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    • 2. 发明申请
    • ARRAY-BASED POLYMORPHISM MAPPING AT SINGLE NUCLEOTIDE RESOLUTION
    • 单核苷酸多态性分析中基于阵列的多态性定位
    • WO2007084433A2
    • 2007-07-26
    • PCT/US2007000987
    • 2007-01-12
    • UNIV PRINCETONKRUGLYAK LEONIDBOTSTEIN DAVIDGRESHAM DAVIDRUDERFER DOUGLASPRATT STEPHEN
    • KRUGLYAK LEONIDBOTSTEIN DAVIDGRESHAM DAVIDRUDERFER DOUGLASPRATT STEPHEN
    • C12Q1/68
    • G06F19/20G06F19/18
    • Disclosed herein is a system useful for detecting sequence differences (e.g., single- nucleotide polymorphisms) between genomes using data from a single hybridization with a genomic DNA microarray, such as a whole-genome array. The methods described herein can be used to detect, simply and inexpensively, differences in sequence among the genomes of individual members of a species, for example. In examples described herein, the system and methods were used to detect a variety of spontaneous single base-pair substitutions, insertions and deletions, and most (>90%) of the approximately 30,000 known single-nucleotide polymorphisms between two Saccharomyces cerevisiae strains. The system and methods were also used to elucidate the genetic basis of phenotypic variants and identify the small number of single base-pair changes accumulated during experimental evolution of yeast.
    • 本文公开的是使用来自与基因组DNA微阵列(例如全基因组阵列)的单一杂交的数据来检测基因组之间的序列差异(例如,单核苷酸多态性)的系统。 本文描述的方法可用于例如简单且廉价地检测物种的各个成员的基因组之间的序列差异。 在本文描述的实施例中,系统和方法用于检测多种自发单碱基对取代,插入和缺失,并且大多数(> 90%)大约30,000个已知的两个酿酒酵母菌株之间的单核苷酸多态性。 系统和方法也用于阐明表型变体的遗传基础,并确定在酵母实验进化过程中累积的单碱基对变化的数量少。