Mechthild Prinz

Mechthild Prinz
City University of New York - John Jay College of Criminal Justice | John Jay CUNY · Department of Sciences

About

118
Publications
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August 2013 - present
City University of New York - John Jay College of Criminal Justice
Position
  • Professor (Associate)

Publications

Publications (118)
Article
Objective: The main goal of this study was to explore the latent structure and genetic basis of cognitive processes involved in the Wisconsin Card Sorting Task (WCST) within phenotypic, behavioral genetic, and molecular genetic research paradigms. Method: The sample used in phenotypic and behavioral genetic analyses comprised 468 twins (154 mono...
Article
Full-text available
Two studies examined genetic and environmental influences on traits proposed by the revised Reinforcement Sensitivity Theory (rRST) of personality. Both quantitative and molecular behavioral genetic methods were applied considering the effects of COMT, DRD2, HTR1A and TPH2 single nucleotide polymorphisms (SNPs). Study one included 274 monozygotic a...
Article
Full-text available
The main aim of this study was to explore the etiology of relations between general cognitive ability (g) and different hierarchical phenotypic levels of the Five Factor Model (FFM), including the General Factor of Personality (GFP), the Big Two, the five domains of the FFM, and their 30 facets. The second aim was to detect personality facets that...
Article
The first aim of this study was to explore the aetiology of phenotypic relationships between different measures of executive functions. The second objective was to examine sources of the covariation between different measures of executive functions and the measure of general cognitive ability. The study sample consisted of 468 twins (154 pairs of m...
Article
This study examines cultural differences in genetic and environmental influences on Five-Factor Model (FFM) across Croatian, German and Serbian cultures. Participants were 1021 monozygotic and 722 dizygotic twin pairs and NEO Five-Factor Inventory– NEO-FFI is used to assess FFM personality traits. Results show a similar pattern of genetic and envir...
Article
Full-text available
The aim of this study was to explore genetic and environmental contributions to laboratory‐induced aggressive behavior. On a sample of 478 adult twins (316 monozygotic), the Competitive Reaction Time Task was used for aggression induction. The results showed that the initial, basic level of aggression could be explained by both shared (45%) and non...
Article
Forensic genetic laboratories perform a large amount of STR analyses of the Y chromosome, in particular to analyze the male part of complex DNA mixtures. However, the statistical interpretation of evidence retrieved from Y-STR haplotypes is challenging. Due to the uni-parental inheritance mode, Y-STR loci are connected to each other and thus haplot...
Article
The use of biostatistical software programs to assist in data interpretation and calculate likelihood ratios is essential to forensic geneticists and part of the daily case work flow for both kinship and DNA identification laboratories. Previous recommendations issued by the DNA Commission of the International Society for Forensic Genetics (ISFG) c...
Article
The statistical evaluation of autosomal Short Tandem Repeat (STR) genotypes is based on allele frequencies. These are empirically determined from sets of randomly selected human samples, compiled into STR databases that have been established in the course of population genetic studies. There is currently no agreed procedure of performing quality co...
Article
The DNA Commission of the International Society for Forensic Genetics (ISFG) is reviewing factors that need to be considered ahead of the adoption by the forensic community of short tandem repeat (STR) genotyping by massively parallel sequencing (MPS) technologies. MPS produces sequence data that provide a precise description of the repeat allele s...
Article
Identifying human remains is one of the many responsibilities of forensic scientists. An eye- and skin-color predictor translates genotypic information into phenotypic description. Eight single nucleotide polymorphisms (SNPs) are utilized for this predictor, five for eye, and six for skin coloration. Here, we describe the development and validation...
Article
Sequencing mitochondrial DNA hypervariable regions I and II (HVI and HVII) is useful in forensic missing person and unidentified remains cases. Improvements in ease and sensitivity of testing will yield results from more samples in a timely fashion. Routinely, amplification of HVI and HVII is followed by Sanger sequencing using the BigDye(®) Termin...
Chapter
Mass disasters can be natural disasters such as earthquakes, floods or bush fires, or man-made incidents like transportation (airline, train) accidents, terrorist attacks and war. Mass fatality events with victims from more than one country require international cooperation of local forensic experts and national and international agencies. In most...
Chapter
This chapter provides an overview of DNA testing in forensic casework. It places importance on the forensic pathology perspective and the knowledge required to understand the capabilities and limitations surrounding DNA evidence collection, testing and interpretation. The chapter describes the basics of testing relationships in forensic routine cas...
