A rare mutation in the primer binding region of the Amelogenin X homologue gene

Use of Amelogenin locus typing as a gender marker incorporated in STR multiplexes is common practice in forensic genetics analysis. Among 5534 Polish male individuals tested using the SGMPlus kit, one was found to lack the amelogenin X-specific homologue (0.02%). The same result was obtained with other commercial kits which also amplify the amelogenin locus, namely ProfilerPlus and PowerPlex16. When alternative amelogenin primers external to but encompassing the initial amplicon were applied, an X homologue product was seen. Sequencing of the X homologue amelogenin allele revealed C to G mutation located at the most 3′ base of the commonly used amelogenin reverse primer. To our knowledge, this mutation and failure to amplify the X homologue of the amelogenin gene has not been reported for the European population.     

扩增Amelogenin基因用于生物检材种属鉴定

目的扩增Amelogenin基因测定血痕或组织的种属,以确定在法医学检验中的应用价值。方法收集猪、羊、马等10几种常见动物的血痕或肌肉组织,应用PCR扩增Amelogenin基因,PAGE电泳,银染后观察结果。结果哺乳动物猪、牛、狗、羊、马、驴动物血痕扩增产物为1条带,片段长度102bp。猕猴检见106bp和112bp两条带,与人血痕没有区别。兔、猫、鼠血痕未检出特异性片段。其它常见物种鳝鱼、青蛙、鸭、鹅、鸽、鹌鹑、麻雀等均未见扩增产物。结论扩增Amelogenin基因进行种属鉴定,方法简单,灵敏度高,可应用于法医检案。     

Unlocking the potential of forensic traces: Analytical approaches to generate investigative leads

Forensic investigation involves gathering the information necessary to understand the criminal events as well as linking objects or individuals to an item, location or other individual(s) for investigative purposes. For years techniques such as presumptive chemical tests, DNA profiling or fingermark analysis have been of great value to this process. However, these techniques have their limitations, whether it is a lack of confidence in the results obtained due to cross-reactivity, subjectivity and low sensitivity; or because they are dependent on holding reference samples in a pre-existing database. There is currently a need to devise new ways to gather as much information as possible from a single trace, particularly from biological traces commonly encountered in forensic casework. This review outlines the most recent advancements in the forensic analysis of biological fluids, fingermarks and hair. Special emphasis is placed on analytical methods that can expand the information obtained from the trace beyond what is achieved in the usual practices. Special attention is paid to those methods that accurately determine the nature of the sample, as well as how long it has been at the crime scene, along with individualising information regarding the donor source of the trace.     

A simple and cost-effective method for preparing DNA from the hard tooth tissue, and its use in polymerase chain reaction amplification of amelogenin gene segment for sex determination in an Indian population

The use of teeth as an important resource in the analysis of forensic case history by polymerase chain reaction (PCR) or other related methods has been reported. However, a major drawback in using teeth has been that the DNA is present only in trace amounts, and the methods to recover DNA from the flinty material have not been efficient or cost effective. In this report, we describe a method to prepare DNA from the hard tooth tissues. Our studies show that ultrasonication of teeth samples yields sufficient amounts of good quality DNA useful for PCR-based diagnostic methods. The teeth could serve as a reliable source of DNA for amplification-based forensic methods in sex determination. DNA could be obtained from any tooth, regardless of the age of subject. Furthermore, by using the AMEL gene-based primers in PCR, we have shown that the AMEL gene serves as a good marker for sex determination in the Indian population. In our study, the PCR-based method was sensitive and proved to be successful for sex determination with a complete specificity.     

Keeping the PEACE? A study of investigative interviewing practices in the public sector

Purpose. This study examined the interviewing ability of benefit fraud investigators, specifically examining the effects of training in the PEACE model. This model, preferred by the British police, is a mnemonic for the interview process: planning and preparation, engage and explanation, account, closure, and evaluation. Methods. An analysis was undertaken of 99 audiotapes of real‐life interviews with benefit fraud suspects, comparing performance levels between trained and untrained investigators, using an assessment scale consisting of 56 behavioural and procedural elements adapted from Clarke and Milne (2001) . Results. Some improvements were found in performance amongst the trained investigators notably with good practices being seen in the effective use of ‘open’ questions which facilitated increased information from suspects, in addition to a comprehensive fulfilment of the necessary legal requirements. Additionally, only rare occurrences were found of any unethical practices. However, the study also found little evidence of planning which was thought to affect interview content particularly in relation to their structure and flexibility. Concerns were also found with (i) shortfalls in rapport building, (ii) insufficient coverage of the points that required proving, (iii) failures to completely explore the suspect's motive and (iv) the lack of summarizing during the interview. Conclusions. The research found some performance improvement after interview training but this was insufficient to suggest a general trend towards increased professionalism. A need for further training was identified, both in the PEACE model and in other appropriate interviewing skills.     

