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A pooling strategy for heterozygote screening of the ΔF508 cystic fibrosis mutation (1991)

Gille, Christoph ; Grade, Klaus ; Coutelle, Charles

Springer

Human genetics 〈Berlin〉 86 (1991), S. 289-291

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary A theoretical and practical approach to economize the analysis of large DNA sample numbers for identifying heterozygosity of the ΔF508 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 ΔF508 heterozygosity incidence of about 1/35. We show that the PCR method is sufficient to detect one heterozygote for the ΔF508 mutation in a pool of up to 49 non-delated DNA samples.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00202411

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