Deception in DNA Profiling: A Case Report
Arun Sharma1*, Ashwani Bhardwaj2, Meenakshi Mahajan2, Shivam Saini2 and Shivkant Sharma3
1Department of Forensic Science, Himachal Pradesh University, India
2Regional Forensic Science Laboratory, Northern Range, Dharamshala, Himachal Pradesh, India
3Departments of Genetics, Maharishi Dayanand University, Haryana, India
Submission:February 07, 2022;Published:March 24, 2022
*Corresponding author:Arun Sharma, Department of Forensic Science, Himachal Pradesh University, India
How to cite this article:Arun S, Ashwani B, Meenakshi M, Shivam S, Shivkant S. Deception in DNA Profiling: A Case Report. J Forensic Sci & Criminal Inves. 2022; 15(5): 555921 DOI:10.19080/JFSCI.2022.15.555921.
Abstract
The product of conception and fetus of initial development stage, more often than not, become a challenging task to address human identity issues due to number of reasons. A case of identity of abandoned male fetus was required to be established by an investigation agency from small quantity of tissue material preserved by the autopsy surgeon. The DNA analysis revealed that material was of female origin and not in consonance with the gender mentioned in the postmortem report. Rare Y-deletion in Amelogenin marker reported in the Indian population was ruled out through Y-STR analysis. The remaining fetal tissue was analyzed and yielded a complete male DNA profile. The application of genetic genealogy helped in resolving the issue as relationship between the two DNA profiles was established.
Keywords: Fetal Tissue; Relationship Analysis
Introduction
The unintended pregnancy in any society is a social taboo especially in case of unwed mother. The social stigma is often associated with termination of pregnancy, as a consequence thereof, many may resort to terminate pregnancy without intervention of approved public/private facility. The incidence of abortion is a worldwide phenomenon and is prevalent in all societies by adopting different means to terminate the pregnancy. There are globally 73.3 million abortions every year as per WHO report [1]. The data from American population showed that a total of 625,346 abortions were reported. The rate of abortion was 11.4 abortions per 1000 women aged 15-44 years and 79% of abortions were performed at ≤ 9 weeks gestation and 92.7% were performed ≤ 13 weeks gestation [2]. The total numbers of abortions in India were 15.6 million, out of which 3.4 million (22%) took place in health facilities, 11.5million (73%) were done with medical methods outside facilities and 5% are expected to have been done through other methods. The rate of incidence of abortion was 47 per 1000 women of reproductive age (15-49 years) which was close to the figure of neighboring countries like Pakistan (50), Nepal (42), and Bangladesh (39) [3]. In this case report, an aborted fetus (approx.12 weeks gestation period) was found abandoned in an open drain of the town which was noticed by the police and sent to the autopsy surgeon for preservation of samples for DNA testing in order to generate investigating lead to provide insight about the perpetrator of crime.
Materials and Methods
Approximately 5-8 gms tissue preserved from finger of an aborted fetus was used for DNA analysis. Prior to DNA isolation, the tissue sample weighing about 3-4 gms was taken and washed thoroughly with nuclease free water (Ambion, Life Technologies Corporation, Austin). The sample was subjected to DNA isolation through automated DNA extraction (using Magnetic bead-based method using Qiagen EZ1 Advanced XL). The isolated DNA was checked for quality and quantity through 0.8% agarose gel electrophoresis. The autosomal STR DNA was amplified using Power plex 21 PCR amplification kit as per standard protocol (Power Plex® 21 System, Promega, USA). The Y-STR was amplified using Power plex Y23 PCR amplification kit as per standard protocols (Power Plex® Y23 System, Promega, USA). The PCR amplification was carried out on ABI Verity Thermal Cycler (Thermo Fisher Scientific). The amplified PCR products were analyzed with automated Genetic Analyzer ABI 3130. The data was analyzed using Gene Mapper software to generate DNA profiles. The DNA profiles were analyzed through Gene Marker HID v 3.0.0 for relationship testing for 13 CODIS markers viz. CSF1PO, TPOX, TH01, vWA, D16S539, D7S820, D13S317, D5S818, FGA, D8S1179, D18S51, D21S11, D3S1358 using General Asian Population database for allele frequency.
Results and Discussions
An autosomal STR DNA profile pertaining to a female was observed based on amelogenin marker from the randomly sampled tissue of fetus (Table 1) whereas the source tissue was of a male fetus as identified on the basis of developed genitals. There are reports in the Indian population that showed rare Y-deletion in the amelogenin markers [4] and the possibility of rare Y-deletion in the population was required to be ascertained to rule out any ambiguity in sex determination. No Y-STR DNA profile could be obtained on analysis confirming the female gender of the tested fetal tissue. In order to rule out any fallacy in the test, the remaining tissue was analyzed and yielded a male DNA profile (Table 2) which was in agreement with the observation of male fetus mentioned in the postmortem report but was in contrast to the first DNA findings that of female origin. In this case study, we explored further to solve the mystery of two different DNA profiles from the same tissue. DNA profiles were analyzed through Gene Marker software to establish the linkage. In this experiment, the Likelihood Ratio (LR) was calculated for different relations like Parent-Child, Full-Siblings, Half-Siblings & Cousins (Table 3).



The LR data clearly revealed the Parent-Child relationship between the generated DNA profiles. The emergence of genetic genealogy in recent times has proved a boon for resolving human identity problems. The investigative genetic genealogy is a highly effective tool for using DNA to determine the identity of unknown individuals [5]. The development of two types of DNA profiles from fetal tissue could be attributed to non-adherence of proper sampling protocols in handling the fetal tissue. The presence of female DNA profile could be attributed to maternal DNA contamination as both the DNA profiles were found genetically related. A mechanism is required in place with strong emphasis to ensure the validity of results by way of replicate testing or retesting (ISO: IEC 17025:2017) as a measure of quality assurance in the laboratory so that erroneous conclusions are not drawn to avoid incorrect reporting of results besides adopting sampling protocols and can prove beneficial especially in a case where fetus is of female origin. on account of lack of understanding of DNA sampling protocol to be employed at the time of sampling had led to a bizarre situation but due caution exercised in the laboratory did save from erroneous conclusions and reported the correct DNA results.
Acknowledgement
The authors acknowledge the Govt. of Himachal Pradesh for providing infrastructure, the Govt. of India for providing grant under Nirbhaya fund scheme and the soft genetics to provide the trial version of Gene Marker HID version 3.0.0.
References
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