What is DNA testing?

DNA testing is a method of identifying individuals through the analysis of genetic information. Human genes contain unique patterns that can be used to identify each individual, and DNA testing uses this genetic information for a variety of purposes , such as confirming parent-child relationships, identifying perpetrators in criminal investigations and investigating individual genetic trends.

  1. DNA identification in forensic science
  2. In forensic science, DNA identification is one of the key methods in criminal investigations. DNA is extracted from biological evidence (e.g. blood, hair, saliva, semen) found at a crime scene and compared with the DNA of a suspect to see if it is a match. Since its introduction into forensic science in the 1980s, this method has often been decisive evidence in criminal investigations and has made a significant contribution to solving crimes, particularly sex crimes and murder cases. DNA identification in forensic science
    In forensic science, DNA identification is one of the key methods in criminal investigations. DNA is extracted from biological evidence (e.g. blood, hair, saliva, semen) found at a crime scene and compared with the DNA of a suspect to see if it is a match. Since its introduction into forensic science in the 1980s, this method has often been decisive evidence in criminal investigations and has made a significant contribution to solving crimes, particularly sex crimes and murder cases.

DNA testing procedures:
Evidence collection: blood, hair, skin fragments and body fluids found at crime scenes are collected, stored and transported. Evidence is handled with great care and specialized methods are used to prevent contamination. DNA testing procedures:
Evidence collection: blood, hair, skin fragments and body fluids found at crime scenes are collected, stored and transported. Evidence is handled with great care and specialized methods are used to prevent contamination.

DNA extraction: DNA is extracted from biological samples taken by chemical processing. This process degrades cell membranes and proteins and isolates DNA.

Amplification of DNA (PCR): even with small samples, DNA can be amplified using a technique called polymerase chain reaction (PCR).This ensures that sufficient quantities of DNA can be obtained from even the smallest DNA samples.

DNA profiling: analyses amplified DNA to analyze the sequence of specific sites called STRs (short-strand repeat sequences ), which vary between individuals and can be compared to identify individuals.

Match and compare: matches DNA profiles from the crime scene with those of suspects and victims.The match provides strong evidence for identification of the perpetrator if a match is found, and can exclude suspects in case of a mismatch.

Applications and limitations:
Applications: DNA analysis to identify perpetrators from evidence left at the scene of sex crimes, murders and robberies. Increasingly, past evidence is also being re-analyzed to clear false convictions and free innocent people.
Limitations: sample contamination at the scene and mixed samples of DNA from multiple people can make analysis difficult. Also, although DNA evidence is powerful, it does not establish the culprit on its own, but in combination with other evidence. Applications and limitations:
Applications: DNA analysis to identify perpetrators from evidence left at the scene of sex crimes, murders and robberies. Increasingly, past evidence is also being re-analyzed to clear false convictions and free innocent people.
Limitations: sample contamination at the scene and mixed samples of DNA from multiple people can make analysis difficult. Also, although DNA evidence is powerful, it does not establish the culprit on its own, but in combination with other evidence.

  1. DNA analysis in paternity testing
  2. Paternity testing is an analytical method that uses DNA to prove biological parent-child relationships. It is used particularly in legal matters (e.g. child support, inheritance issues) and for personal reasons (e.g. misidentification at birth, adoption, etc.) As DNA is passed on from parent to child, comparing the DNA of the child and the presumed parent can scientifically prove whether a parent-child relationship exists. DNA analysis in paternity testing
    Paternity testing is an analytical method that uses DNA to prove biological parent-child relationships. It is used particularly in legal matters (e.g. child support, inheritance issues) and for personal reasons (e.g. misidentification at birth, adoption, etc.) As DNA is passed on from parent to child, comparing the DNA of the child and the presumed parent can scientifically prove whether a parent-child relationship exists.

Paternity testing procedure:
Sample collection: paternity testing usually requires DNA samples from both the parent and the child. Samples are usually taken from saliva or cells using an oral swab, but DNA can also be extracted from blood or hair. Paternity testing procedure:
Sample collection: paternity testing usually requires DNA samples from both the parent and the child. Samples are usually taken from saliva or cells using an oral swab, but DNA can also be extracted from blood or hair.

