HUMAN POLYMORPHIC ALU LOCI AS GENETIC MARKERS

描述：（改编自申请人摘要）高度多态 Alu基因座将被用作遗传标记， 连锁图谱 精细的遗传图谱对于遗传图谱的绘制是重要的。 疾病基因，用于研究杂合性缺失，并用于构建 人类基因组物理图谱。 Alu元件侧翼的区域来自 将对各种位点进行测序，并开发PCR引物以扩增 Alu元素 将筛选来自无关个体的PCR产物 因为它们能够通过PAGE、DGGE（变性） 梯度凝胶电泳）和SSCP（单链构象 多态性）技术。 然后将多态位点绘制成图 遗传的 这种基于PCR的基因分型方法将是一种重要的方法。 对目前使用的基因组Southern杂交方法的改进。 本研究中开发的寡核苷酸将成为重要的 人类基因组研究的研究产品。 在某些情况下，它们也可以是 用于遗传性疾病和肿瘤的诊断， 试验.

DESCRIPTION: (Adapted from the applicant's abstract) Highly polymorphic Alu loci will be used as genetic markers to refine the human genetic linkage map. A refined genetic map is important for mapping inherited disease genes, for studying loss of heterozygosity, and for constructing a physical map of the human genome. Regions flanking Alu elements from various loci will be sequenced and PCR primers will be developed to amplify the Alu elements. PCR products from unrelated individuals will be screened for their ability to reveal polymorphisms by PAGE, DGGE (denaturing gradient gel electrophoresis), and SSCP (single-stranded conformation polymorphism) techniques. The polymorphic loci will then be mapped genetically. Such a PCR based genotyping method will be a significant improvement over currently used genomic Southern hybridization methods. The oligonucleotides developed in this research will be an important research product for human genome research. In some cases they can also be used for the diagnosis of genetic diseases and tumors, and for identity testing.