Use of the genomic matching technique to complement multiplex STR profiling reduces DNA profiling costs in high volume crimes and intelligence led screens

Laird, Rebecca; Dawkins, Roger L.; Gaudieri, Silvana

doi:10.1016/j.forsciint.2005.02.018

Cited by 5 publications

(3 citation statements)

References 27 publications

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“…In our opinion the full implication of this genomic picture are still not fully appreciated by many biomedical scientists despite the common place application of block concepts to GWA analyses for disease or complex trait discovery [18][19][20], to forensics [21,22] and the recognition that the synteny of the haplotype block structure is conserved across mammals [5,23].…”

Section: The Block Haplotype Structure Of the Genomementioning

confidence: 99%

Genesis of ancestral haplotypes: RNA modifications and reverse transcription–mediated polymorphisms

et al. 2011

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how mutations in newly synthesized RNA might be copied back to DNA thus accounting for some of the genome-wide strand biases (e.g. the A-to-G vs T-to-C component of the strand biased spectrum). We hypothesize that the genesis of PFBs and extended AHs occurs during mutagenic episodes in evolution (e.g. retroviral infections) and that many of the critical DNA sequence diversifying events occur first at the RNA level e.g. recombination between RNA strings resulting in tandem and dispersed RNA duplications (retroduplications), RNA mutations via adenosine-to-inosine pre-mRNA editing events as well as error prone RNA synthesis. These are then copied back into DNA by a cellular reverse transcription (RT) process (also likely to be error-prone) we have called "RTmediated long DNA conversion" (RT-LDC). Finally we suggest that all these activities and others can be envisaged as being brought physically under the umbrella of special sites in the nucleus involved in transcription known as "Transcription Factories" (TF).

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Section: The Block Haplotype Structure Of the Genomementioning

confidence: 99%

Genesis of ancestral haplotypes: RNA modifications and reverse transcription–mediated polymorphisms

et al. 2011

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“…The assay uses the principles of the Genomic Matching Technique,23 used by us, and other groups, to interrogate the highly complex MHC region for the identification of donor/recipient matches prior to bone marrow transplantation 26 – 29. More recently the technique has been extended to forensic applications30 and used within the RCA complex on chromosome 125 and the class II region of the canine MHC 31. The technique involves the specific amplification, with a single primer pair, of multiple complex geometric elements, all linked and located within duplicated segments.…”

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confidence: 99%

Epistasis between the MHC and the RCA block in primary Sjogren syndrome

Lester

McLure

Williamson

et al. 2008

Annals of the Rheumatic Diseases

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Objective:The RCAα block (Regulators of Complement Activation, 1q32) contains critical complement regulatory genes such as CR1 and MCP. This study examined RCAα block haplotype associations with both disease susceptibility and diversification of the anti-Ro/La autoantibody response in primary Sjögren syndrome (pSS).Methods:115 patients with pSS and 98 controls were included in the study. 93 of 109 (85%) of the patients with pSS were seropositive for Ro/La autoantibodies. The Genomic Matching Technique (GMT) was used to define RCAα block ancestral haplotypes (AH).Results:RCAα block haplotypes, AH1 and AH3, were both associated with autoantibody-positive pSS (p = 0.0003). Autoantibody associations with both HLA DR3 and DR15 have been previously defined. There was an epistatic interaction (p = 0.023) between RCAα AH1 and HLA DR3, and this genotypic combination was present in 48% of autoantibody-positive patients with pSS compared with 8% of controls. This epistasis is most simply attributable to an interaction between C4 and its receptor, CR1, encoded within the RCAα block. Both DR3 and a relative C4 deficiency are carried on the major histocompatibility complex 8.1 ancestral haplotype. Only four of 92 (4%) autoantibody-positive patients with pSS did not carry any risk RCAα or HLA haplotype, compared with 36 of 96 (38%) controls, and there were differences in haplotype frequencies within autoantibody subsets of pSS.Conclusions:Normal population variation in the RCAα block, in addition to the major histocompatibility complex, contributes genetic susceptibility to systemic autoimmune disease and the autoantibody response. This finding provides evidence for the role of regulation of complement activation in disease pathogenesis.

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“…A case involving sexual murder was solved through a mass dragnet screening of 2335 men in Germany using a combination of STR and mtDNA information (150). A genomic matching technique involving sequence blocks from the major histocompatibility complex has been proposed to complement STR typing in high-volume crimes and DNA dragnets (151).…”

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confidence: 99%

Forensic Science

2007

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Short Tandem Repeats 4367 Single Nucleotide Polymorphisms 4367 Y-Chromosome and X-Chromosome Analysis 4368 Mitochondrial DNA Typing 4369 Nonhuman DNA Typing Systems and Microbial Forensics 4369 DNA Databases, Mass Screens, and Mass Disasters 4369 Interpretation and Statistical Weight of DNA Typing Results 4370 General Reviews 4370 Trace Evidence 4370 Petroleum Products and Explosives 4370 Hairs, Fibers, Glass, and Paint 4371 Gunshot Residue Analysis 4372 Fingerprints 4372 Miscellaneous Trace Evidence 4372 Drugs and Poisons 4373 Ethanol and Volatiles 4373 Cannabinoids 4373 Morphine and Related Narcotics 4373 Amphetamines 4374 Benzodiazepines 4375 γ-Hydroxybutyrate and Related Compounds 4375 Miscellaneous Drugs 4375 Other Techniques 4376 Literature Cited 4377This applications review aims to present a concise survey of articles appearing in publications that primarily appeal to forensic practitioners. With this objective, we have focused our attention on the following journals:

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Use of the genomic matching technique to complement multiplex STR profiling reduces DNA profiling costs in high volume crimes and intelligence led screens

Cited by 5 publications

References 27 publications

Genesis of ancestral haplotypes: RNA modifications and reverse transcription–mediated polymorphisms

Genesis of ancestral haplotypes: RNA modifications and reverse transcription–mediated polymorphisms

Epistasis between the MHC and the RCA block in primary Sjogren syndrome

Forensic Science

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