RETINOSCHISIS--GENETIC LINKAGE AND POSITIONAL CLONING

视网膜劈裂--遗传连锁和位置克隆

• 批准号: 6113395
• 负责人: PAUL A SIEVING
• 金额: $ 0.02万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6113395
• 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，直到负责这种人类疾病的基因的位置克隆结束。视网膜造成的中央视力和外围视力受损，是少年黄斑变性的主要原因。 到目前为止，这项工作已将RS基因座的遗传间隔缩小，从前10厘米到3.4 cm，现在为0.9 cm。 该区域包含在3个YAC中，我们正在寻找表达的序列作为视网膜菌的候选基因。