Ancient DNA Analysis of the Delta F508 Mutation

Document Type

Article

Authors

Barbara Bramanti, Historical Anthropology and Human Ecology, University of Göttingen, Germany., Institute of Anthropology, University of Florence, Italy.
Susanne Hummel, Historical Anthropology and Human Ecology, University of Göttingen, Germany.
Brunetto Chiarelli, Institute of Anthropology, University of Florence, Italy.
Bernd Herrmann, Historical Anthropology and Human Ecology, University of Göttingen, Germany.

Abstract

When working with highly degraded DNA, validating the results of a slightly polymorphic system always complicates the analysis because of the difficulties in recognizing contamination and artifacts. Recognition can be greatly simplified by employing a multiplex reaction that coamplifies the fragments together with several highly polymorphic markers, for instance, short tandem repeats. In this work, we successfully included newly designed oligonucleotide primers for the detection of delta F508, the most frequent mutation causing cystic fibrosis, in the commercial AmpFlSTR Profiler Plus™ PCR Amplification Kit (PE Applied Biosystems). This coamplification enabled us to test the hypothesis of a heterozygote advantage associated with cystic fibrosis—specifically, higher resistance to toxin-mediated diarrheas—in a Sicilian skeletal sample of individuals who died in a cholera epidemic in 1837. The proposed method should also be suitable for the genetic characterization of other slightly polymorphic loci tested on human and animal ancient DNA; it should permit simple authentication of results by comparing the fingerprints obtained from independent amplifications repeated several times.

Recommended Citation

Bramanti, Barbara; Hummel, Susanne; Chiarelli, Brunetto; and Herrmann, Bernd (2003) "Ancient DNA Analysis of the Delta F508 Mutation," Human Biology: Vol. 75: Iss. 1, Article 10.
Available at: https://digitalcommons.wayne.edu/humbiol/vol75/iss1/10