Ancient DNA Analysis of the Delta F508 Mutation
Bibliographic Data
| ID | 6067977 |
|---|---|
| Authors | Barbara Bramanti (0000-0002-5433-663X, University of Göttingen), Hummel (0000-0002-3647-8968), Susanne Hummel, A B Chiarelli, Andrea Chiarelli (0000-0001-7336-8330), Bernd Herrmann (0009-0000-1851-8746) |
| Year | 2003 |
| Volume | 75 |
| Issue | 1 |
| Pages | 105-115 |
| Publication date | 2003-01-01 |
| Open Access | No |
| Type | ARTICLE |
| Venue | Human Biology (JOURNAL) |
| Journal identifiers | ISSN: 0018-7143 • E-ISSN: 1534-6617 |
| Publisher | Project MUSE (PUBLISHER • US) |
| DOI | 10.1353/hub.2003.0017 |
| PMID | 12713151 |
| OpenAlex | W2018818620 |
| Language | EN |
| Citations received | 4 |
| References cited | 8 |
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
Allele · Ancient DNA · Biology · DNA · DNA profiling · Gene · Genotype · Indel · Microsatellite · Mutation · Polymerase chain reaction · Population · Single-nucleotide polymorphism · Cystic Fibrosis Research Advances · Genetics · Medicine · Molecular Biology · Protist diversity and phylogeny · Vibrio bacteria research studies
DNA extraction from Pleistocene bones by a silica-based purification method
The selective advantage of cystic fibrosis heterozygotes tested by aDNA analysis
STR Allelic Frequencies in a German Skeleton Collection
Megaplex DNA typing can provide a strong indication of the authenticity of ancient DNA amplifications by clearly recognizing any possible type of modern contamination
Evaluation of morphological sex determinations by molecular analyses
Molecular sex identification of stillborn and neonate individuals ("Traufkinder") from the burial site Aegerten
| Citations per year | 0.2 |
|---|---|
| Citation span | 2006 - 2015 (10) |
| Highly cited | No |