A pooling strategy for heterozygote screening of the ΔF508 cystic fibrosis mutation

✍ Scribed by Christoph Gille; Klaus Grade; Charles Coutelle

• Book ID: 104661681
• Publisher: Springer
• Year: 1991
• Tongue: English
• Weight: 258 KB
• Volume: 86
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00202411

✦ Synopsis

A theoretical and practical approach to economize the analysis of large DNA sample numbers for identifying heterozygosity of the AF508 mutation causing cystic fibrosis is presented. Sample pooling can reduce the number of polymerase chain reaction (PCR) tests for this mutation by up to 77%. Based on a mathematical model, the optimal number (n) of samples to be united in one pool is 24 for a German population with a AF508 heterozygosity incidence of about 1/35. We show that the PCR method is sufficient to detect one heterozygote for the AF508 mutation in a pool of up to 49 non-delated DNA samples.