Teng H, Jorissen M, Van Poppel H, Legius E, Cassiman J J, Cuppens H
Center for Human Genetics, University of Leuven, Belgium.
Hum Mol Genet. 1997 Jan;6(1):85-90. doi: 10.1093/hmg/6.1.85.
CFTR transcripts have been qualitatively and quantitatively analysed in nasal epithelial and vas deferens cells by means of reverse transcription PCR. Alternative splicing of exon 9, which is known to occur in nasal epithelial cells, also occurred in vas deferens cells. The extent 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 proportion of transcripts lacking exon 9 sequences was increased in vas deferens cells compared with nasal epithelial cells, independent of the Tn genotype. We postulate that this tissue specific difference in the proportion of CFTR transcripts lacking exon 9 sequences could contribute to the tissue specific disease phenotype observed in individuals with congenital bilateral absence of the vas deferens.
通过逆转录聚合酶链反应对鼻上皮细胞和输精管细胞中的CFTR转录本进行了定性和定量分析。已知外显子9的可变剪接发生在鼻上皮细胞中，在输精管细胞中也有发生。这种可变剪接的程度由CFTR基因内含子8末端Tn位点处的等位基因决定。然而，与鼻上皮细胞相比，输精管细胞中缺乏外显子9序列的转录本比例增加，且与Tn基因型无关。我们推测，CFTR转录本中缺乏外显子9序列的比例存在这种组织特异性差异，可能导致先天性双侧输精管缺如个体中观察到的组织特异性疾病表型。
