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通过判别分析,利用血清丙酮酸激酶(PK)和肌酸磷酸激酶(CPK)联合检测杜氏肌营养不良症的携带者。

The use of concomitant serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) for carrier detection in Duchenne's muscular dystrophy through discriminant analysis.

作者信息

Zatz M, Otto P A

出版信息

J Neurol Sci. 1980 Sep;47(3):411-7. doi: 10.1016/0022-510x(80)90094-5.

Abstract

Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) determinations have been carried out in a sample of 30 obligate carriers for the DMD gene and 50 normal adult control females. In all the subjects under study blood samples have been collected 3 times on 3 independent occasions and the means of these 3 determinations were considered for both CPK and PK activities in the statistical analysis. Discriminant analysis has shown that in the group of 30 obligate carriers the estimated proportions of misclassification using either serum CPK, PK or both enzymes were fourn to be: 10/30 (33.3%) for CPK alone, 6/30 (20%) for PK alone and 5/30 (16.6%) for both enzymes. It is concluded that although a small proportion of carriers still remain undetected the concomitant use of PK and CPK determinations enhances the capability of detecting carriers for the Duchenne gene mainly when compared with CPK alone.

摘要

对30名杜氏肌营养不良症(DMD)基因的 obligate携带者和50名正常成年对照女性进行了血清丙酮酸激酶(PK)和肌酸磷酸激酶(CPK)测定。在所有研究对象中,在3个独立的时间点采集了3次血样,在统计分析中,将这3次测定的平均值用于CPK和PK活性分析。判别分析表明,在30名 obligate携带者组中,单独使用血清CPK、PK或两种酶进行误分类的估计比例分别为:仅CPK为10/30(33.3%),仅PK为6/30(20%),两种酶均为5/30(16.6%)。结论是,虽然仍有一小部分携带者未被检测到,但与单独使用CPK相比,同时使用PK和CPK测定可提高检测杜氏基因携带者的能力。

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