INCREASED PROPORTION OF EXON-9 ALTERNATIVELY SPLICED CFTR TRANSCRIPTSIN VAS-DEFERENS COMPARED WITH NASAL EPITHELIAL-CELLS

CFTR transcripts have been qualitatively and quantitatively analysed i n nasal epithelial and vas deferens cells by means of reverse transcri ption PCR. Alternative splicing of exon 9, which is known to occur in nasal epithelial cells, also occurred in vas deferens cells. The exten t of this alternative splicing was determined by the allele present at the Tn locus at the end of intron 8 of the CFTR gene. However, the pr oportion of transcripts lacking exon 9 sequences was increased in vas deferens cells compared with nasal epithelial cells, independent of th e Tn genotype. We postulate that this tissue specific difference in th e proportion of CFTR transcripts lacking exon 9 sequences could contri bute to the tissue specific disease phenotype observed in individuals with congenital bilateral absence of the vas deferens.