Construction of a General Human Chromosome Jumping Library, with Application to Cystic Fibrosis

• DOI: 10.1126/science.2950591
• Publication Date: 2006-10-05T20:28:58Z
• Authors: Francis S. Collins; Mitchell L. Drumm; Jeffery L. Cole; Wendy K. Lockwood; George F. Vande W...; Michael C. Iannuzzi
• Keywords: genomic DNA; Library; Positional cloning

In many genetic disorders, the responsible gene and its protein product are unknown. The technique known as "reverse genetics," in which chromosomal map positions genetically linked DNA markers used to identify clone such genes, is complicated by fact that molecular distances from closest itself often too large traverse standard cloning techniques. To address this situation, a general human chromosome jumping library was constructed allows of sequences approximately 100 kilobases away any starting point genomic DNA. As an illustration usefulness, searched for clone, at met oncogene, marker tightly cystic fibrosis located on 7. Mapping new fragment pulsed field gel electrophoresis confirmed it resides 7 within 240 downstream gene. use should now be applicable locus closely available.