Cryos International–DonorID QADIR
The Federal Office for Safety in Health Care was notified by the DanishDanish authority that this from the Danish tissue bank Cryos International (DK257551) about the disease of the donor with the donor ID QADIR was.In the course of DNA analysis of the donor, a heterozygous variant at theCFTR-gene (NM_000492.3:c.1046C>T.p.Ala349Val)was detectedwhich means that the donor is a heterozygous carrier for the heterozygous carrier for Zystic fibrosis.
Cystic fibrosis primarily affects the Respiratory-and digestive systems. The disease isautosomal recessive inheritance.
The specific variant that was identified in the named donor,has in functional assays between 25% and 75% wild-type-CFTR functions and should be compatible with nicht-classicer cysticr Fibrose-Symptomatik, which, among other things, can lead to to Angenesis of the vas deferens, bronchiectasis and Pankreatitis can lead.
The risk assessment submitted includes the following information:
The speciThe specimen carries a heterozygous, probablyexpected pathogenic Mutation in the CFTR-gene. This means, the the risk of having a child with cystic fibrosis ism is higher, if the recipient also carries a pathogenic mutation of the CFTR geneis 25%..
The carrier frequency for cycystic fibrosis varies in the different populations, in the Caucasian Population the carrier frequency is ofsible to bei1/25.
