Different types of DNA tests and their purposes

Different types of DNA tests and their purposes

Deoxyribonucleic acid or otherwise known as DNA is the basic genetic material that differentiates one person from the other and one species from the other. Every single living organism whether small such as bacteria and viruses or large such as human beings and other animals have their specific DNA sequences which gives them their unique characteristics.

DNA is the basic and most unique structural entity of a person’s genome which plays a significant role in a person’s existence and well-being. Specific sequences of the DNA base pairs are what make people unique and different from each other. Body shape, health, mindset and other matter important matters such as the color of the eyes and hair are totally dependent upon the genomic material which is DNA.

DNA is present in every single in an organism’s body and chromosomes are the basic structural units of DNA which are arranged in the form of pairs and are uniquely integrated together for every person. The specific arrangement of these chromosomes determines whether a person is going to be male or a female. DNA is a hereditary material which can also be the cause of many diseases such as sickle-cell pneumonia, diabetes, cancer, heart and brain disorders, etc. These properties are transferred to a person from the ancestral lines for example from a father and mother to their off-springs.

There are tests available that study these specific characteristics of a person’s ancestral line and can determine a lot about that person’s life.

DNA tests

The different DNA tests explore a specific location in a person’s genome and they have gotten widespread acceptability. These tests are done for genealogical purposes and can tell a lot about a person’s ancestors and his own personality.

Types of DNA tests

There are three different types of DNA tests that are performed for different purposes.

  1. Autosomal DNA testing
  2. Y-Chromosome DNA Testing
  3. mtDNA testing

In this context, we are going to take a look at each of the above tests, their procedures and their findings.

Autosomal DNA testing

Autosomal DNA testing means taking a look at the chromosomes pair from 1-22 and X-chromosome. These chromosomes are called autosomal chromosomes and can be important in providing information about a person’s ethnicity and other related matters.


The test is started by taking a DNA sample from the person whose DNA is to be tested. This sample can be taken from any part of the body and does not require and blood sample or any other painful infestation. To take a sample, all you have to is provide the Buccal swab to the service providers and they will proceed it further.

This DNA is sample is used to take a precise look at the autosomal chromosomes which are inherited from both parents, grand and great-grandparents.


The findings of this test can interpret the results for three or more than three generations. This test takes a look at the sample DNA and other DNAs that present in the database. The results are compared and if the two samples show similar structural properties, they are most likely to be relatives. Every person whether male or female receives an X-chromosome from both parents and only fathers can transfer the second X-chromosome and as a result of this chromosome pairing a girl is born.

mtDNA (Mitochondrial) testing

The DNA material present in the Mitochondria, which is an important component of a cell, is known as Mitochondrial DNA. This test is focused on the DNA present in Mitochondria which is transferred from mother to child.


This test is performed by taking a sample in the same way as above and the test is carried out in a different way from the above. Different regions of the mtDNA such as HRV1 and HRV2 are tested and the results are compared with the results of other individuals.


As the mtDNA is transferred from mother to her offspring, this test can provide information about the maternal line. This test is focused on finding the ancestry line and can connect the results to about 50 generations if the genome is matched.

Y-DNA (Y chromosome) testing

This test focuses on the Y chromosome of the human genome and can only tell about the paternal ancestry line of the test taker.


After taking a buccal swab, Y chromosome of the person is tested and different markers such as STRs and SNPs are examined in order to give the final results.


As Y chromosome is inherited from father to son, this test can only tell about the paternal line of a child. This test gives information about the most recent ancestors and can extend to generations in the paternal line.

The DNA testing can be used in a number of ways such as estimating ethnicity, finding ancestors, genealogical research, and in many other crime-related matters.


Hazardous Effects of Mutations in the DNA

DNA structures are naturally and biologically different in different entities making them unique and different from each other. How all the organisms are different from each other and are identical is just because of the symmetrical sequences of DNA. DNA is the molecule of inheritance and information. It stores instructions for a longer period of time. It has enigmatic symmetry stores genetic instructions which move from one generation to another. DNA carries information about the functioning of entity, has control of the behaviors and determines how their physiology would be.

Mutations in DNA

Mutations in DNA can be the reason for severe diseases of heart, cancer, and blood. Major health issues occur due to mutations which occur inside the DNA or in the sequences of DNA. It affects the functioning of DNA and resultantly there are risks of developing diseases.

