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DNA Profiling

One way to distinguish one species from another is through the genetic code of molecules

such as deoxyribonucleic acid (DNA). The reproduction process is where mature organisms

transfer their DNA and its instructions to their progeny. When we talk about DNA, we refer to a

self-replicating substance found in virtually all living things and serves as the primary

constituent of chromosomes. It serves as a repository for genetic information. Deoxyribonucleic

Acid (DNA) is an abbreviation for Deoxyribonucleic Acid. Growing, surviving, and reproducing

are all controlled by DNA instructions. Transforming DNA sequences into indicators that can be

used to make proteins, the intricate molecules that execute most of our bodily functions. A gene

is a DNA sequence containing instructions for manufacturing proteins. Human genes can be

1,000 to 1 million bases long. 1% of DNA is the genetic material. Except for 1%, DNA

sequences dictate when, how, and how much protein is made.

DNA profiling is the procedure through which a person's or a sample of body tissue's

distinctive DNA pattern, referred to as a profile, is obtained. DNA profiling is used for: finding

out where a body fluid sample linked to a crime scene came from, revealing the ties that bind a

family and identifying victims in a disaster (Ortiz-Barahona et al.). We are all unique, although

our DNA is remarkably similar to other people’s. However, there are several areas where

people's opinions differ greatly. Polymorphic refers to these regions. Polymorphisms refer to the
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varying patterns of variation found among individuals. Polymorphisms are genetic traits passed

down from one generation to the next. A DNA profile can be created by analyzing DNA

polymorphisms.

Basic history 

Proteins, the complex molecules that perform the bulk of our body operations, are made

from DNA sequences. A gene is a DNA sequence containing instructions for making proteins.

Human genes can be 1,000–1,000,000 bases long. Only 1% of DNA is genetic. Except for 1% of

the time, DNA sequences influence protein production. Given that all maternal relatives have the

same mitochondrial DNA (mtDNA), it is reasonable to expect these samples to have the same

mitochondrial DNA profiles (Heather and Chain). Given that mitochondrial DNA (mtDNA) is

passed down through the mother and multiple people can have the same mitochondrial DNA

type, it is impossible to identify solely on mtDNA. While nuclear DNA analysis may not be

possible in many situations, mitochondrial DNA analysis (mtDNA) is a fantastic option in many

cases.

Mitochondrial DNA Profiling

The mitochondrion contains a unique DNA type. This DNA is distinct from that found in

the nucleus. Little round DNA. It has 16,500 base pairs. It also encodes mitochondrial proteins.

Recall the mitochondrion's energy-producing routes. Mitochondrial DNA creates some of the

enzymes and proteins essential for those mechanisms. Many energy-producing systems within

mitochondria rely significantly on mitochondrial DNA. Mitochondrial illness is defined by an

incapability to make adequate energy in tissues. Unlike nuclear DNA, mitochondrial DNA is
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inherited from the mother. As a result, it can help determine how a family member has a

condition. Sometimes a disease is inherited from the mother rather than both parents. As a result,

a pedigree or family history can reveal if this is a mitochondrial illness. The mitochondrial DNA

team analyzes the hair, bones, and teeth of crime scenes to determine the mtDNA sequence.

Nuclear DNA testing cannot be performed on these materials due to the low levels of damaged

DNA. Because mtDNA analysis is sensitive, even ancient cold case evidence and small

fragments of evidence containing little biological material may be useful to forensic experts.

mtDNA of a missing person can be compared to samples from women who are maternally

connected to the missing individual, (Tully et al,.). Because all maternal relatives share mtDNA,

these samples should be identical. Because mtDNA is inherited from the mother, many people

have the same mtDNA type, so it cannot be used to identify an individual. While nuclear DNA

analysis is not always possible, mtDNA testing is an excellent option.

