Qureshi A R, Punnett H H
J Pediatr. 1985 Jun;106(6):913-7. doi: 10.1016/s0022-3476(85)80236-5.
We evaluated four methods purported to distinguish between individuals homozygous or heterozygous for cystic fibrosis (CF) and normal controls: (1) detection of a protein in the serum by isoelectric focusing at pH 8.5, (2) detection of a lectinlike factor in the serum by hemagglutination, (3) isolation of CF-lectin from the serum by affinity chromatography, and (4) measurement of MUGB-reactive proteases in the plasma. The results were disappointing. The detection of CF protein by isoelectric focusing was unreliable; it could be identified in only 46% of heterozygotes and 66% of homozygotes, with a false positive rate of 17%. Detection of a lectinlike factor by hemagglutination was also found to be unreliable and irreproducible. The lectin isolated by affinity chromatography was not specific for the CF gene. No significant differences were found in the MUGB titers of the three populations tested. However, low titers (MU less than 200 nmol/ml) were found in 33% of homozygotes and heterozygotes and in 17% of normal controls. We conclude that none of these methods is suitable for carrier detection in cystic fibrosis.
我们评估了四种据称可区分囊性纤维化（CF）纯合子或杂合子个体与正常对照的方法：（1）通过在pH 8.5条件下进行等电聚焦检测血清中的一种蛋白质；（2）通过血凝反应检测血清中的一种类凝集素因子；（3）通过亲和层析从血清中分离CF-凝集素；（4）测量血浆中MUGB反应性蛋白酶。结果令人失望。通过等电聚焦检测CF蛋白不可靠；仅在46%的杂合子和66%的纯合子中可检测到，假阳性率为17%。通过血凝反应检测类凝集素因子也不可靠且无法重复。通过亲和层析分离的凝集素对CF基因不具有特异性。在所检测的三个群体的MUGB滴度中未发现显著差异。然而，在33%的纯合子和杂合子以及17%的正常对照中发现低滴度（MU小于200 nmol/ml）。我们得出结论，这些方法均不适用于囊性纤维化的携带者检测。
