RETINOSCHISIS--GENETIC LINKAGE AND POSITIONAL CLONING

视网膜劈裂--遗传连锁和位置克隆

• 批准号: 6274629
• 负责人: PAUL A SIEVING
• 金额: $ 2.15万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6274629
• 关键词: artificial chromosomes; family genetics; gene expression; human genetic material tag; linkage mapping; macular degeneration; molecular cloning; nucleic acid sequence

The project involves genetic linkage of retinoschisis pedigrees, toward the end of positional cloning of the gene responsible for this human disease. Retinoschisis causes impaired central and peripheral vision and is a leading cause of juvenile macular degeneration. Thus far, the work has narrowed the genetic interval for the RS locus, from a previous 10 cM, to 3.4 cM, and now to 0.9 cM. This region is contained in 3 YACs, and we are searching for expressed sequences as candidate genes for retinoschisis.

该项目涉及视网膜谱系的遗传联系，向 负责该人类的基因的位置克隆的终结 疾病。 视网膜造成中央视力和外围视力受损 并且是少年黄斑变性的主要原因。 到目前为止， 工作范围缩小了RS基因座的遗传间隔 10厘米至3.4厘米，现在为0.9厘米。 该区域包含在3中 YAC，我们正在寻找作为候选基因的表达序列 用于视网膜。