Developmental Validation of a Single-Tube Amplification of the 13 CODIS STR Loci, D2S1338, D19S433, and Amelogenin: The AmpFℓSTR® Identifiler® PCR Amplification Kit

Collins, Patrick J.; Hennessy, Lori K.; Leibelt, Craig S.; Roby, Rhonda K.; Reeder, Dennis J.; Foxall, P. A.

doi:10.1520/jfs2002195

Cited by 219 publications

(170 citation statements)

References 20 publications

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“…The combination of these loci is consistent with several worldwide database recommendations for reliable determination of identity. 9 In addition, the presence of X and Y chromosome was determined by amplification using the primers complementary to DNA sequence of the amelogenin locus shared by both X and Y chromo- 10 Amplification of this region results in 107-and 113-bp products from the X and Y chromosomes, respectively. Genomic DNA of 0.5-1.25 ng was amplified in a 25-ml reaction mix containing 10.0 ml of AmpFlSTR reaction mix, 5.0 ml of AmpFlSTR primer mix and 0.5 ml AmpliTaq Gold DNA polymerase.…”

Section: Methodsmentioning

confidence: 99%

Absence of Y chromosome in human placental site trophoblastic tumor

et al. 2007

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Placental site trophoblastic tumor is a neoplasm of extravillous intermediate trophoblast at the implantation site, preceded in the majority of cases by a female gestational event. Our pilot investigation suggested that the development of this tumor might require a paternally derived X chromosome and the absence of a Y chromosome. Twenty cases of placental site trophoblastic tumor were included in this study. Genotyping at 15 polymorphic loci and one sex determination locus was performed by multiplex PCR followed by capillary electrophoresis. X chromosome polymorphisms were determined by PCR amplification of exon 1 of the human androgen receptor gene using primers flanking the polymorphic CAG repeats within this region. Genotyping at 15 polymorphic loci was informative and paternal alleles were present in all tumors, confirming the trophoblastic origin of the tumors. The presence of an X chromosome and the absence of a Y chromosome were observed in all tumors. Among 13 cases in which analysis of the X chromosome polymorphism was informative, all but one demonstrated at least two X alleles and seven cases showed one identifiable paternal X allele. These results confirm a unique pathogenetic mechanism in placental site trophoblastic tumor, involving an exclusion of the Y chromosome from the genome and, therefore, a tumor arising from the trophectoderm of a female conceptus. As epigenetic regulations of imprinting during X chromosome inactivation are of significant biological implications, placental site trophoblastic tumor may provide an important model for studying the sex chromosome biology and the proliferative advantage conferred by the paternal X chromosome.

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Section: Methodsmentioning

confidence: 99%

Absence of Y chromosome in human placental site trophoblastic tumor

et al. 2007

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“…Many commercial kits are available for the robust amplification of these core STR loci and will continue to play an important role in forensics (Butler, 2006). The Identifiler system includes the 13 CODIS along with 2 additional loci, D2S1338 and D19S433, which are used in most forensic labs to determine parentage (Collins et al, 2004). It has been shown that the D6S1043 and D12S391 loci are of high value in forensic parentage testing (Tong et al, 2010), and Penta D and Penta E are often used in forensic cases as non-CODIS markers (Salem et al, 2003;Alves et al, 2005;Chouery et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

Risk analysis of duo parentage testing with limited STR loci

Zhang¹,

Gao²,

Han³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. The aim of this study was to evaluate whether the Goldeneye 20A system (containing 19 short tandem repeats) can avert the shortage of duo parentage tests. Among routine cases typed by the Identifiler system, we identified 42 motherless cases, 2 fatherless cases, and 34 trio cases containing 1 locus mismatch and 4 motherless cases with 2 locus mismatches. One true trio case was rejected by fatherhood testing because of the omission of the mother's genotype and because the genotype of the putative father matched that of the child. All of the cases were retyped by the Goldeneye 20A system with the mother's or father's sample. In total, 39 motherless cases were verified by one mutation, 3 motherless cases were rejected for paternity, and 4 motherless cases with 2 locus mismatches were ruled out by fatherhood testing. After adding the father's genotype, 1 motherless case was confirmed by a single-locus mutation, whereas another case was rejected by motherhood testing. The mutation and exclusion rates detected with the Goldeneye 20A system accorded with the corresponding rates identified in the Identifiler system. The trio case also rejected fatherhood without the mother's genotype, and we found only 2 locus mismatches. Neither the Identifiler system nor the Goldeneye 20A system compensates for the absence of genetic information from the mother or father.

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“…The combination of improvements in chemistry and the evolution in analytical-separation, detection-platforms provides a plethora of applications. Merging advantages of fluorescent tags with mobility modifiers gives a unique electrophoretic signature for each amplified ligation product and enables extensive sample multiplexing for separation by capillary array electrophoresis with laser-induced fluorescence detection on an automated genetic analyzer [82,97,98]. The uses of fluorophores sensitized by fluorescence resonance energy transfer (FRET) provided detection kinetics of fluorescence accumulation, and combined PCR amplification with real-time detection [76,77,99,100].…”

Section: Extraction Of Compound And/or Challenging Samplesmentioning

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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Developmental Validation of a Single-Tube Amplification of the 13 CODIS STR Loci, D2S1338, D19S433, and Amelogenin: The AmpFℓSTR® Identifiler® PCR Amplification Kit

Cited by 219 publications

References 20 publications

Absence of Y chromosome in human placental site trophoblastic tumor

Absence of Y chromosome in human placental site trophoblastic tumor

Risk analysis of duo parentage testing with limited STR loci

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

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