Segmental polymorphisms in the human genome

人类基因组的片段多态性

• 批准号: 7798982
• 负责人: WEI-WEN CAI
• 金额: $ 34.07万
• 依托单位: ATACTIC TECHNOLOGIES, INC.
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-05-01 至 2012-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7798982
• 关键词: Child; Chromosome abnormality; Collection; Constitutional; Copy Number Polymorphism; Cytogenetic Analysis; DNA; DNA Sequence Rearrangement; Data; Data Analyses; Disease; Disease susceptibility; Ethnic Origin; Ethnic group; Evaluation; Evolution; Family; Foundations; Frequencies; Future; General Population; Genetic Polymorphism; Genome; Genome Scan; Genomic Segment; Genomics; Genotype; Human; Human Genome; Individual; Informatics; Inherited; International; Online Systems; Parents; Phenotype; Population; Prevalence; Process; Reference Values; Resolution; Sampling; Structure; Syndrome; Techniques; Technology; Variant; base; developmental disease; genetic pedigree; grandparent; improved; insight; lymphoblast; novel; tool

DESCRIPTION (provided by applicant): Constitutional chromosomal abnormalities are common in human developmental disorders. Conventional cytognetic techniques have been tremendously successful in revealing such abnormalities. As high-resolution array based genome scanning technologies are being applied to detect subtle chromosomal abnormalities that are beyond the resolution of cytogenetics techniques it becomes important to distinguish whether the detected abnormalities are causal or just normal variants that exist in the general population. Recent studies indicated that copy number variations of large chromosomal segments are quite common in the general population. In this study, we propose to develop and apply fosmid clone arrays with complete genome coverage to analyze the genomes of a large number of normal individuals of different ethnic origin to obtain a global view of the variability of genomic segments without obvious phenotypes. This will provide the population baseline data that are of general reference value for future efforts of establishing phenotype- genotype correlation for novel subtle chromosomal abnormalities detected in various human syndromes using high-resolution array based technologies. These data will provide an important foundation for study of genomic structure and disease susceptibilities as well as genome evolution.

描述（由申请方提供）：体质性染色体异常在人类发育障碍中很常见。传统的细胞遗传学技术在揭示这种异常方面已经取得了巨大的成功。随着基于高分辨率阵列的基因组扫描技术被应用于检测超出细胞遗传学技术分辨率的细微染色体异常，区分所检测到的异常是因果性的还是仅存在于一般人群中的正常变体变得重要。最近的研究表明，大的染色体片段的拷贝数变异在一般人群中是相当普遍的。在这项研究中，我们建议开发和应用fosmid克隆阵列与完整的基因组覆盖，以分析大量的正常个体的基因组不同的种族起源，以获得一个全局视图的基因组片段的变异性没有明显的表型。这将提供群体基线数据，其对于使用基于高分辨率阵列的技术在各种人类综合征中检测到的新的细微染色体异常建立表型-基因型相关性的未来努力具有一般参考价值。这些数据将为研究基因组结构和疾病易感性以及基因组进化提供重要基础。