View Full Version : I need a new genetic disorder variant

05-11-2011, 01:28 AM
Can a genetic disorder that's been around for thousands of years develop a new version?

05-11-2011, 05:59 PM
How different is the new version?

Is this something that will show up in just one person, or many people?

05-11-2011, 06:01 PM
Every individual is distinct and reacts differently to disease. In that sense, you can have all the uniqueness you want. However, if you're giving your genetic disorder a name that's been reported in the literature, then it means that the basic mechanisms causing the disease are the same (for example, a specific mutation in a specific chromosome).

05-11-2011, 06:12 PM
Inbreeding can cause genetic disorders to become more prevalent because of diseases that lie in recessive genes (I don't mean brothers and sisters, it can be second cousins.) If you look at certain countries that have gene traits, like the percentage of blonds or red heads vs. other countries. Evolution tells us that humans can change through centuries. People are taller than they were 500 years ago, for example.

05-11-2011, 06:56 PM
I found this link handy: http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation

Genetic disorders are caused, generally, by mutated genes. So an existing gene has become altered in some way, and functions in an unusual or defective way.

From the link:

Acquired (or somatic) mutations occur in the DNA of individual cells at some time during a person’s life. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if a mistake is made as DNA copies itself during cell division. Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be passed on to the next generation.

I don't know if it's possible, but I wonder if a mutated gene could be mutated further in the manner of the above paragraph? Only problem with that is that it would be an isolated case, not widespread.

05-11-2011, 07:48 PM
I need the situation such that, while most people with it are living at least into their twenties or thirties, in one case the individual doesn't have much hope of living into his teens. I can go with a bizarre complication, so that works just fine. If so, what could that be? Otherwise, I was hoping for a new variant.

More importantly though, I just wanted to know if it at least made any sense that someone with a genetic disorder would die much younger than everyone else who has it.

Kathie Freeman
05-11-2011, 08:35 PM
A mutation can happen at any time during the fertilization of an ovum. That's how these things get started in the first place, so it's not unrealistic for a new permutation to crop up in an individual if the disorder is widespread.

05-11-2011, 10:23 PM
A mutation can happen at any time during the fertilization of an ovum
Or before or after.

05-12-2011, 01:08 AM
Ok then. Thanks everyone.