杜氏肌营养不良症的携带者检测：评估年龄对血清肌酸激酶活性检测率的影响。

Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity.

作者信息

Nicholson G A, Gardner-Medwin D, Pennington R J, Walton J N

出版信息

Lancet. 1979 Mar 31;1(8118):692-4. doi: 10.1016/s0140-6736(79)91147-4.

Abstract

In 40 known carriers of the gene for Duchenne muscular dystrophy (mean age 38 years) the detection-rate with a standard assay of serum-creatine-kinase was 53%. In 52 daughters of known carriers (mean age 16 years) the detection-rate was 45% after correction of age. This implies a much higher detection-rate (about 90%) in young carriers and suggests that discrimination between carriers and noncarriers may best be achieved by testing in childhood.

摘要

在40名已知的杜氏肌营养不良症基因携带者中（平均年龄38岁），血清肌酸激酶标准检测法的检出率为53%。在52名已知携带者的女儿中（平均年龄16岁），校正年龄后的检出率为45%。这意味着年轻携带者的检出率要高得多（约90%），并表明通过儿童期检测可能最有效地鉴别携带者和非携带者。