Bodies found in the water. An investigative approach

The determination of the cause of death of a person whose body is found in the water requires careful investigative work on the part of both police and pathologists. Opinions as to cause and manner of death should not be derived from the autopsy alone but must result from a logical correlation of data regarding victim identity, circumstances, autopsy, and laboratory findings.     

Death due to a rare complication of colonoscopy and the potential medicolegal implications

A 64‐year‐old woman was found dead at home after undergoing a screening colonoscopy. At autopsy, 1.9 L of blood was discovered within her abdominal cavity. The only major abnormality was nontraumatic avulsion of the splenic capsule. This was the only identifiable abnormality capable of causing the severe hemoperitoneum and demise of the patient. Although rare, splenic capsule avulsion is a recognized complication of colonoscopy. Many have theorized that it results from excessive traction on the splenocolic ligament resulting in a tear of the splenic capsule. Most patients present within the first 24 hours after the procedure with nonspecific symptoms, and many patients may not seek medical attention. The paucity of the literature in the area of splenic capsular avulsion after colonoscopy reinforces the importance of reporting known cases, and by doing so raise awareness of this rare but devastating complication of an otherwise beneficial screening procedure.     

Perspective on the use of investigative genetic genealogy in Brazil

Since 2018, investigative genetic genealogy (IGG) has been used as a novel technology to solve cold cases. But IGG presents several ethical issues regarding privacy and regulation. IGG has never been used in Brazil although the number of direct-to-consumer (DTC) ancestry tests has been increasing and its users use open platforms in which IGG can be applied, such as GEDMatch, being susceptible to the same ethical problems as in those countries where IGG is being applied. We conducted an online survey with 166 clients of DTC ancestry tests (DTC) and 35 Brazilian CODIS Administrators (ADM) to evaluate their knowledge about the forensic application of genetic genealogy, their opinion about it, and a possible application in Brazil. Both groups support using IGG in violent crimes and missing persons (58.5% of DTC and 34.3% of ADM) but also showed concerns about the legislation and ethical issues (78.9–55.4% DTC and 97–65% ADM). Furthermore, 20% of ADM were against the use of this technique compared to the DTC (4%), probably due to the lack of knowledge of the methodology, its scope, and limitations. These results show the need to broaden the discussion on the IGG in various sectors of society.     

Gynaecological cytopathology and the search for perfection: civil liability and regulatory ramifications

The article analyses the potential for false negative and false positive results from Pap smear testing by gynaecological cytopathology laboratories. It also reviews case law in relation to the liability of general practitioners, gynaecologists, cytoscreeners and pathologists in respect of cervical cancer diagnoses. It argues that the concerns expressed in the 1990s about unfair findings of liability against cervical screeners have not been borne out, liability only having been found by the courts where culpable failure to adhere to the standards to be expected of professional behaviour has been established by probative evidence. It argues that the challenge for the future is for cytology screening to articulate definitively where the distinctions lie between acceptable and unacceptable error and for the medical profession and the legal profession to accommodate to the limitations of gynaecological cytopathology.     

Practical approach to investigative ethics and religious objections to the autopsy.

The application of investigative ethics to religious objections to the autopsy is essential for harmony in achieving the mission of medical legal death investigations. In Florida, an ethical advisory committee composed of religious, ethics, legal, and medical leaders established a unified statement for the practice of discretionary judgment and liaison with clergy. Our approach to religious objections to the autopsy as well as illustrative cases will be discussed.     

水通道蛋白-4研究进展及法医学意义

头颅创伤、脑卒中、脑肿瘤、缺血性脑损伤、出血性脑损伤均伴有脑水肿的发生，严重者可危及患者生命甚至造成死亡。水通道蛋白-4（Aquaporin-4）作为主要在脑组织中表达的水通道蛋白，起着调节脑内水转运的重要功能，参与脑水肿的病理生理过程，提示研究水通道蛋白-4表达水平可能为法医学外伤性脑损伤时间推断提供新的依据。     

HTR1A基因与相应精神疾病的关联及法医学意义

五羟色胺受体1A基因的遗传变异通过影响受体的表达量或与配体结合的活性变化而增强或减弱5-HT的功能,在抑郁症及部分精神系统疾病的发病机制中起着重要的作用。文章通过对HTR1A基因遗传学多态性与部分精神系统疾病的关系进行综述。研究HTR1A基因与抑郁、恐慌、冲动易怒等情绪变化在法医司法精神病鉴定中的意义,并从基因-心理-社会模型的角度探讨犯罪行为的成因。