土耳其囊性纤维化患者CFTR基因中F508缺失的频率。
Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients.
作者信息
Hundrieser J, Bremer S, Peinemann F, Stuhrmann M, Hoffknecht N, Wulf B, Schmidtke J, Reiss J, Maass G, Tümmler B
机构信息
Abteilung Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany.
出版信息
Hum Genet. 1990 Sep;85(4):409-10. doi: 10.1007/BF02428283.
The F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was found in 8 out of 30 Turkish cystic fibrosis (CF) chromosomes (27%). Five Turkish delta F508 CF chromosomes were associated with the risk haplotype B in KM19 (2 allele)/XV2c (1 allele). In the Turkish population, cystic fibrosis is predominantly caused by mutations other than the F508 deletion.
在30条土耳其囊性纤维化（CF）染色体中，发现8条（占27%）存在囊性纤维化跨膜传导调节因子（CFTR）基因的F508缺失。5条土耳其F508缺失CF染色体与KM19（2个等位基因）/XV2c（1个等位基因）中的风险单倍型B相关。在土耳其人群中，囊性纤维化主要由F508缺失以外的突变引起。
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