Friday, March 12, 2010

Connexin 26-related sensorineural hearing loss

1. Between 1 and 3 out of every 1000 children born have some type of hearing loss. Nonsyndromic sensorineural hearing loss (NSHL) due to genetic causes can be caused by mutations in many different genes, including GJB2. 23andMe reports data for two GJB2 mutations — 35delG and 167delT.This gene encodes a protein called connexin 26. mutations in GJB2 is present from birth but can vary in severity, from moderate to profound. Nonsyndromic accounts for 70% of all genetic cases.More than 90 mutations that can lead to deafness come from the gene GJB2. Mutations reported by 23 and me is inherited in a ressesive manner.Even if your data indicate you are not a carrier you may still have a mutation (in GJB2 or another gene) or be affected by NSHL.


2.There can be both benefits and consequences/concerns that can come from personal genetic testing. One benefit of the testing can be you learning what you are at risk for and then being able to take the nessecary precautions, one being maybe if you kno that you are a carrier of a gene that would really affect a child then you can make sure that you dont have a child with a mate that carries the same trait. A concern that can come from getting genetic personal testing done is that some people may become depressed or angry from their result because they may find out that they will develope a diease that leads to a really hard life to live.

3. If I could undergo personal genetic testing from 23and me for free I still would not get it done.I wouldn't get the testing done because I feel like there is not a lot I can do if I were to find something out and im not sure how I would take bad news, so I will stay away from the testing.

2 comments:

  1. I am totally agree with you. I wouln't want to find out my sicknesses or diseases which I might have in the future. It will make me think about it everyday and wait until this sickness or disease starts. So as I live a healthy life right now, it makes me happy.

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  2. Oh, really?? I completely agree with you because some people cannot handle the fact that they might have bad genes or do not have a longer life span than they thought. It is also interesting to know that between one to three children out of a thousand experience hearing loss. Great post!!

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