H. Teng et al., INCREASED PROPORTION OF EXON-9 ALTERNATIVELY SPLICED CFTR TRANSCRIPTSIN VAS-DEFERENS COMPARED WITH NASAL EPITHELIAL-CELLS, Human molecular genetics, 6(1), 1997, pp. 85-90
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.