is a shaped foam pad with a non-porous cover. The cover is fastened to a bottom support plate which has a tubular sleeve extending therefrom for anchoring the base.

摘要翻译： 具有轻轻倾斜边缘的轻质棒球基座和弹性体填充材料。 基部的顶部具有在总基础横向尺寸的50％至65％之间的横向尺寸，其余部分在相对的倾斜边缘之间分配。 弹性体填料是具有无孔盖的成形泡沫垫。 盖被固定到底部支撑板上，该底部支撑板具有从其延伸的管状套筒，用于固定底座。

公开(公告)号：US06451596B1

公开(公告)日：2002-09-17

申请号：US09562919

申请日：2000-05-02

申请人： Jeffrey S. Chamberlain ,  Andrea Amalfitano ,  Michael A. Hauser ,  Rajendra Kumar-Singh ,  Denis J. Hartigan-O'Connor

发明人： Jeffrey S. Chamberlain ,  Andrea Amalfitano ,  Michael A. Hauser ,  Rajendra Kumar-Singh ,  Denis J. Hartigan-O'Connor

IPC分类号： C12N1586

CPC分类号： C12N15/86 ,  A61K48/00 ,  C07K14/4708 ,  C12N7/00 ,  C12N2710/10343 ,  C12N2800/30 ,  C12N2830/008 ,  C12N2830/30

摘要： The present invention provides improved adenovirus vectors and packaging cell lines. One type of improved adenoviral vector comprises deletions within the E2b region of the adenoviral genome. These E2b-deleted virus are used in conjunction with novel cell lines that constitutively express E2b gene products. The present invention further provides adenoviral vectors deleted for all viral coding regions. These “gutted” vectors permit the transfer of large genes to cells as demonstrated herein by the transfer of the dystrophin gene to the muscle of mice. The E2b-deleted vectors and the gutted vectors provide improved adenoviral vectors useful for a wide variety of gene therapy applications.

摘要翻译： 本发明提供了改进的腺病毒载体和包装细胞系。 一种类型的改良的腺病毒载体包含在腺病毒基因组的E2b区域内的缺失。 这些E2b缺失的病毒与组成型表达E2b基因产物的新型细胞系一起使用。 本发明还提供了所有病毒编码区缺失的腺病毒载体。 这些“内含”载体允许将大基因转移到细胞中，如本文通过将肌营养不良蛋白基因转移到小鼠的肌肉所证明的。 E2b缺失的载体和内切的载体提供了可用于各种基因治疗应用的改良的腺病毒载体。