Source: M. Benecke (2022) in Hirak Ranjan Dash, Pankaj Shrivastava, José Antonio Lorente (eds.), Handbook of DNA Profiling, Springer Nature Singapore Pte Ltd. 2022, Online ISBN 978-981-15-9364-2, Print ISBN 978-981-16-4317-0, eBook ISBN 978-981-16-4318-7, Print version: see futher below, https://doi.org/10.1007/978-981-15-9364-2_23-2

Mark Benecke

Contents

Introduction

Case 1: Homicide

Case 2: Sexual Assault

Conclusion

References

Abstract

Two cases demonstrate that full reliance on biological stains (“CSI effect”) may, in complicated or unlikely case scenarios, lead to either wrongful convictions or no prosecution at all.

Case 1 was a homicide in a small town in which the short tandem repeat (STR) profile of the neighbor of the deceased was found on two fingers of the dead person. No motif for the crime was established. Transfer of DNA through newspapers was excluded even though the neighbors did share newspapers on a daily basis. We performed experiments and found an unexpected solution for the DNA findings.

In Case 2, a woman reported that she was anally raped for about 1 hour in her bed while her parents and grandfather were in the same house. The police and DA’s office of the larger city dismissed the case as improbable even though hematoma and anal fissures were documented in the hospital and the woman audio-recorded the event on her cell phone. On the oral, vaginal, and anal swabs, no or hardly any autosomal STRs of the man were found which led to a non-prosecution. On inspection of her pantyhose, we found clear signals from Y-STRs, though. We discuss structural problems that may occur even in highly standardized laboratories if wrong assumptions about – unlikely yet true – events enter the case files.

M. Benecke

Forensic Biology Unit, International Forensic Research & Consulting, Cologne, Germany e-mail: forensic@benecke.com

Keywords

CSI effect · DNA profiling · STR · Homicide investigation · Rape · Sexual assault · Homicide · Forensic DNA typing · DNA transfer · Case work

Introduction

Due to a surge of series like CSI in the 1990s, and many that followed and flashily dealt with laboratory techniques in crime cases, the general expectation of the public and (where installed) juries in crime cases was that all crime scenes must be subjected to genetic fingerprint analysis – the “CSI effect”. Soon, this became a “reverse CSI effect” (Reibe and Benecke 2010), i.e., “while jurors may have come to expect, as a result of CSI-type shows, high-tech forensic testimony in criminal cases, and may inappropriately acquit when such evidence is lacking, these same jurors, as a result of these same CSI-type shows, often place too much weight on forensic evidence in cases where forensic evidence IS in fact produced by the prosecution, resulting in convictions in cases where the defendant probably should have been acquitted” (Godsey and Alou 2011).

Two cases show that even in legal systems without a jury, high expectations on stains may lead nowhere if classical criminalistic thinking is not applied, even if DNA is present and seems to lead to obvious results (Benecke 2021b).

Case 1: Homicide

In 2002, a 65-year-old man who lived together with his female partner was convicted to a lifelong prison sentence for homicide II. In Germany, this usually means a stay in prison for at least 10 years or longer.

The now convict had no motive for killing his neighbor except an alleged smaller quarrel that had taken place a few years ago about an unknown matter. Some witnesses mentioned gossip that the two neighbors, both elderly men and brothers- in-law, did not speak to each other. Even though they shared the daily newspaper to save money. First, the later convict read it during daytime and then put it on the doorstep of his neighbor who picked it up in the afternoon and subsequently read it. During the trial, the gossip statements could not be corroborated; in contrast, it was found that many statements from villagers about general affairs between the inhabitants had been untrue.

The later convict had found his dead neighbor in the neighbor’s living room/ kitchen sofa. The dead person had been bound with zip ties on this wrists and ankles, lay on his face, and was beaten and stabbed to death. On the table, the equivalent of 300 US$ was found, and two drawers were pulled open. Our client, the finder of the dead man, then called the police. It remained unclear if a metal box with valuables was stolen from a cupboard. The finder remembered such a box from a former visit, the nephew of the deceased denied that such a box had existed. It was however established that jewelry of the dead man’s deceased sister was missing. The object used to batter the now dead man was not found. The front door was forcibly opened even though our client, the neighbor could have more easily walked over to the now dead man via a courtyard on the other side of the house.