Article
Full-text available
Aim To improve the 7-plex system to predict eye and skin color by increasing precision and detailed phenotypic descriptions. Methods Analysis of an eighth single nucleotide polymorphism (SNP), rs12896399 (SLC24A4), showed a statistically significant association with human eye color (P = 0.007) but a rather poor strength of agreement (κ = 0.063). T...
Article
Full-text available
Standard methods for body fluid identification typically rely on detection of the functional proteins specific to or enriched in them, such as hemoglobin in blood, alkaline phosphatase and PSA in semen, or α-amylase in saliva. While these markers can be relatively specific, the multiple methods used to identify them frequently rely on nonspecific c...
Article
DNA mixture analysis is a current topic of discussion in the forensics literature. Of particular interest is how to approach mixtures where allelic drop-out and/or drop-in may have occurred. The Office of Chief Medical Examiner (OCME) of The City of New York has developed and validated the Forensic Statistical Tool (FST), a software tool for likeli...
Article
DNA profiling of biological material from scenes of crimes is often complicated because the amount of DNA is limited and the quality of the DNA may be compromised. Furthermore, the sensitivity of STR typing kits has been continuously improved to detect low level DNA traces. This may lead to (1) partial DNA profiles and (2) detection of additional a...
Article
Full-text available
Menstruation is the expulsion of the endometrial lining of the uterus following a nearly month long preparation for embryo implantation and pregnancy. Increasingly, the health of the endometrium is being recognized as a critical factor in female fertility, and proteomes and transcriptomes from endometrial biopsies at different stages of the menstru...
Article
Validation of testing methods is an essential feature in all scientific endeavors, but it is particularly important in forensics. Due to the sensitive nature of these investigations and the limited sample size it is crucial to validate all employed procedures. This includes novel forensic phenotypic DNA tests, to learn more of their capabilities an...
Article
Laser capture microdissection (LCM) is an accurate and robust tool for isolation and separation of pure cell populations from heterogeneous mixtures via direct visualization and collection of elements. In this study, the capability of the P.A.L.M.® LCM for separation of sperm and epithelial cells, combined with immunofluorescent Sperm HY-LITER™ sta...
Article
The likelihood ratio (LR) is the recommended approach for forensic DNA mixture analysis by the DNA commission of the ISFG, as it makes maximum use of available data and parameters for allelic drop-out and drop-in can be incorporated. We have developed and validated a LR method and software for analysis of mixed evidence samples in which drop-out of...
Article
In-hospital pulmonary embolism (PE) has been extensively studied in large populations; however, out-of-hospital fatal PE studies are rare. Here, we systematically evaluated a large number of decedents who suffered fatal PE outside of hospitals and were subsequently investigated by the New York City Office of Chief Medical Examiner. A total of 578 c...
Article
An essential component in identifying human remains is the documentation of the decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is decomposed or only skeletal remains are found, this critical, visibly identifying information is lost. It would be beneficial to use genetic information to reveal these visib...
Article
The use of non-human DNA typing in forensic science investigations, and specifically that from animal DNA, is ever increasing. The term animal DNA in this document refers to animal species encountered in a forensic science examination but does not include human DNA. Non-human DNA may either be: the trade and possession of a species, or products der...
Article
While investigating the potential for genetic instability in chronic inflammatory disease, using ulcerative colitis (UC) as a model, we analyzed microsatellite DNA of both pre- and post-surgical affected and histologically normal tissues. These samples were also characterized using the forensic Identifiler® Multiplex System from ABI. Apparent insta...
Article
Full-text available
To test the reliability, robustness, and reproducibility of short tandem repeat (STR) profiling of low template DNA (LT-DNA) when employing a defined set of testing and interpretation parameters. DNA from known donors was measured with a quantitative real time polymerase chain reaction (PCR) assay that consistently detects less than 1 pg/microL of...
Article
To evaluate the effect of genetic instability and degradation in archived histology samples from cancerous tumors and to investigate the validity of short tandem repeat (STR) typing of these samples and its potential effect on human identification. Two hundred and twenty eight slides of archival pathology tissues from 13 different types of malignan...
Article
Qualitative information on the sequence composition of the allele and locus structure of the X-STRs DXS8378, DXS9898, DXS6789, GATA31E08, and GATA172D05 was generated in this study. Sequence data were obtained from chimpanzees (Pan troglodytes) and diverse human population groups including Africans, Caucasians, Asians, African-Americans, and Hispan...
