南斯拉夫囊性纤维化患者中F508缺失以及G551D、R553X和G542X突变的发生率
Frequency of the delta F508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients.
作者信息
Dabović B B, Radojković D, Minić P, Savić J, Savić A
机构信息
Institute of Molecular Genetics and Genetic Engineering, Belgrade, Yugoslavia.
出版信息
Hum Genet. 1992 Mar;88(6):699-700. doi: 10.1007/BF02265302.
A study was undertaken to find the frequency of the delta F508 deletion and those of the G551D, R553X and G524X mutations among the mainly Slavic population of Serbia, Bosnia, Herzegovina, and Montenegro and compare the frequencies determined with those in other European populations. The delta F508 mutation was found to account for about 70% of CF genes in central Jugoslavia, where its frequency is significantly higher than elsewhere in Southern European populations.
开展了一项研究，以确定塞尔维亚、波斯尼亚、黑塞哥维那和黑山主要斯拉夫族人群中ΔF508缺失以及G551D、R553X和G524X突变的频率，并将所确定的频率与其他欧洲人群的频率进行比较。结果发现，ΔF508突变约占南斯拉夫中部CF基因的70%，其频率显著高于南欧其他地区人群。
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