In 2003, the trial was temporarily stopped after 39 trial days and the arrest warrant (custody) lifted. The inside areas of two fingers on the left hand of the deceased contained foreign DNA, and the judge decided – quote – to make this biological stain the deciding one. During questioning, the DNA expert (working for neither side but reporting for and to the court) said that the DNA on the fingers of the deceased may have been placed there due to the defendant “forcefully supporting his weight whilst binding the hands of the victim.” Nine out of nine STR systems matched the defendant’s DNA profile. In 2004, he was sentenced for malevolently killing his neighbor in his sleep.

The life partner and the medical doctor of the defendant said that the now sentenced man had severe back pain on the day of the murder, could not walk properly, and therefore could not have gone over to his neighbor much less apply force against him. This was confirmed in the doctor’s written files in his office. On the cable binders, no DNA was found. A human hair found at the crime scene was STR typed and found to be neither matching the genetic fingerprint of the defendant nor that of the deceased.

In 2008, we decided to check upon the possibility of secondary transfer of DNA via the newspaper that was shared between the neighbors. This topic had already been dealt with during trial, but the DNA expert then had stated that the amount of DNA found on the two fingers of the deceased was too high: After 30 PCR cycles that had been used, signals from secondary transfer reached signal levels between undetectable up to maximally 400 relative fluorescence units (RFUs), whereas primary stains reached levels of 600 RFU and above. According to the expert and the later verdict, DNA on paper is also bound more rigidly there and can therefore be not transferred easily from paper to skin.

DNA signal thresholds depend of course on the laboratory procedures and decisions made out of context (Coble and Hill 2012; Butler 2014). Since to our knowledge, no systematic studies about DNA transfer via newspaper reading – either via skin cells in sweat after scratching one’s head or regular skin lines/regular fingerprints – were available, we decided to replicate the situation with actual newspapers, actual readers, and the same STRs and machines (ABI Prism) used by the state laboratory. We found that freshly washed fingers did hardly transfer any DNA detectable by STRs to the fingers of the next reader, whereas unwashed fingers, especially after licking them, did lead to a transfer of higher amounts of DNA – mostly below 200 but sometimes, in single alleles, up to 800 RFUs (Fig. 1). Due to German laws and regulations and due to the absence of “Innocence Projects” like in the United States and England, the family had to pay all legal, laboratory, and expert costs.

A re-trial in Germany needs new, “never-used” evidence or stain groups; so our findings were technically considered to be of no juridical value: The matter of secondary DNA transfer was already dealt with in the first court decision and therefore “used up” procedurally, i.e., could not be presented again to request a new trial, even if our results seemed to be worth following scientifically.

We decided that criminalistically, the case was too much dependent on the DNA evidence, while much else, including the broken front door and financial transactions in the family, allowed other ideas of what had happened. To our surprise, our client, the now prisoner, told us in prison – while his new lawyer briefly stepped outside to visit the visitor’s restroom – that he, our client, had seen the murder, committed by his nephew, through the back window facing the yard. He “dared not to stir up this family matter,” “fully trusted the police,” and therefore waited until the nephew had left the scene of crime. Then, our client entered the scene and touched the hand of the deceased to see if he was alive. Our client dared not to speak to anyone about the incident which in light of his socialization under a dictatorial socialist regime with very strong, everyday presence of the secret service in all aspects of life is at least possible.

Baffled, we contacted the first lawyer of our client and asked him about this hard-to-believe statement which would easily explain the DNA of the convicted on the dead man’s fingers: high stress, sweaty fingers, and primary contact. The lawyer confirmed that from the beginning, this statement was indeed the only one his client had made to him. He, the lawyer, had however requested that the accused remain silent at all times during the trial.

At age 77, in summer 2014, our client was pardoned by the state’s governor. Juridically, the man remains the culprit, even though he immediately left prison and was not put on probation.

