希腊囊性纤维化患者中CFTR基因十个外显子的突变分析：鉴定出74.5%的CF等位基因，包括一种新突变。
Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.
作者信息
Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C
机构信息
First Department of Pediatrics, Athens University, St. Sophia's Children's Hospital, Greece.
出版信息
Hum Genet. 1995 Sep;96(3):364-6. doi: 10.1007/BF00210426.
To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (delta F 508, G542X, G551D, 621 + 1 G-->T, N1303K, W1282X) using allele-specific hybridization and, in addition, analyzed exons 4, 5, 7, 8, 10, 11, 17b, 19, 20 and 21 using the method of denaturing gradient gel electrophoresis (DGGE). Six mutations accounted for 65.9% of the CF alleles in Greek patients, of which the delta F 508 mutation had a frequency of 52.7%. A further 15 previously described mutations accounted for another 8.3% CF alleles and one previously undescribed mutation (3272-4A-->G) was found in one chromosome. The W1282X mutation was not detected at all. Thus, so far, we have identified 21 mutations in the CFTR gene in Greek CF patients, accounting for 74.5% of the CF alleles.
为了全面鉴定希腊囊性纤维化（CF）患者CFTR基因的突变情况，我们采用等位基因特异性杂交技术对184例患者进行了6种相对常见突变（ΔF508、G542X、G551D、621 + 1 G→T、N1303K、W1282X）的筛查，此外，还运用变性梯度凝胶电泳（DGGE）方法分析了第4、5、7、8、10、11、17b、19、20和21外显子。在希腊患者中，6种突变占CF等位基因的65.9%，其中ΔF508突变频率为52.7%。另外15种先前报道的突变占CF等位基因的8.3%，并且在一条染色体上发现了一种先前未描述的突变（3272 - 4A→G）。完全未检测到W1282X突变。因此，到目前为止，我们已在希腊CF患者的CFTR基因中鉴定出21种突变，占CF等位基因的74.5%。
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