Single-nucleotide polymorphism Profiling

SNPs are the most common genetic variation found. Simple nucleotide polymorphism

(SNP) is a solitary difference between two people. An SNP occurs when cytosine (C) is replaced

by thymine (T) (T). SNPs are common DNA variations. One in every 1,000 nucleotides,

meaning the human genome includes 4 to 5 million SNPs. To be considered an SNP, it must be

found in at least 1% of the population. Globally, scientists estimate 600 million SNPs. They are

not replacement variations that substitute one nucleotide for another. Substitution variations are

associated with disease and are rare in populations. Less common copy number variants (cnvs)

involve gene duplication or deletion. CVS outnumber SNPs. The most common SNP is located

between genes. They may be used to identify disease-causing genes as biomarkers (Budowle and
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van Daal). SNPs within or close to a gene could have a bigger effect on the sickness by affecting

gene purpose.

Many SNPs have zero outcomes on health and development. Nevertheless, some of these

genetic alterations have been enormously important in human health and disease. Single

nucleotide polymorphisms (SNPs) help predict a person's sensitivity to drugs, susceptibility to

pollutants, and disease risk. The frequency of occurrence of specific SNPs also is used to track

disease-associated genetic variations within families. The search for SNPs linked to complex

diseases, including heart disease, diabetes, and cancer, continues.

Y-Chromosome STR Profiling

They are well-established in criminal investigation and forensics. It is utilized to identify

male sexual assault perpetrators when the victim's DNA is abundant, but the male component is

obscured. It can detect tiny amounts of male DNA from many donors. Compare the generated

genetic profiles to known reference samples,(Roewer). A trace's Y-STR result can be used for

biostatistical computations when the two tests match. The online Y chromosome haplotype

reference database (YHRD) uses discrete Laplace to calculate haplotype frequencies. An

unknown male individual's biogeographical origin can be determined with precision using Y-

SNPs and a robust phylogenetic tree. That is, even in the absence of a suspect, Y-based ancestry

prediction and familial searches can be

Progress of DNA profiling

Beginning with the first forensic DNA RFLP (restriction fragment length polymorphism).

From gel through capillary electrophoresis to NGS (NGS). We use capillary electrophoresis for

forensic analysis. & Jordan Depending on the information, a DNA strand can be typed in many
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ways. But there are many more ways to look at genetic information in DNA samples than just

STR fragment analysis. Assuming NGS works well, it might replace DNA testing. NGS is a

promising new technology that may be used in the future. Identifying suspects from a crime

scene is not adequate in the future. Instead, DNA phenotyping might be used to provide new

descriptions of suspects or unidentified victims. This strategy can remove racial bias in the

criminal justice system by stopping police from chasing the wrong persons. The police have

already used this technology to identify cold case victims.

Work Cited

Budowle, Bruce, and Angela van Daal. "Forensically Relevant SNP Classes". Biotechniques, vol

44, no. 5, 2008, pp. 603-610. Future Science Ltd, https://doi.org/10.2144/000112806.

Accessed 29 Apr 2022.

Heather, James M., and Benjamin Chain. "The Sequence Of Sequencers: The History Of

Sequencing DNA". Genomics, vol 107, no. 1, 2016, pp. 1-8. Elsevier BV,

https://doi.org/10.1016/j.ygeno.2015.11.003. Accessed 29 Apr 2022.

Jordan, Deidra, and DeEtta Mills. "Past, Present, And Future Of DNA Typing For Analyzing

Human And Non-Human Forensic Samples". Frontiers In Ecology And Evolution, vol 9,

2021. Frontiers Media SA, https://doi.org/10.3389/fevo.2021.646130. Accessed 29 Apr

2022.

Ortiz-Barahona, Vanessa et al. "Use Of DNA Methylation Profiling In Translational

Oncology". Seminars In Cancer Biology, 2020. Elsevier BV,

https://doi.org/10.1016/j.semcancer.2020.12.011. Accessed 29 Apr 2022.

Roewer, Lutz. “Y‐Chromosome Short Tandem Repeats in Forensics—Sexing, Profiling, and

Matching Male DNA.” Wires Forensic Science, vol. 1, no. 4, 2019,

https://doi.org/10.1002/wfs2.1336.

Tully, G., et al. "Considerations by the European DNA profiling (EDNAP) group on the working

practices, nomenclature and interpretation of mitochondrial DNA profiles." Forensic

Science International 124.1 (2001): 83-91.