Daniel A, Stewart L, Lam-Po-Tang P R, Beveridge J, Morton J
Hum Genet. 1981;57(1):96-8. doi: 10.1007/BF00271177.
Dexamethasone (DM) resistance was evaluated in fibroblasts from a pool of five patients with cystic fibrosis (CF) homozygotes, ten of their parental obligate heterozygotes, and seventeen age-matched controls of both sexes. The CF heterozygotes showed a mean DM resistance greater than homozygotes and both groups exhibited a higher mean DM resistance at every DM concentration than controls. However, substantial interassay variability rendered these differences in the total pooled data to non-significance. One control showed a consistently increased resistance and was possibly a covert heterozygote. It was concluded that the phenomenon of DM resistance was exhibited by CF heterozygotes and homozygotes but was not discrete enough for genotyping in the prenatal diagnosis of CF.
在来自5名囊性纤维化(CF)纯合子患者、10名其亲代必然杂合子以及17名年龄匹配的男女对照组成的样本库的成纤维细胞中评估了地塞米松(DM)抗性。CF杂合子的平均DM抗性高于纯合子,并且在每个DM浓度下,两组的平均DM抗性均高于对照组。然而,大量的分析间变异性使得合并后的总体数据中的这些差异无统计学意义。一名对照显示抗性持续增加,可能是隐性杂合子。得出的结论是,CF杂合子和纯合子均表现出DM抗性现象,但在CF的产前诊断中,其离散程度不足以用于基因分型。