| Description: |
Different CFTR genotypes can lead to variation in severity of Cystic Fibrosis manifestations. Length variation at the polythymidine tract (poly-T) in intron 8 has been associated with differences in exon 9 splicing efficiency and, as a result, variation in expression of the disease state. The poly-T tract is also important in male infertility due to congenital bilateral absence of the vas deferens (CBAVD). The poly-T screening test detects the most common poly-T alleles in the general population (5T, 7T, and 9T). |
