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GENETIC ANALYSIS OF HIV RESTRICTION AND TUMOR SUPPRESSOR GENES

GENETIC ANALYSIS OF HIV RESTRICTION AND TUMOR SUPPRESSOR GENES
HIV限制和肿瘤抑制基因的遗传分析
批准号:
5201540
负责人:
M DEAN
金额:
$0.0万
依托单位国家:
美国
项目类别:
财政年份:
--
资助国家:
美国
项目状态:
未结题
起止时间:
至

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中文摘要
翻译
一种复杂的疾病是一种由多种遗传和环境因素共同作用的疾病 各种因素导致了这种疾病的发展。这个 复杂疾病的分子基础鉴定仍是一项 在了解最常见的人类疾病方面迈出了关键的一步。这个 复杂疾病相关基因的鉴定 需要开发新的不同方法,包括 开发新的突变检测方法,以及 优化现有方法。了解特定角色的作用 复杂疾病中的基因需要获得敏感和 检测特定基因突变的有效方法。 因此,我们试图优化单链构象 并对该方法的效率进行了测定。对许多人来说 癌症类型有一小部分是由遗传性癌症引起的 这种疾病的形式。Von Hippel-Lindau病患者分析 使该基因中的一些突变得以确定,并 临床特征与突变类型的相关性。 基底细胞癌是皮肤癌的一种,是最常见的 人类常见的恶性肿瘤。雀巢样基底细胞癌患者 综合征(NBCCS)有多发性基底细胞癌以及某些 发育缺陷。遗传作图和物理作图技术 已经被用来生成NBCCS地区的详细地图。 对这一区域的克隆进行测序发现了一个新的成员 锌指转录因子家族基因。其中一个限制是 目前识别疾病基因的方法之一是能够快速地 在分析区域中找到基因。许多基因之前都有 富含CpG的DNA片段,通常包含非I限制 网站。已经证明,Not I位点周围的序列是 高度浓缩的转录序列。一块不含i的面板 3号染色体上的克隆已被用来鉴定表达序列 在肺肿瘤和肾细胞癌中通常缺失的区域。 其中一个基因是有丝分裂原激活蛋白的新成员。 激酶激活蛋白(MAP)家族的MAP激酶。
英文摘要
A complex disease is one in which multiple genetic and environmental factors contribute to the development of the disorder. The identification of the molecular basis of complex diseases remains a crucial step in the understanding of the most common human diseases. The identification of the genes that are involved in complex diseases requires the development of new different approaches, including the development of new methods for mutation detection, as well as the optimization of existing methods. Understanding the role of specific genes in complex diseases requires the availability of sensitive and efficient methods for the detection of mutations in specific genes. Therefore, we have sought to optimize the single-stranded conformation polymorphism method and determine the efficiency of the method. For many types of cancers a small percentage of the cases are due to an inherited form of the disease. Analysis of patients with von Hippel-Lindau disease has enabled a number of mutations in the gene to be identified and correlations made between clinical characteristics and mutation type. Basal cell carcinomas are a form of skin cancer and represent the most common human malignancy. Patients with the nevoid basal cell carcinoma syndrome (NBCCS) have multiple basal cell carcinomas as well as certain developmental defects. Genetic mapping and physical mapping techniques have been employed to generate a detailed map of the NBCCS region. Sequencing of clones in this region has identified a new member of the zinc finger family of transcription factor genes. One of the limitations of current approaches to identify disease genes is the ability to rapidly find genes in the region of analysis. Many genes are preceded by CpG-rich stretches of DNA, which frequently contain Not I restriction sites. It has been shown that sequences surrounding Not I sites are highly enriched for transcribed sequences. A panel of Not I-containing clones on chromosome 3 has been used to identify expressed sequences in a region commonly deleted in lung tumors, and in renal cell carcinomas. One of these genes is a new member of the mitogen-activated protein kinase-activated protein (MAP) family of MAP kinases.
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