利用聚合酶链反应（PCR）测定巴西囊性纤维化患者中ΔF508突变的频率。
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients.
作者信息
de Miranda A B, Llerena Júnior J, Dallalana L T, Moura-Neto R S, Suffys P N, Degrave W M
机构信息
Instituto Oswaldo Cruz, Departamento de Bioquímica e Biologia Molecular, Rio de Janeiro, Brasil.
出版信息
Mem Inst Oswaldo Cruz. 1993 Apr-Jun;88(2):309-12. doi: 10.1590/s0074-02761993000200022.
The delta F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion.
通过聚合酶链反应（PCR）和寡核苷酸差异杂交技术，对18名巴西囊性纤维化（CF）患者及其17个家庭进行了CF基因突变研究。在总共34条染色体中，12条（35%）携带F508缺失突变，这一频率远低于大多数其他人群的报道。因此，巴西的CF主要由不同于F508缺失的突变引起。
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