The focus on DNA during high times of the CSI effect led to a tunnel vision-like view that restricted the classical assessment of criminalistically relevant facts known in the case. It also led to a widespread yet in this case inadequate advice from lawyer to client: to remain silent and deny all (Sello 1911).

Case 2: Sexual Assault

In 2016, a 28-year-old woman reported to the police that she had been raped anally for around 1 hour in her bed in her parent’s home by a friend. Ejaculation had not taken place, even though a used towel was found in the bathroom of which the woman suspected it might contain sperm cells. The woman reported that no industrial lubricant was used, but the man spit in his hands and then transferred the saliva to his penis.

She had allowed the man to stay over night in her room because he had been drunk, and both had visited the same party event. The man reported to the police that he slept in the woman’s bed but did not touch her sexually. On the following morning, he went to work directly from the woman’s (which is also her parent’s) home. The woman said she did not call for help during the assault because she did not want to wake up and annoy her grandfather who also stayed in the same house. The woman recorded the event on her cell phone. On the sound file, she is heard saying that the man should stop; this utterance is repeated several times.

After the woman went to a local hospital the next day, four vaginal, two anal, and two oral swabs were taken. Town size is medium which means in Germany around 250,000 inhabitants. Forensic nurses do not exist in Germany even in larger cities, and scientific or medical forensic personnel of any kind was not involved at this stage. However, hematoma and scratches on the thorax, shoulders, and knees of the woman as well as lacerations in the anal area were documented photographically.

Since police did not suspect the man and found the woman’s statement incoherent, the State (i.e., not the National) Bureau of Investigations did not receive clean comparison samples from the man. The woman’s swabs were checked for human saliva (human α-amylase, dual monoclonal antibody quick strip test; detection limit 1 μL human saliva). All swabs were positive for saliva, with the highest amount of saliva on the anal swab. Autosomal short tandem repeat (STR) analysis led to “minute amounts of male DNA exclusively in the anal swab”; all other DNA matched the woman’s DNA profile. Neither underpants nor the towel were subjected to analysis. Y-STRs were not checked for unknown reasons even though good success rates even in spermatozoa negative digital (finger) and/or penile cases have been shown (Mcdonald et al. 2014).

The case was transferred to us by the woman in 2020 since no prosecution took place and the case had gone cold. We decided to focus on the slip that was worn by the woman before and after the possible intercourse and which had not been inspected yet. We rubbed different parts of the pantyhose thoroughly, subjected them to STR analysis, and found Y-chromosomal and autosomal STRs that matched a sample of the male’s DNA (Fig. 2). The matches were found on the outside seams on the front and back of the woman’s underpants as well as on the seams closer to the vaginal area. In total, 12 Y-STR loci matched to the men’s DNA, i.e., a control stain that must have come from the man.

It is known that DNA may be transferred accidentally, especially at the waistband area (Breathnach et al. 2016; Murphy et al. 2019; Benecke 2021a). This is either considered “background,” or it may be used in cases in which the clothing was stored unfavorably, and the offender’s DNA was indeed transferred by touch.

On the outside of garments, DNA – especially from skin flakes – may be present after sleeping in one bed. Since according to the man, no touching and no movement had taken place, and since he had not been sleeping in the woman’s bed in the months before, we tried to check the laboratory reports of the state lab for amounts and levels of DNA. However, those reports were not submitted to us since the case was considered to be closed by the DA’s office, i.e., the prosecution.

Our official request as Certified and Sworn In Experts for Biological Stains to receive the remaining swabs which were not needed any more (the case was “closed” from the state’s side) was also not complied with. Therefore, the only way to check the DNA levels on the original swabs was made impossible. It is unknown if (and unlikely that) those levels were ever determined since the – wrong – assumption and wrong laboratory result had been that no DNA was present on the pantyhose.

The family also detected a labeling error in the files. The hospital had accidentally switched two swabs. This might explain why “no” saliva of the man was found in the anal swab.