Type of Mutations

There are three common types of mutations which affect the transmissions of DNA from parents to offspring. The three types are Substitution, Insertion, and Deletion. In Substitution mutation a single nucleotide base is deleted, inserted, or changed from a sequence of RNA and DNA.  Insertion is a mutation in which a base pair is added in the DNA. Similarly, Deletion mutation is a situation in which a base pair is removed from the DNA.


Sickle-cell Anemia

The very first disease that was discovered due to the change in the sequencing of DNA is sickle-cell anemia. It first occurred in the areas of the Mediterranean region and of African; the common thing in this area was that they were affected by malaria. In single mutation, the genes are transmitted but do not affect the health of offspring while if this disease is in both parents then it is transmitted and can affect badly.


Although cancer occurs due to different factors having exposure to ultra-violet rays, or smoking, etc. apart from this, it is also caused and transmitted from generations to generations. This occurs due to the variants known as somatic. These affect cells of the human body other than egg or sperm cells.

Somatic variables

Somatic is not heritable and do not pass on to generations and is caused by the environmental factors cigarette smoke or radiations etc.

Germline variables

Germline variables are found on the cells of egg and sperms and are discovered to be transmitted from generations to generations and cause high risks of cancer in the offspring. Germline is very dangerous variable; it can cause cancers of various types.

Diseases of heart

Telomeres are the minute DNA strand present on the chromosomes; they give predictions about the possible risks of having heart diseases.  The white blood cells or leukocytes are measured and the length of telomeres tells about the risk of heart disease. If the telomeres are larger in size then risks of heart diseases are less but if the length is smaller then the rate of occurrences of diseases also increases.

Brain disorders

Brain disorders, commonly known are Parkinson’s disease and amyotrophic lateral sclerosis (ALS) is the disorders which can affect the brain and functioning of the brain. These are very serious disorders and dangerous as well as no cure for these disorders are found yet.

Precautions and cures

Being the carrier of information, the analysis and the study of DNA and its structure is of vital importance because it could point out the disease that have the potential of getting transmitted from one person to another or one’s off-springs. If anyone has one of the above diseases or any other disease that has a proven risk of transmission then it must be checked immediately and treated at the earliest convenience. Some of the diseases related to DNA cannot be transferred to Off-spring and some remain un-active even if they are transferred. Most of the diseases that get transferred can be treated by different ways it required for the affected person to seek out the possible treatment. Alterations on the DNA can be done to repair and cure the affected DNA.

Mutation in the DNA happens by three processes which are substitution, insertion and deletion of base pairs. Expert scientists have long been working on this field to avoid and cure such mutations and some have been successful. There have been some breakthroughs in this field and a lot are expected in the near future. So, a person is advised to seek out every possible option by consulting to their doctors and other experts in the field under discussion.


DNA and genetic engineering

Where would we be without our present knowledge of DNA? It was first isolated in 1869, but we have only begun to explore and harness its possibilities. And among those possibilities is genetic engineering. Instead of the traditional methods of plant and animal breeding, genetic engineering involves the use of recombinant DNA, which is artificial DNA made by combining sequences that don’t occur naturally.

Genetic engineering has given us many benefits. It has enabled scientists to produce crops that resist diseases better, and aspens that produce less lignin, a complex compound that comes from wood and which has to be removed before the wood can be made into paper; among other things. Some have proposed using engineering to improve the crops for people in undeveloped countries so they get bigger and produce more vitamins.

Two Harvard University scientists have engineered a mouse known by the trade name of OncoMouse, which they used for experiments in research on cancer. Some animal rights activists object to animals being used this way, but animals cannot be said to have rights. Others point out that any conclusions derived from experiments with mice should be approached with caution, because mice are different from humans. Scientists are also using genetically engineered animals to find out what effects genetic changes have on an animal’s characteristics. Transgenetic goats have been created to produce a protein that prevents clotting.

Of course, genetic engineering has produced much controversy, much of it involving questions of ethics. Some writers have predicted that genetically engineered human beings will be made into virtually soulless machines; Aldous Huxley expressed such ideas in his novel ‘Brave New World,’ and discussed the idea further in ‘Brave New World Revisited.’ Others criticize the whole notion as heretical ? in other words, as human beings attempting to play God. Still others feel that there are too many risks involved in tinkering with the natural way of things.

Whatever some people think, there can be no doubt that genetic engineering is a field that will continue to grow. And only God knows what direction that growth will take us in.