ArticleInternational journal of legal medicine2015
Deletion and duplication at DYS448 and DYS626 loci: unexpected patterns within the AZFc region of the Y-chromosome.
Article in International journal of legal medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 21 citations in OpenAlex.
- A comprehensive analysis of Y-chromosomal diversity in Colombian populations.International journal of legal medicine · 2026Article
- Recovery of male DNA acquired from carrion-feeding insects in a simulated sexual assault scenario.Journal of forensic sciences · 2026Article
- The Contribution of Massively Parallel Sequencing in Disclosing Unusual Tri- and Tetra-Allelic Type Patterns Detected at the Multicopy Loci DYS385a/b and DYF387S1.International journal of molecular sciences · 2026Article
- The genetic aetiology of male infertility: clinical and forensic implications.Molecular biology reports · 2026Review
- Case report on multilocus gene deletion and gene conversion at Y-STR loci.International journal of legal medicine · 2026Article
- High incidence of AZF duplications in clan-structured Iranian populations detected through Y chromosome sequencing read depth analysis.Scientific reports · 2023Article
- Empirical Evidence on Enhanced Mutation Rates of 19 RM-YSTRs for Differentiating Paternal Lineages.Genes · 2022Article
- Developmental validation of the Microreader™ RM-Y ID System: a new rapidly mutating Y-STR 17-plex system for forensic application.International journal of legal medicine · 2022Article
- Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication.Frontiers in genetics · 2021Article
- Deletions and duplications of 42 Y chromosomal short tandem repeats in Chinese Han population.International journal of legal medicine · 2021Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Increasing the knowledge of multiple and microstructural events within the Y-chromosome may prove useful to better characterize abnormal short tandem repeats patterns complicating DNA profile interpretation. On the long arm of the human Y-chromosome, such structural rearrangements were observed in azoospermia factor regions (AZFa, AZFb, AZFc) that play an important role in male fertility and also host Y-STRs commonly used in forensic genetics. Here, we describe two cases, involving two males formerly included in an Italian population study, where DYS448 and DYS626 loci, located within the AZFc region, simultaneously displayed a double deletion in one case and a double duplication in the other. With the aim of better defining the size of both events, low and high-resolution mapping by means of 16 sequence-tagged sites was performed, and unexpected discontinued patterns within the palindromic segments b1/b3 of the AZFc were identified. Extending the analysis to their respective male relatives revealed unaltered transmission of the patterns along the two pedigrees. Reviewing literature data describing DYS448-DYS626 deletion and duplication suggested no close correlation between the occurrence of multiple/microstructural events and geographical origin.
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