Storm Katrien, Moens Els, Vits Lieve, De Vlieger Haike, Delaere Gino, D'Hollander Maria, Wuyts Wim, Biervliet Martine, Van Schil Lutgardis, Desager Kristine, Nöthen Markus M
Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium.
J Cyst Fibros. 2007 Nov 30;6(6):371-5. doi: 10.1016/j.jcf.2006.10.013. Epub 2007 May 3.
We have analyzed 143 unrelated Belgian patients with a positive diagnosis of cystic fibrosis (CF) for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. An initial screening for 29 CFTR mutations led to mutation identification in 89.9% of the tested chromosomes. Subsequently an extensive analysis of the CFTR gene was performed by denaturating gradient gel electrophoresis (DGGE) in those patients with at least one unknown mutation after preliminary screening. In addition to 10 previously reported mutations we identified 2 new mutations 186-2A-->G and E588V. A third new mutation 1671insTATCA was identified during routine screening for DeltaF508. Two mutations were detected with a higher frequency than expected: 3272-26A-->G, which is the second most common mutation after DeltaF508 in our CF population with a frequency of 3.8%, and L927P (2.4%). The clinical data is presented for the mutations 186-2A-->G, E588V, 3272-26A-->G and L927P. The mutation data are useful for the Belgian population to supplement the initial screening set of mutations.
我们分析了143名确诊为囊性纤维化（CF）的不相关比利时患者的囊性纤维化跨膜传导调节因子（CFTR）基因突变情况。对29种CFTR突变进行初步筛查，在89.9%的检测染色体中发现了突变。随后，对初步筛查后至少有一个未知突变的患者，通过变性梯度凝胶电泳（DGGE）对CFTR基因进行了广泛分析。除了10种先前报道的突变外，我们还发现了2种新突变：186 - 2A→G和E588V。在对ΔF508进行常规筛查时发现了第三种新突变1671insTATCA。检测到两种突变的频率高于预期：3272 - 26A→G，在我们的CF患者群体中是仅次于ΔF508的第二常见突变，频率为3.8%；以及L927P（2.4%）。本文给出了186 - 2A→G、E588V、3272 - 26A→G和L927P这几种突变的临床数据。这些突变数据对比利时人群补充初始突变筛查集很有用。