Article
The Paternity Testing Commission (PTC) of the International Society for Forensic Genetics has taken up the task of establishing the biostatistical recommendations in accordance with the ISO 17025 standards and a previous set of ISFG recommendations specific to the genetic investigations in paternity cases. In the initial set, the PTC recommended th...
Conference Paper
Sequence variation for the X chromosome short tandem repeats (X-STRs) DXS9898, DXS6789 and GATA172D05 was studied in two major population groups, namely Caucasians and Africans. DXS6789 revealed two different subtype sequence polymorphisms: for shorter alleles, with less than 17 repeats, results showed a simple composition with the following struct...
Article
Full-text available
An X-chromosomal multiplex amplifying ten short tandem repeats (STRs) in one single PCR reaction was developed and optimized in this work. The X-STRs included were DXS8378, DXS9898, DXS8377, HPRTB, GATA172D05, DXS7423, DXS6809, DXS7132, DXS101, and DXS6789. Decaplex performance was tested on 377 male samples from three United States population grou...
Article
Full-text available
The ISFG membership consists of scientists and medical professionals specialized in using genetic testing for kinship analysis and the individualization of biological material. This expertise makes the forensic geneticist a resource of advice to international and national organizations dealing with human identifications and causes many DNA laborato...
Article
Detailed histopathologic examination remains to be the basis for the diagnosis of hydatidiform mole (HM). However, poor sampling, necrosis, and earlier uterine evacuation can lead to uncertainty in the diagnosis. Also, the criteria are subjective, resulting in considerable interobserver variability. The p57(KIP2) gene is paternally imprinted and ma...
Article
The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y-chromosome polymorphisms, with particular emphasis on short tandem...
Article
Using high sensitivity forensic STR polymerase chain reaction (PCR) typing procedures, we have found low concentrations of DNA contamination in plasticware and water assumed to be sterile, which is not detected by standard DNA procedures. One technique commonly used to eliminate the presence of DNA is ultraviolet (UV) irradiation; we optimized such...
Article
The DNA commission of the International Society of Forensic Genetics (ISFG) was convened at the 21st congress of the International Society for Forensic Genetics held between 13 and 17 September in the Azores, Portugal. The purpose of the group was to agree on guidelines to encourage best practice that can be universally applied to assist with mixtu...
Article
STR typing results for 70 pairs of healthy vs. malignant tissues demonstrate the occurrence of microsatellite instability (MSI) and loss of heterozygosity (LOH) in the tumor samples. In order to not misinterpret degradation effects as LOH, this study recommends to only interpret alleles ≤ 350 bp with a peak intensity > 300 RFU. mtDNA data for the s...
Article
In order to produce database-eligible DNA profiles from touched objects, each testing procedure including sample recovery, extraction, amplification and separation was evaluated and optimized. The developed methodologies were tested on control samples as well on fingerprints deposited on a variety of substrates such as credit cards, keys, and pens....
Article
Sudden fatal pulmonary thromboembolism (PE) is very common in Caucasians and results in over ∼120,000 deaths per year. There are both acquired and inherited risk factors for PE. The three most common mutations are Factor V Leiden G1691A, Prothrombin G20210A, and MTHFR C677T. We have developed an in-house molecular testing methodology using polymera...
Article
Full-text available
To report on the successful use of Laser Capture Microdissection (LCM) as a tool for isolation of human chorionic villi from admixed maternal tissue. Subsequent DNA isolation for forensic short tandem repeat (STR) analysis for parentage testing was performed in two cases of alleged sexual assault of female victims. We also performed validation of t...
Article
To develop an automated, high throughput extraction protocol in order to produce database eligible profiles from fingerprints and other low copy number (LCN) DNA sources. Extraction of either purified control DNA or buccal cells, for example, with commercial kits was compared to extraction with a simple digestion buffer and a subsequent concentrati...
Article
Full-text available
Automated procedures for forensic DNA analyses are essential not only for large-throughput sample preparation, but are also needed to avoid errors during routine sample preparation. The most critical stage in PCR-based forensic analysis is DNA isolation, which should yield as much highly purified DNA as possible. The extraction method used consists...
Article
Y chromosome-specific short tandem repeat (Y-STR) analysis has become another widely accepted tool for human identification. The PowerPlex Y System is a fluorescent multiplex that includes the 12 loci: DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439. This panel of markers incorporates the 9-locus European min...
Article
Y chromosome-specific short tandem repeat (Y-STR) analysis has become another widely accepted tool for human identification. The PowerPlex® Y System is a fluorescent multiplex that includes the 12 loci: DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439. This panel of markers incorporates the 9-locus European mi...
