杜氏肌营养不良症携带者的检测。肌酸激酶检测的质量控制。

Detection of carriers for Duchenne muscular dystrophy. Quality control of creatine kinase assay.

作者信息

Plauchu H, Junien C, Maire I, Said R, Gozlan R, Lalouel J M

出版信息

Hum Genet. 1982;61(3):205-9. doi: 10.1007/BF00296443.

Abstract

A report by Bullock and coworkers has emphasized the need for standardization of the CK assay in carrier detection for DMD. A collaborative study, according to a well-specified design and involving two laboratories in Paris and Lyon, indicates that the reliability of this assay can be improved provided that special attention is paid to information about participating subjects, laboratory protocol, and repeated sampling. On a random sample of young women, mean and variance of ln(CK) are 1.66 and 0.015 respectively. Within and between variance components are in a 3:4 ratio, homogeneous between populations. Additional use of a common test serum should insure good reliability of this assay among laboratories.

摘要

布洛克及其同事的一份报告强调了在杜氏肌营养不良症（DMD）携带者检测中标准化肌酸激酶（CK）检测方法的必要性。一项按照明确设计进行、涉及巴黎和里昂两个实验室的合作研究表明，只要特别关注参与检测对象的信息、实验室操作流程以及重复采样，该检测方法的可靠性就能得到提高。在一组随机抽取的年轻女性样本中，ln(CK)的均值和方差分别为1.66和0.015。组内和组间方差成分的比例为3:4，不同人群之间具有同质性。额外使用一种通用检测血清应能确保该检测方法在各实验室间具有良好的可靠性。