Heterozygote?

Question

Hello,

What does heterozygote mean? The values of my niece are: 3849 + 10 KgC-T Heterozygote und de IS 508 Heterozygote. What do these values mean and with which degree of CF one has to face?
My sister is supposed to deliver at the end of May; can she deliver in a simple cottage hospital with these values?

Thank you for your reply.

Answer

Hello,

First of all, the meaning of " heterozygote": This means in general that the genetic information from both genes of a human being are different; especially with regards to Cystic Fibrosis this means that the CFTR-gene does not exist in the same mutation but in two different genetic forms. Furthermore, it can be differentiated between the common heterozygosity (one healthy, one deviant gene) and the finding of a compound-heterozygosity where both genes are mutated, but in a different manner.

This is the kind of information that can be provided over the internet, whereas an individual advice regarding the result of the genetic analysis is not possible. This always requires a very extensive conversation (human genetics consulation), and this should be done in case of your niece – maybe with your support.

If there will be the need to talk to a CF-genetics-specialist in addition to that, we could certainly help by providing a contact.

Best regards,
Prof. Dr. TOF Wagner

08.07.2008