ABNORMAL HEMOGLOBIN SYNTHESIS-MECHANISM & DETECTION
血红蛋白合成机制异常
基本信息
- 批准号:3483154
- 负责人:
- 金额:$ 40.63万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:1976
- 资助国家:美国
- 起止时间:1976-08-01 至 1994-07-31
- 项目状态:已结题
- 来源:
- 关键词:biological polymorphism bone marrow disease /disorder model female gene expression gene mutation gene therapy genetic disorder diagnosis genetic manipulation genetic regulation genetic transduction genetically modified animals hemoprotein biosynthesis human genetic material tag human subject laboratory mouse molecular cloning molecular pathology nucleic acid hybridization nucleic acid sequence orphan disease /drug point mutation population genetics prenatal diagnosis sickle cell anemia structural genes thalassemia tissue /cell culture transfer RNA
项目摘要
This research proposal deals with the continued investigation of the
hemoglobinopathies and thalassemia on a molecular level. It will
concentrate on four areas:
(1) Continued development of approaches to prenatal diagnosis for Beta
thalassemia by DNA analysis. During the past few years, direct methods of
prenatal diagnosis of Alpha thalassemia and sickle cell anemia by DNA
analysis have become available. The molecular lesions responsible for Beta
thalassemia are diverse and it is therefore important to determine the type
of mutation present in a given area. With this knowledge, specific methods
of prenatal diagnosis could be designed. The implementation of diagnosis
by DNA analysis will improve the safety and accuracy of the test. (2) The
molecular lesions causing the thalassemia mutations will continue to be
characterized. Such studies may further our understanding of the control
of globin gene expression. Unidentified Beta thalassemia genes obtained
from the work in (1) will be characterized. Interesting mutations which
may provide insight into the control of globin synthesis, and spontaneous
mutations will also be studied. (3) The transgenic mouse model will be
used to study regulation of human globin gene expression. This model may
provide a means for studying tissue-specific and developmental controls of
human globin gene expression. (4) The use of suppressor tRNAs as a means
of overcoming the nonsense mutation in Beta thalassemia will be
investigated. Human suppressor tRNA genes that insert lysine or glutamine
into the UAG codon will be introduced into erythroid cells from patients
with the Beta17 nonsense and Beta39 nonsense mutations.
本研究提案涉及对
血红蛋白病和地中海贫血。 它将
重点抓好四个方面:
(1)继续发展β-内酰胺酶产前诊断方法
地中海贫血DNA分析 在过去的几年里,直接的方法,
应用DNA技术产前诊断α地中海贫血和镰状细胞贫血
分析已经到位。 导致贝塔的分子损伤
地中海贫血是多种多样的,因此,重要的是要确定类型
特定区域的突变。 有了这些知识,
产前诊断是可以设计的。 诊断的实施
通过DNA分析将提高测试的安全性和准确性。 (2)的
导致地中海贫血突变的分子病变将继续存在,
表征了 这些研究可能会进一步了解控制
珠蛋白基因的表达。 获得不明β地中海贫血基因
在(1)中的工作将被表征。 有趣的突变,
可以提供洞察珠蛋白合成的控制,和自发的
还将研究突变。 (3)转基因小鼠模型将
用于研究人类珠蛋白基因表达的调控。 该模型可
为研究组织特异性和发育控制提供了一种手段,
人珠蛋白基因表达。 (4)使用抑制性tRNA作为手段
克服β地中海贫血无义突变的方法
研究了 插入赖氨酸或谷氨酰胺的人类抑制性tRNA基因
将被引入来自患者的红系细胞中
Beta17无义突变和Beta39无义突变
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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{{ truncateString('YUET Wai KAN', 18)}}的其他基金
Reprogramming iPS Cells with Exogenous and Endogenous Transcription Factor Genes
使用外源和内源转录因子基因重编程 iPS 细胞
- 批准号:
8917047 - 财政年份:2015
- 资助金额:
$ 40.63万 - 项目类别:
Reprogramming iPS Cells with Exogenous and Endogenous Transcription Factor Genes
使用外源和内源转录因子基因重编程 iPS 细胞
- 批准号:
8710193 - 财政年份:2014
- 资助金额:
$ 40.63万 - 项目类别:
Development of iPS Cells for Treatment of Hemoglobinopathies
开发用于治疗血红蛋白病的 iPS 细胞
- 批准号:
8710192 - 财政年份:2011
- 资助金额:
$ 40.63万 - 项目类别:
Development of iPS Cells for Treatment of Hemoglobinopathies
开发用于治疗血红蛋白病的 iPS 细胞
- 批准号:
8332252 - 财政年份:2011
- 资助金额:
$ 40.63万 - 项目类别:
Development of iPS Cells for Treatment of Hemoglobinopathies
开发用于治疗血红蛋白病的 iPS 细胞
- 批准号:
8150802 - 财政年份:2011
- 资助金额:
$ 40.63万 - 项目类别:
Development of iPS Cells for Treatment of Hemoglobinopathies
开发用于治疗血红蛋白病的 iPS 细胞
- 批准号:
8532884 - 财政年份:2011
- 资助金额:
$ 40.63万 - 项目类别:
Development of iPS Cells for Treatment of Hemoglobinopathies
开发用于治疗血红蛋白病的 iPS 细胞
- 批准号:
8917036 - 财政年份:2011
- 资助金额:
$ 40.63万 - 项目类别:
FETAL MONKEY MODEL FOR GENE THERAPY FOR SICKLE CELL DISEASE
用于镰状细胞病基因治疗的胎猴模型
- 批准号:
7715557 - 财政年份:2008
- 资助金额:
$ 40.63万 - 项目类别:
FETAL MONKEY MODEL FOR GENE THERAPY FOR SICKLE CELL DISEASE
用于镰状细胞病基因治疗的胎猴模型
- 批准号:
7562145 - 财政年份:2007
- 资助金额:
$ 40.63万 - 项目类别:
FETAL MONKEY MODEL FOR GENE THERAPY FOR SICKLE CELL DISEASE
用于镰状细胞病基因治疗的胎猴模型
- 批准号:
7349628 - 财政年份:2006
- 资助金额:
$ 40.63万 - 项目类别:
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