Ancient DNA Analysis of the Delta F508 Mutation

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 fragment...

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Bibliographic Details
Published in:Human biology 2003-02, Vol.75 (1), p.105-115
Main Authors: BRAMANTI, BARBARA, HUMMEL, SUSANNE, CHIARELLI, BRUNETTO, HERRMANN, BERND
Format: Article
Language:English
Subjects:
Alleles
Biology
Bones
Brief Communications
Causes of
Cholera
Cystic fibrosis
Cystic Fibrosis - genetics
Demographic aspects
Deoxyribonucleic acid
DNA
DNA - genetics
DNA - isolation & purification
DNA Mutational Analysis
DNA Primers
Gene mutation
Gene mutations
Genes
Genetic aspects
Genetic loci
Genetic markers
Genetic mutation
Genetics
Health aspects
Human biology
Human genetics
Humans
Mutation
Physiological aspects
Polymerase chain reaction
Population biology
Product category rules
Sicily
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Summary: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 AmpF/STR 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.
ISSN:0018-7143
1534-6617
1534-6617
DOI:10.1353/hub.2003.0017