Y-SNP-genotyping – a new approach in forensic analysis

Lessig, Rüdiger; Żołędziewska, Magdalena; Fahr, K.; Edelmann, Jeanett; Kostrzewa, Markus; Dobosz, Tadeusz; Kleemann, W. J.

doi:10.1016/j.forsciint.2004.09.129

Cited by 33 publications

(18 citation statements)

References 7 publications

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“…This process is not only extremely laborious but also highly time-and DNA-consuming. The Y-plexes created until now are mainly used for the refinement of subhaplogroups, and are based on the principle of single base extension (SBE) [4][5][6][7][8]. Although this technique is highly efficient and precise, it only allows a certain degree of multiplexing to take place.…”

Section: Introductionmentioning

confidence: 99%

SNPlexing the human Y‐chromosome: A single‐assay system for major haplogroup screening

et al. 2007

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SNPs are one of the main sources of DNA variation among humans. Their unique properties make them useful polymorphic markers for a wide range of fields, such as medicine, forensics, and population genetics. Although several high-throughput techniques have been (and are being) developed for the vast typing of SNPs in the medical context, population genetic studies involve the typing of few and select SNPs for targeted research. This results in SNPs having to be typed in multiple reactions, consuming large amounts of time and of DNA. In order to improve the current situation in the area of human Y-chromosome diversity studies, we decided to employ a system based on a multiplex oligo ligation assay/PCR (OLA/PCR) followed by CE to create a Y multiplex capable of distinguishing, in a single reaction, all the major haplogroups and as many subhaplogroups on the Y-chromosome phylogeny as possible. Our efforts resulted in the creation of a robust and accurate 35plex (35 SNPs in a single reaction) that when tested on 165 human DNA samples from different geographic areas, proved capable of assigning samples to their corresponding haplogroup.

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Section: Introductionmentioning

confidence: 99%

SNPlexing the human Y‐chromosome: A single‐assay system for major haplogroup screening

et al. 2007

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“…The Y-chromosome [159], however, is present with only one copy per normal cell, and has higher diversity than mtDNA in addition to an increasing number of Y-STRs [9, 155,160] completed by rapidly mutating (RM) markers [155,[160][161][162], Y-SNPs [155,160,[163][164][165] and insertion/deletion polymorph (Indel) markers [166,167]. Although, the analysis of Ychromosomal markers can provide complementary information in addition to an autosomal genetic profile [168], the most common application of Y-STRs is in cases of sexual assault, when the female component can greatly overshadow the male component, making autosomal STR profiling frequently difficult, unclear or impossible.…”

Section: Brief History Of Uniparental Lineage Markersmentioning

confidence: 99%

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

Pádár¹,

Zenke²,

Kozma³

2018

Post Mortem Examination and Autopsy - Current Issues From Death to Laboratory Analysis

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The importance of biological traces and evidences related to a criminal matter has been recognized for a long time. The examination of the expression of genetic polymorphism has been an integral part of the multidisciplinary field of medico-legal autopsy for over a century. Since the initial application of blood group antigens for personalization of a putative perpetrator in a murder case, the discipline of forensic genetics has evolved as a standard of forensic sciences. The real breakthrough, the application of molecular tools and processes for the in-vitro replication of genetic substances, has increasingly allowed the exploitation of advances of molecular genetics for both forensic and criminal investigations. Although there are certainly many more applications and scientific fields in the medico-legal arena, the relatively fast progress of genetics, which has accelerated recently with state-of-art technologies, can provide ever more relevant information in relation to a corpse or the cause and manner that resulted in the corpse for autopsy. This topic concerns the currently accepted forensic DNA technology, and the last section reviews commonly used markers for nuclear and mitochondrial DNA analysis as well as ongoing research. This review also focuses on the increasingly important non-human sources of DNA, and shortly covers the main aspects of animal forensic DNA examination.

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“…By varying the length of the single-stranded DNA fragment next to SNP position it is possible to analyze different SNPs in one PCR reaction (multiplex PCR) using capillary electrophoresis and a fluorescence detection unit. An example of such an minisequencing assay is given in figure 1 where we analyzed multiple mtDNA (mitochondrial DNA) haplotype-specific SNPs in a single reaction (SNaPshot Assay) [17][18][19][20][21][22][23].…”

Section: In Capillarymentioning

confidence: 99%

Molecular Diagnostics in Transfusion Medicine: In Capillary, on a Chip, in Silico, or in Flight?

Garritsen

Fan²,

Lenz³

et al. 2009

Transfus Med Hemother

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Serology, defined as antibody-based diagnostics, has been regarded as the diagnostic gold standard in transfusion medicine. Nowadays however the impact of molecular diagnostics in transfusion medicine is rapidly growing. Molecular diagnostics can improve tissue typing (HLA typing), increase safety of blood products (NAT testing of infectious diseases), and enable blood group typing in difficult situations (after transfusion of blood products or prenatal non-invasive RhD typing). Most of the molecular testing involves the determination of the presence of single nucleotide polymorphisms (SNPs). Antigens (e.g. blood group antigens) mostly result from single nucleotide differences in critical positions. However, most blood group systems cannot be determined by looking at a single SNP. To identify members of a blood group system a number of critical SNPs have to be taken into account. The platforms which are currently used to perform molecular diagnostics are mostly gel-based, requiring time-consuming multiple manual steps. To implement molecular methods in transfusion medicine in the future the development of higher-throughput SNP genotyping non-gelbased platforms which allow a rapid, cost-effective screening are essential. Because of its potential for automation, high throughput and cost effectiveness the special focus of this paper is a relative new technique: SNP genotyping by MALDI-TOF MS analysis.

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Y-SNP-genotyping – a new approach in forensic analysis

Cited by 33 publications

References 7 publications

SNPlexing the human Y‐chromosome: A single‐assay system for major haplogroup screening

SNPlexing the human Y‐chromosome: A single‐assay system for major haplogroup screening

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

Molecular Diagnostics in Transfusion Medicine: In Capillary, on a Chip, in Silico, or in Flight?

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