Bieber F R, Hoffman E P, Amos J A
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115.
Am J Hum Genet. 1989 Sep;45(3):362-7.
In this report we describe the use of dystrophin analysis both in the diagnosis of Duchenne muscular dystrophy (DMD) in an aborted fetus and in genetic counseling. Our consultand's initial carrier risk, as based on family history and creatine kinase determinations, was calculated as 0.6%. DNA analysis of her family (and fetus) modified this risk to 8.5%. Skeletal muscle of the 23-wk male abortus was found to be histologically indistinguishable from that of age-matched controls. However, immunoblot testing for dystrophin indicated that the fetus had indeed inherited dystrophin deficiency. The carrier risk of the consultand was thus elevated to 100%. Dystrophin assays should be employed whenever the diagnosis of fetal DMD is equivocal (e.g., cases in which a gene deletion cannot be identified). Assay results are crucial for genetic counseling for subsequent pregnancies and for studies of the early pathogenesis of muscular dystrophy.
在本报告中，我们描述了肌营养不良蛋白分析在诊断流产胎儿的杜氏肌营养不良症（DMD）以及遗传咨询中的应用。根据家族史和肌酸激酶测定，我们咨询对象最初的携带者风险计算为0.6%。对其家族（及胎儿）的DNA分析将该风险修正为8.5%。经组织学检查发现，23周龄男性流产胎儿的骨骼肌与年龄匹配的对照者并无差异。然而，对肌营养不良蛋白的免疫印迹检测表明，该胎儿确实遗传了肌营养不良蛋白缺陷。因此，咨询对象的携带者风险升至100%。每当胎儿DMD的诊断不明确时（例如，无法识别基因缺失的情况），都应进行肌营养不良蛋白检测。检测结果对于后续妊娠的遗传咨询以及肌营养不良症早期发病机制的研究至关重要。