As in Case 1, due to German laws, the family had to pay all legal, laboratory, and expert costs apart from the State Lab’s work in this possible rape case. Since the sexual encounter, the woman had to drop her job and is now in treatment for posttraumatic stress disorder. She does not receive support under the Victim Assistance Act because she is not considered to be a victim but a faulty accuser.

Ultimately, it became impossible to determine the course of events on the relevant night, even though the DNA work was performed in a highly standardized, con- trolled, and certified state laboratory. The structural problem was that routine pro- cedures (here, autosomal STRs but no Y loci from swabs taken from the orifices of the complainant only) were applied too strictly. The rape case – its stains as well as the case work – should have been taken out of the routine line, and more items and stains should have been examined.

An obstacle in this case was that too less information between the routine laboratory, the police, and the family was exchanged. If this had been the case, samples like the underwear as well as the early laboratory reports that contained data about the relative amounts of DNA could have been more easily analyzed by an independent forensic biology case worker.

Another hurdle in Germany – for all cases that are initially thought to be based on faulty accusations – is that evidence, including swabs and clothing, will not be retained but destroyed soon. This is unfortunate since even very old cases can be worked on with DNA typing as long as the evidence is present (e.g., Louhelainen and Miller 2020).

Conclusion

Statements of victim and relatives might sometimes seem implausible but still contain leads that allow experimental follow-up using further methods, e.g., Y-STRs, peak height control experiments in the lab or in the field, or the simple check if the statement matches the evidence.

In contrast, “common sense” and logical plausibility can never be a concern during the stain examination stage. Thinking should be left to the court at a later stage. Otherwise, as demonstrated above, stains may get lost, become inaccessible, or lead to convenient but unsafe or untrue conclusions.

In other words, only “when you have excluded the impossible (by experiments), whatever remains, however improbable, must be the truth” (Doyle 1892).

Figures

Fig. 1

Our experiment: STR profiles due to experimental transfer via newspaper reading. Some alleles drop out; others may reach high fluorescence levels.

Fig. 2

Even in disputed or unlikely cases of sexual assault, it is helpful to check the seams of the clothing by tape lifting, cutting, or swabbing (Benecke 2021a, b). Here, we recovered clear Y-STR signals from the panties of the female complainant, whereas swabs from the body orifices during routine analysis in the state laboratory allegedly did not contain cells of the male offender.

References

Benecke M (2021a) Forensic DNA samples – collection and handling. In: Rogers R (ed) Encyclopedia of Medical Genomics and Proteomics, 2nd edn (in press). CRC Press/Taylor & Francis, Boca Raton

Benecke M (2021b) A routine rape case that became tricky (and educational), B47. In: Proceedings of the American Academy of Forensic Sciences (AAFS), 73rd meeting, p. 192

Breathnach M, Williams L, McKenna L, Moore E (2016) Probability of detection of DNA deposited by habitual wearer and/or the second individual who touched the garment. Forensic Sci Int Genet 20:53–60. https://doi.org/10.1016/j.fsigen.2015.10.001

Butler J (2014) Advanced topics in forensic DNA typing: interpretation. Academic, New York

Coble M, Hill B (2012) NIST applied genetics group: application of thresholds for interpretation. The Copenhagen forensic genetic summer school: Advanced topics in STR DNA analysis, June 27–28, 2012 (click for .pdf)

Doyle A (1892) The Adventure of the Beryl Coronet. In: The Adventures of Sherlock Holmes. George Newnes, London

Godsey M, Alou M (2011) She blinded me with science: wrongful convictions and the ‘Reverse CSI-Effect’. Texas Weleyan Law Rev 17:481–498

Louhelainen J, Miller D (2020) Forensic investigation of a shawl linked to the “Jack the Ripper” murders. J Forensic Sci 65:295–303. https://doi.org/10.1111/1556-4029.14038

Mcdonald A, Jones E, Lewis J, O’Rourke P (2014) Y-STR analysis of digital and/or penile penetration cases with no detected spermatozoa. Forensic Sci Int Genet 15:84–89. https://doi. org/10.1016/j.fsigen.2014.10.015

