Zielenski J, Markiewicz D, Chen H S, Schappert K, Seller A, Durie P, Corey M, Tsui L C
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Hum Mutat. 1995;5(1):43-7. doi: 10.1002/humu.1380050106.
Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All these mutations are probably rare in the population, as no additional examples were found for any of them in a cohort of 545 CF patients. Our study also revealed a benign sequence variation (3499 + 45T-->C) in intron 17b.
在CFTR基因中已鉴定出六个新突变。这些突变代表三种不同类型——错义突变（R31L、W1098R）、无义突变（E1104X）和移码突变（441delA、681delC、1461ins4），它们位于该基因的第2、4、5、9和17b外显子中，推测会导致患者患囊性纤维化（CF）。所有这些突变在人群中可能都很罕见，因为在一组545名CF患者中未发现其中任何一种突变的其他实例。我们的研究还揭示了第17b内含子中的一个良性序列变异（3499 + 45T→C）。
