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Genotype 7T/9T & 10TG/11TG

Otázka
I am 14 weeks pregnant and I was tested for 99.6% of the CF mutations. No pathological mutation was detected, but the answer wrote "Genotype 7T/9T & 10TG/11TG".
Is this something I should worry about? Thank you!
Odpověď
Dear friend, you are 14 weeks pregnant and you were checked for the largest possible number of CF mutations. There was no pathological mutation detected, but the answer referred to 7T/9T and 10 TG/11TG.
The CF mutations are created by the replacement, or the loss of an aminoacid. These mutations have an effect on the production of the CFTR protein, or on its function. In front of exon 9 there are the poly T(n) and T(g) regions. In the T(n) regions three alleles are found, T5, T7 and T9. Each one of these alleles (T5, T7, T9) can be combined with TG11, TG12 or TG13. The number of T and TG repetitions inside the same polymorphic locus can affect the degree of the splicing and resynthesis of exon 9. A small number of T(n) and a large number of TG(n) repetititions will result in less effective splicing and resynthesis, which means that less CFTR protein will be produced. There is clinical significance when a T5/TG12, or a T5/TG13 is together with a typical CF mutation. If this happens, then the person may have mild CF, or CFTR related disease.
You do not belong in this category, and you have nothing to worry about, because you have a large number of T(n) and a small number of TG(n).
Yours friendly,
Dr. Stavros Doudounakis
20.07.2018