ArticleInternational journal of legal medicine2012
A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR.
Article in International journal of legal medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 66 citations in OpenAlex.
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- Developmental validation of a novel all-in one assay of X chromosomal multi-insertion/deletion loci for forensic genetics.Scientific reports · 2024Article
- Chromosomes of Asian Cyprinid Fishes: Genomic Differences in Conserved Karyotypes of 'Poropuntiinae' (Teleostei, Cyprinidae).Animals : an open access journal from MDPI · 2023Article
- Article
- Development and Performance Evaluation of a Novel Ancestry Informative DIP Panel for Continental Origin Inference.Frontiers in genetics · 2021Article
- Development and Validation of a Forensic Multiplex System With 38 X-InDel Loci.Frontiers in genetics · 2021Article
- Detection of cell-free foetal DNA fraction in female-foetus bearing pregnancies using X-chromosomal insertion/deletion polymorphisms examined by digital droplet PCR.Scientific reports · 2020Article
- Twenty Years Later: A Comprehensive Review of the X Chromosome Use in Forensic Genetics.Frontiers in genetics · 2020Review
- Genetic characterization of 32 X-InDels in a population sample from São Paulo State (Brazil).International journal of legal medicine · 2019Article
- Potential forensic use of a 33 X-InDel panel in the Argentinean population.International journal of legal medicine · 2017Review
- Detecting a hierarchical genetic population structure via Multi-InDel markers on the X chromosome.Scientific reports · 2016Article
- X-chromosomal 21-indel marker panel in German and Baltic populations.International journal of legal medicine · 2016Article
- Developmental validation of an X-Insertion/Deletion polymorphism panel and application in HAN population of China.Scientific reports · 2015Article
- Population genetic study of 34 X-Chromosome markers in 5 main ethnic groups of China.Scientific reports · 2015Article
- The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers.European journal of human genetics : EJHG · 2015Article
- Evaluating the X chromosome-specific diversity of Colombian populations using insertion/deletion polymorphisms.PloS one · 2014Article
- Beyond STRs: The Role of Diallelic Markers in Forensic Genetics.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2012Article
- Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing.PloS one · 2012Article
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Authors and funding
9 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Studies of human genetic variation predominantly use short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) but Insertion deletion polymorphisms (Indels) are being increasingly explored. They combine desirable characteristics of other genetic markers, especially the possibility of being analysed using short amplicon strategies, which increases the ease of analysis, contributing to justify their interest in population and forensic genetics. After the advent of autosomal and uniparental genomes (mtDNA and Y chromosome), these fields of research are also focusing on the X chromosome, given its special transmission pattern. The X chromosome markers brought new insights into the history of modern human populations and also proved useful in forensic kinship investigations, namely in deficient relationship cases and in cases where autosomes are uninformative. This work describes an X-Indel multiplex system amplifying 32 biallelic markers in one single PCR. The multiplex includes X-Indels shown to be polymorphic in the major human population groups and follows a short amplicon strategy. The set was applied in the genetic characterization of sub-Saharan African, European and East Asian population samples and revealed high forensic efficiency, as measured by the accumulated power of discrimination (0.9999990 was the lowest value in males and 0.999999999998 was the highest in females) and mean exclusion chance varied between 0.998 and 0.9996 in duos and between 0.99997 and 0.999998 in trios. Finally, a segregation analysis was performed using trio constellations of father-mother-daughters in order to address the transmission pattern and assess mutation rates of this type of markers.
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