一种检测杜氏肌营养不良症携带者的方法——初步报告。
A method for the detection of carriers of Duchenne muscular dystrophy--a preliminary report.
作者信息
Monckton G, Marusyk H, Pehowich E
出版信息
Am J Hum Genet. 1981 Nov;33(6):978-86.
Abstract
This report of a method to detect carriers of Duchenne muscular dystrophy describes a technique of tissue autoradiography that identifies increased uptake of [(3)H]leucine into some individual muscle fibers in muscle biopsies. Three obligate and seven of 11 sisters of affected boys are identified as carriers in this series. This method of identification may be of value in identifying those carriers undetected by other means, but remains to be further evaluated.
摘要
这份关于检测杜氏肌营养不良症携带者方法的报告描述了一种组织放射自显影技术，该技术可识别肌肉活检中某些单个肌纤维对[³H]亮氨酸摄取的增加。在这个系列中，确定了3名患病男孩的直系亲属和11名患病男孩姐妹中的7名作为携带者。这种识别方法对于识别那些用其他方法未检测到的携带者可能有价值，但仍有待进一步评估。
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