Article
A total of 2443 male individuals, previously typed for the 13 CODIS STR loci, distributed across the five North American population groups African American, Asian, Caucasian, Hispanic, and Native American were typed for the Y-STR loci DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 using the PowerPlex Y Syste...
Article
Melanocytomas of the eye are typically benign tumors that may be associated with nevi and melanomas. In this study, we assessed the genetic data of melanocytomas and compared them with nevi and melanomas of both the eyes and the skin. We microdissected 8 melanocytomas, 13 uveal melanomas, and 10 cutaneous melanomas and analyzed loss of heterozygosi...
Article
A study was conducted to investigate the accuracy between two methods of hair analysis: PCR-STR DNA analysis and microscopic comparison analysis. Standard sets of pubic hairs were collected from volunteers, and unknown sets were generated from these samples. Three out of five (60%) of the hairs analyzed produced full DNA profiles that were correctl...
Article
The AluQuant (Promega Corporation) liquid hybridization DNA quantitation method was evaluated on an automated robotic platform (Biomek 2000, Beckman Coulter, Fullerton, CA) for use in forensic PCR-STR systems. DNA from bloodstains and buccal swabs was extracted by three different methods: Chelex, Qiagen and DNA IQ (Promega). Samples were quantitate...
Article
Full-text available
A tiny fragment of high-grade carcinoma was found in histologic sections and in the paraffin block of a benign cervical polyp from a patient with no clinical evidence of malignancy. Thus, it raised the suspicion of block contamination. No malignant tumor was processed the same day as the polyp; however, a similar tumor had been processed 6 days ear...
Article
A tiny fragment of high-grade carcinoma was found in histologic sections and in the paraffin block of a benign cervical polyp from a patient with no clinical evidence of malignancy. Thus, it raised the suspicion of block contamination. No malignant tumor was processed the same day as the polyp; however, a similar tumor had been processed 6 days ear...
Article
Y-chromosome-specific human DNA markers can be a useful tool in forensic casework. Several case scenarios are presented to point out the advantages and disadvantages of Y-STR testing over autosomal STR testing. The main advantage of the Y-STR approach is the ability to detect the male component even in extreme mixtures of male and female DNA. It is...
Article
Full-text available
To present individual body identification efforts, as part of the World Trade Center (WTC) mass disaster identification project. More than 500 samples were tested by using polymerase chain reaction (PCR) amplification and short tandem repeat (STR) typing. The extent to which the remains were fragmented and affected by taphonomic factors complicated...
Article
Full-text available
To investigate geographic structure within U.S. ethnic populations, we analyzed 1705 haplotypes on the basis of 9 short tandem repeat (STR) loci on the Y-chromosome from 9-11 groups each of African-Americans, European-Americans, and Hispanics. There were no significant differences in the distribution of Y-STR haplotypes among African-American group...
Article
The FES short tandem repeat (STR) locus contains seven to 14 repeats of the tetranucleotide sequence ATTT. A novel 10 base pair dimorphism in the 5' flanking region of the FES locus was characterized in four broad populations: African-American, Hispanic, Caucasian, and Asian. The absence of the 10 base pair sequence, or (-) allele, was closely link...
Article
We describe here an online Y-chromosomal short tandem repeat haplotype reference database (YHRD) for U.S. populations, which represents 9-locus Y-STR haplotypes for 1705 African-Americans, European-Americans and Hispanics as of October 2001. This database is available online (http://www.ystr. org/usa/), free to access and was generated in order to...
Article
A panel of Y-specific STR loci, including DYS19, DYS389, DYS390, DYS391, DYS392, and DYS393 was analyzed using horizontal nondenaturing polyacrylamide gel electrophoresis with a discontinuous buffer system (horizontal disk-PAGE). In order to obtain correct results for the larger DYS389 and DYS392 alleles, it was necessary to design new primers that...
Article
During the past few years, the DNA Commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area - namely, Y-chromosome polymorphisms,...
Article
Pentanucleotide tandem repeat markers are interesting for forensic sciences, because they may present less stutter on the electrophoretic pattern. We focused on the analysis of the DNA sequence for each allele at the pentanucleotide STR locus D10S2325 in order to understand their structures in the human genome and to construct human allelic ladder,...
Article
In this work, we present sequencing data for 12 recently reported Y STR loci (DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, GATA A10, GATA 7.1, GATA 7.2, GATA C4, GATA H4, GATA A4), as well as the PCR multiplex strategies we implemented for their detection. Sequenced allelic ladders were constructed and a nomenclature for these new systems is pro...