Coutelle C, Brückner R, Grade K, Behrens F, Gedschold J, Hein J, Szibor R, Bauer I, Brock J, Graupner I
Max-Delbrück-Center for Molecular Medicine Berlin-Buch, Germany.
Hum Mutat. 1992;1(2):109-12. doi: 10.1002/humu.1380010205.
A representative multicenter cystic fibrosis (CF) mutation analysis on about half of all known cystic fibrosis patients of the 5 East German Länder is reported. Analyses for 17 mutations, among them Delta F508, R553X, G542X, S549R,N,I, G551D, S1255X, R347P,H, and Y122X, were performed. As expected, the delta F508 mutation in exon 10 of the CFTR gene is the major gene alteration causing CF in our patients. However, in comparison to studies from Western Germany, a significantly lower percentage of just over 60% is found in our patients, resembling data obtained from slavonic populations. The severe phenotype of cystic fibrosis is most frequently associated with homozygosity for the delta F508 mutation. No particular allele association could be found with the intermediate and mild phenotypes of this disease. The next most frequent of the investigated mutations is R553X (13.3% of non-delta F chromosomes) followed by R347P (9.2%) and G542X (4.4%).
报道了一项对东德5个州约一半已知囊性纤维化（CF）患者进行的具有代表性的多中心CF突变分析。对17种突变进行了分析，其中包括ΔF508、R553X、G542X、S549R、N、I、G551D、S1255X、R347P、H和Y122X。正如预期的那样，CFTR基因第10外显子中的ΔF508突变是导致我们患者患CF的主要基因改变。然而，与西德的研究相比，我们的患者中该突变的比例明显较低，略高于60%，这与斯拉夫人群的数据相似。囊性纤维化的严重表型最常与ΔF508突变的纯合性相关。在该疾病的中间型和轻型表型中未发现特定的等位基因关联。其次最常见的被研究突变是R553X（占非ΔF染色体的13.3%），其次是R347P（9.2%）和G542X（4.4%）。