Murphy C, Kenna J, Flanagan L, Gorman M, Boland C, Ryan J (2019) A study on the background levels of male DNA on underpants worn by females. J Forensic Sci 65:399–405. https://doi.org/ 10.1111/1556-4029.14198

Reibe S, Benecke M (2010) Der reverse C.S.I.-Effekt. Wenn Spuren nicht beachtet werden. Kriminalistik 64:89–94; 174–179

Sello E (1911) Irrtümer der Strafjustiz und ihre Ursachen. R. von Decker’s Verlag/G. Schenck, Königlicher Buchhändler, Berlin

Print Version

Hirak Ranjan Dash, Pankaj Shrivastava, José Antonio Lorente (eds.) (2022) Handbook of DNA Profiling, ISBN: 9811643172, EAN: 9789811643170

SPRINGER NATURE, 23. February 2022, 1101 pages

This reference book comprehensively reviews the significance of DNA technology in forensic science. After presenting the theory, basic principles, tools and techniques that are used in forensic DNA typing, it summarizes various techniques, including autosomal STR, Y-STR, X-STR, mitochondrial DNA and NGS, used in solving both criminal as and civil cases, such as paternity disputes, identification of mutilated remains, and culprit identification in sexual assault and murder cases. It also provides an overview of DNA-based genetic diagnostics for various diseases, and discusses the role of DNA typing in drug reactions, as well as the application of non-human DNA profiling of animals and plants in forensic science investigations. Lastly, the book examines the role of internal quality control in maintaining the high quality of DNA profiling.

Contents

A Case Study on Murder Mystery Solved by DNA Typing

Subhasish Sahoo, Rashmita Samal

A Glimpse of Famous Cases in History Solved by DNA Typing

Hirak Ranjan Dash, Kamayani Vajpayee, Radhika Agarwal

Applications of NGS in DNA Analysis

Kelly M. Elkins, Hannah E. Berry, Kashiya R. Reese

Barcoding of Plant DNA and Its Forensic Relevance

Gianmarco Ferri, Beatrice Corradini, Francesca Ferrari, Enrico Silingardi

Biological Sources of DNA: The Target Materials for Forensic DNA Typing

Pankaj Shrivastava, R. K. Kumawat, Pushpesh Kushwaha, Manisha Rana

CBU Posttransplant Chimerism Analysis Using ChimerMarker™

Donato Madalese, Roberta Penta de Vera d’Aragona, Federica Schiano di Tunnariello, Giovanna Maisto

Challenges in DNA Extraction from Forensic Samples

Anna Barbaro

Challenges in the DNA Analysis of Compromised Samples

C. Haarkötter, M. Saiz, M. Alvarez-Cubero, J. C. Álvarez, J. Lorente

Collection, Preservation, and Transportation of Biological Evidences

Hirak Ranjan Dash, Kamayani Vajpayee

Current Status of DNA Databases in the Forensic Field

Sachil Kumar, Saranya Ramesh Babu, Shipra Rohatgi

Diagnosis of Genetic Disorders by DNA Analysis

Parag M. Tamhankar, Vasundhara P. Tamhankar, Lakshmi Vasudevan

DNA Extraction in Human Bodies: From Fresh to Advanced Stages of Decomposition

Venusia Cortellini, Lorenzo Franceschetti, Heitor S. D. Correa, Andrea Verzeletti

DNA isolation from human remains

M. Saiz, C. Haarkötter, X. Galvez, L. Martinez-Gonzalez, Maria Isabel Medina-Lozano, J. C. Álvarez

DNA Phenotyping: The Technique of the Future

Kamayani Vajpayee, Ritesh Kumar Shukla

DNA Profiling for Mass Disaster Victim Identification

E. V. Soniya, U. Suresh Kumar

DNA Profiling in Forensic Odontology

Pooja Puri, Mayank Kumar Dubey, Naresh Kumar

DNA-Based Analysis of Plant Material in Forensic Investigations

James M. Robertson, Natalie Damaso, Kelly A. Meiklejohn

Evaluation of the Autosomal STR Markers and Kits

Vikash Kumar

Forensic DNA Investigation

J. H. Smith

Forensic DNA: From New Approaches for the Bio-stain Identification to the Evaluation of the Genetics Evidence in Courtroom

