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Genetic analysis
- Question
- Hello!
After two sweat tests we know, that our daughter suffers from CF.
Today we got the results of the genetic analysis of our daughter. She has the following mutations: c.1647T>G und c.1652G>A
Can anybody tell me something about it? It is also written, that she is "compound heterozygous".
Many thanks! - Answer
- Dear questioner,
we carry two CFTR genes (one from the father and one from the mother).
"Compound heterozygous" means, that the two CFTR genes carry two different mutations.
c.1647T>G is also known as S549R - that means in translation that at the position 549 of the defective CFTR protein there is the amino acid arginin (R) incorporated instead of the amino acid serin (S). This is true for one of the two copies of the CFTR gene.
c.1652G>A is also called G551D translated: there is at the place 551 the amino acid asparagin (D) instead of the amino acid glycin (G). This is on the other copy of the CFTR gene of your daugher.
With my best wishes, especially for your daughter,
Frauke Stanke - 17.02.2015
