When we analyze a specific gene for variation or mutation, we can group those alteration/ variation/ mutation in code as either autosomal or allosomal/ sex chromosome change. Autosomal change can further be broken down into two types, dominant and recessive. For clarity sake, we first must define the term autosomal chromosome and chromosome, in its must simplistic term, autosomal chromosome refers to all other chromosomes besides your sex chromosomes which are your X/ Y chromosome. Chromosomes are your tightly packed DNA of which humans normally contain 23 pairs. I like to think of them as 23 Reserve Banks that contain instructions or better put contain a record of gene/ keep a record. These 23 pairs of chromosomes and the instruction contained within them actually runs the shows with the environment influencing their expression. Now let’s look at an example.
Normally, a person contain two copies of a gene to provide instruction for making a particular molecule, for our example we would call it ‘molecule X’. For the given population, 'molecule X' function normal, meaning both copies has no alternation. When one of those copy is faulty or a better word would be altered, we say that the offspring of those people carrying the gene of 'molecule x' are likely to be a “carrier” of the “altered” molecule X. Carrier do not have the disease because they still have a normal functioning gene with the instruction to make molecule X. However, in the case of autosomal dominant gene mutation, one copy of the altered gene is enough to produce a disease state. When the offspring inherits the altered gene from both parent or “needs to inherit” we say it’s recessive. Recessive scenarios are common within our general population and understanding their implication is important in designing prevention and treatment. For example, Carrier parents have, with each pregnancy, a 1 in 4 (25 percent) chance to have a baby born with molecule X; a 1 in 2 (50 percent) chance to have a child who is a carrier like themselves; and a 1 in 4 (25 percent) chance to have a child who is neither affected nor a carrier. Here is a pedigree chart that illustrate what is explained in words above
Photo Credits: Wikimedia Commons
The above example is just one of the many opportunities of knowing your DNA and how you can equipped yourself and your offspring. What is even more interesting, we now live in an age where we can now target these mutation and treat them accordingly eliminating the unnecessary suffering.
I also reminded you that some alteration/ mutation in code are beneficial, it is important to note that some people are immune to some diseases, and most importantly some of these answers are contained in your/ their DNA. My hope is that I would have captured your attention and invoke the appetite to learn more and get involve in projects that seek to answers some of these questions. It isn't as difficult as you may think, everyone can do it, with sufficient interest and sequence DNA sample in-front of you and algorithms at your disposal, everything is possible. What if I told you, with blockchain technology building a platform and community to address points lay out are already off the ground and quickly moving ahead. If this is something that interest you, now is probably a good time to look into the EDNA Project. The team has an ambitious plan of connecting you with like minded people and taking this to the next level.