E. D’Orio, P. Montagna, M. Mangione, G. Francione

Forensic Human Y-Chromosome Markers: Principles and Applications

Arash Alipour Tabrizi

Haplodiploid Markers and Their Forensic Relevance

Antonio Amorim, Nadia Pinto

InDel Loci in Forensic DNA Analysis

Tugba Unsal Sapan

Introduction to Forensic DNA Typing and Current Trends

Monika Chakravarty, Prateek Pandya

Logical Errors and Fallacies in DNA Evidence Interpretation

Andrei Semikhodskii

Molecular Markers and Genomics for Food and Beverages Characterization

Rita Vignani, Monica Scali, Pietro Liò

Molecular Techniques in Microbial Forensics

Neeti Kapoor, Pradnya Sulke, Ashish Badiye

Overview of Familial DNA and Forensic Phenotyping

Samuel D. Hodge, John Meehan

Potential of DNA Technique-Based Body Fluid Identification

Aditi Mishra, Ulhas Gondhali, Sumit Choudhary

Potential Use of DNA Profiling in Solving Terrorism Cases

Noora R. Al-Snan

Prenatal Diagnosis of Genetic Disorders by DNA Profiling

Inusha Panigrahi, Priyanka Srivastava

Quality Control Measures in Short Tandem Repeat (STR) Analysis

Heather Miller Coyle

Role of the Molecular Anthropologist in the Forensic Context

Elena Pilli

Sexual Assault and Murder: When DNA Does Not Help Even Though It Is Present

Mark Benecke

Short Tandem Repeat Mutations in Paternity Analysis

Uthandaraman Mahalinga Raja, Usharani Munuswamy, Rajshree Raghunath, Thilaga Dhanapal, Mahalakshmi Nithyanandam

Single-Nucleotide Polymorphism

Anubha Gang, Vivek Kumar Shrivastav

The Effect of Consanguineous Marriages in Solving DNA Cases

Noora R. Al-Snan, Fatima J. AlBuarki, Samreen S. Sayed

The Interpretation of Mixed DNA Samples

Francesco Sessa, Monica Salerno, Cristoforo Pomara

The Role of DNA Profiling in Landscape of Human Migration

J. A. Lorente, C. Haarkötter, M. Saiz, M. Medina-Lozano, X. Gálvez, M. J. Alvarez-Cubero et al.

The Use of Rapid DNA Technology in Forensic Science

Robert O’Brien

Tools and Techniques Used in Forensic DNA Typing

Akanksha Behl, Amarnath Mishra, Indresh Kumar Mishra

Touch DNA Analysis

Sourabh Kumar Singh, Amarnath Mishra, Akanksha Behl

Tracing of Human Migration and Diversity by Forensic DNA Analysis

Nithyanandam Mahalaxmi, Avinash Chand Puri, Pawan Kumar Chouhan, Alka Mishra

Use of DNA Barcoding for Plant Species Identification

Jaskirandeep Kaur Jossan, Rajinder Singh

Usefulness of Quantitative PCR in Forensic Genetics

Christian Haarkötter, María Jesús Alvarez-Cubero, Juan Carlos Alvarez, María Saiz

Usefulness of the X-Chromosome on Forensic Science

Cláudia Gomes, Eduardo Arroyo-Pardo

Using Laboratory Validation to Identify and Establish Limits to the Reliability of Probabilistic Genotyping Systems

Dan E. Krane, M. Katherine Philpott

Using Mitochondrial DNA in Human Identification

Pankaj Shrivastava, Manisha Rana, Pushpesh Kushwaha, D. S. Negi

Utility and Applications of Lineage Markers: Mitochondrial DNA and Y Chromosome

Sara Palomo-Díez, Ana María López-Parra

Validating Forensic DNA Workflows

Iman Muharam, Carla Paintner

Wildlife DNA Profiling and Its Forensic Relevance

Ulhas Gondhali, Aditi Mishra

Mark Benecke

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