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Genotype T5/T7 and TG11/TG12

Ερώτηση
I am pregnant and my spouse was found to carry the genotype 5T/7T and TG11/TG12 in the T and TG polymorphic CFTR regions (heterozygote for T5-TG12 allilomorph. I ams going to get tested as well. Should I be concernded? What are the chances? Thank you.
Απάντηση
Dear friend,
Apart from the known CF mutations that are created through the transposition of an aminoacid and that affect the production and function of the CFTR protein, there are two polymorphic regions, in front of the exon 9, the T(n) and the T(g) tract. In the T(n) region three alleles can be detected, with a respective length of T5, T7 and T9.
Each one of the T5, T7 or T9 can be combined with Tg11, Tg12 or Tg13.
The number of T and Tg repetitions inside the same polymorphic location may affect the extent of the splicing and reconnecting at exon 9. A small number of Tn and a large number of Tg repetitions will result in less effective splicing and reconnecting, therefore in less production of effective CFTR protein.
This is clinically significant when one T5/Tg12, or one T5/Tg13 is found together with a typical CF mutation, so a CFTR related disease, or a mild CF may manifest.
A T5/Tg11 gene is rather improbable to cause CF.
Is special interest is the R1117H mutation, when a T5 coexists in the same chromosome, and it is combined, in heterozytoge, with another typical CF mutation. The result will be CF with pancreatic sufficiency. When R117H coexists with a T7 in the same chromosome, and is combined with a typical CF mutation in the other chromosome, then a mild form of CF may manifest, or CBAVD in males, or no CF (Castellani 2008). For this reason the T5 are tested for disease prevention only in the presence of R117H mutation, or in the investigation of male sterility.
Dear friend, you await the results of your testing. If the fetus carries the combination T5/Tg12, it will not manifest a typical form of the disease.
Yours friendly,
Dr. Stavros Doudounakis

22.06.2018