[ΔF508基因缺失在囊性纤维化中的诊断价值]
[Diagnostic value of the deletion of the delta F508 gene in cystic fibrosis].
作者信息
Fernández García E, Nunes Martínez V, Ibáñez Olias M A, Benítez Ortíz J
机构信息
Departamento de Genética, Fundación Jiménez Díaz, Madrid.
出版信息
An Esp Pediatr. 1991 Nov;35(5):307-8.
PMID:1785742
Abstract
We have studied 70 carrier cystic fibrosis (CF) families with delta F508 mutation using the polymerase chain reaction (P.C.R.). We found that frequency of the mutation in CF chromosomes was 53%. 39% of carrier cystic fibrosis families were informative for the mutation.
摘要
我们使用聚合酶链反应（PCR）研究了70个携带ΔF508突变的囊性纤维化（CF）家族。我们发现CF染色体中该突变的频率为53%。39%的携带囊性纤维化的家族该突变具有信息性。
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