Mathematical Sciences: Problems in Population Genetics

数学科学：群体遗传学问题

• 批准号: 9108262
• 负责人: Stanley Sawyer
• 金额: $ 9.6万
• 依托单位: Washington University
• 依托单位国家: 美国
• 项目类别: Continuing Grant
• 财政年份: 1991
• 资助国家: 美国
• 起止时间: 1991-08-01 至 1995-07-31
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=9108262&HistoricalAwards=false
• 关键词: Mathematical; Sciences; Problems; Population; Genetics

Theoretical models and DNA sequence analysis will be used to study gene conversion and other problems in genetics. A particular family of statistical tests that can detect specific instances of gene conversion as well as cryptic patterns of gene conversion will be studied. One aim will be to develop parametric models that would allow gene conversion and point mutation rates to be jointly estimated from DNA sequence data. A second major goal will be to apply these techniques to study gene conversion in the Alu family of repeated sequences, which has about 500,000 repeats in the human genome and constitutes about 5 per cent of total human DNA. The subfamily structure and relationships of the Alu repeats will also be studied, both for their own sake and for the extent to which family heterogeneity may affect statistical tests for gene conversion. The spontaneous mutation of genetic material is a major contributor both to evolution and to genetic disease. In many particular cases this mutation, rather than being purely random, has been shown to be the result of a conversion or copying process from nearby similar genetic material. The first part of the proposal will develop tests for detecting a cryptic pattern of gene conversion that may appear purely random, and to estimate the relative importance of the two mutational processes at a particular genetic loci. A significant pattern of gene conversion may imply a similar nearby genetic locus. Alu sequences are not only interesting for what they can tell about the evolution and structure of genetic material, they also have been used as tags of pieces of human DNA that have been cloned into bacterial plasmids or yeast chromosomes. If nearby Alu sequences show a pattern of gene conversion under certain circumstances, this can help to piece together these clones in the construction of the human genomic map.

理论模型和DNA序列分析将用于 研究基因转换和其他遗传学问题。 一 一个特殊的统计测试家族，可以检测特定的 基因转换的例子以及基因的隐藏模式 将研究转换。 一个目标是发展 参数模型，允许基因转换和点 突变率联合估计从DNA序列数据。 一 第二个主要目标将是应用这些技术研究基因 Alu家族中的重复序列的转换， 在人类基因组中约有500，000个重复， 占人类总DNA的10%。 亚家族结构和 Alu重复序列的关系也将被研究，无论是对于 他们自己的缘故，并为家庭异质性的程度， 可能会影响基因转换的统计检验。 遗传物质的自发突变是 对进化和遗传疾病都有贡献。 在许多 在特定情况下，这种突变不是纯粹随机的， 被证明是转换或复制的结果 从附近相似的遗传物质中提取。的第一部分 该提案将开发检测神秘图案的测试， 基因转换可能看起来纯粹是随机的， 这两个突变过程的相对重要性， 特定的基因位点 一种重要的基因模式 转换可能意味着相似的附近遗传位点。 Alu 序列的有趣之处不仅在于它们能告诉我们 遗传物质的进化和结构，它们也有 被用作克隆的人类DNA片段的标签 转化为细菌质粒或酵母染色体。 如果附近的Alu 序列显示在某些条件下基因转换的模式 在这种情况下，这可以帮助拼凑这些克隆， 人类基因组图谱的构建