DNA extraction: extracts DNA from the sample into a form that can be analyzed; no special processes are required as DNA can be obtained from any cell.

DNA profiling: paternity testing uses STR analysis to compare specific regions of DNA (markers).Typically, 15-20 markers are analyzed to identify the genetic information that parents and children have in common. As children inherit half their genes from their father and half from their mother, a biological parent-child relationship is proven if the markers are matched.

Statistical evaluation: the probability of a parent-child relationship is calculated based on the degree of concordance of the DNA markers.Usually, if a parent-child relationship exists, there is a probability of at least 99.9% that a relationship exists.On the other hand, if there is no relationship, the probability is 0%.

Applications and limitations:
Applications: used to prove parent-child relationships in legal proceedings such as child support, inheritance and family reunification in immigration cases. It can also be useful in the search for missing persons and for identification in the event of a disaster.
Limitations: in exceptional cases, DNA between close relatives (e.g. siblings or cousins) can be very similar and can be misleading. Applications and limitations:
Applications: used to prove parent-child relationships in legal proceedings such as child support, inheritance and family reunification in immigration cases. It can also be useful in the search for missing persons and for identification in the event of a disaster.
Limitations: in exceptional cases, DNA between close relatives (e.g. siblings or cousins) can be very similar and can be misleading.

  1. DNA analysis in screening for genetic diseases
  2. Screening for genetic diseases is a method of analyzing an individual’s DNA to assess their risk of genetic disease. Genes may contain mutations associated with certain diseases, and knowing this in advance can enable preventive treatment and lifestyle modifications. Screening is often done for people who have a family history of genetic disease or who are at high risk of a particular disease. DNA analysis in screening for genetic diseases
    Screening for genetic diseases is a method of analyzing an individual’s DNA to assess their risk of genetic disease. Genes may contain mutations associated with certain diseases, and knowing this in advance can enable preventive treatment and lifestyle modifications. Screening is often done for people who have a family history of genetic disease or who are at high risk of a particular disease.

Genetic disease screening procedures:
Sample collection: DNA is usually extracted from blood or saliva. Screening for specific diseases involves targeting specific genes or mutations. Genetic disease screening procedures:
Sample collection: DNA is usually extracted from blood or saliva. Screening for specific diseases involves targeting specific genes or mutations.

DNA analysis: genetic analysis detects specific genetic mutations or chromosomal abnormalities associated with a disease. For example, mutations in the genes BRCA1 and BRCA2 are known to increase the risk of breast and ovarian cancer.

Interpretation of results and counselling: based on the screening results, genetic counselling is provided to assess risk and suggest preventive measures. For example, if the risk is high, regular testing and preventive treatment may be recommended.

Applications and limitations:
Applications: risk assessment for familial cancer, heart disease, Alzheimer’s disease, etc. It is also used in prenatal screening before and during pregnancy to assess the risk of the fetus having a genetic disease.
Limitations: a known high genetic risk does not necessarily mean that a person will develop the disease. Genetics alone does not determine everything, as environmental factors and lifestyle also play a role in the development of the disease. Applications and limitations:
Applications: risk assessment for familial cancer, heart disease, Alzheimer’s disease, etc. It is also used in prenatal screening before and during pregnancy to assess the risk of the fetus having a genetic disease.
Limitations: a known high genetic risk does not necessarily mean that a person will develop the disease. Genetics alone does not determine everything, as environmental factors and lifestyle also play a role in the development of the disease.

DNA identification targets specific DNA regions (markers) and analyses the genetic sequence of those regions. This provides a detailed picture of an individual ‘s genetic differences and enables personal identification with a very high degree of accuracy. The technology continues to evolve scientifically and new methods continue to be developed to provide faster and more accurate information.

Supervisor of the article


Dr. Hiroshi Oka

Director of CAP Laboratory

Graduated from Keio University, Faculty of Medicine

Doctor of Medicine

Medical Doctor