Passos-Bueno M R, Rapaport D, Love D, Flint T, Bortolini E R, Zatz M, Davies K E
Departamento de Biologia, Universidade de São Paulo, Brazil.
J Med Genet. 1990 Mar;27(3):145-50. doi: 10.1136/jmg.27.3.145.
We have analysed 38 DMD patients from 34 families and 30 BMD patients from 12 families using the cDNA probes Cf23a and Cf56a, which map near the centre of the dystrophin gene, and Cf115, which is close to the 3' end of this gene. Together, probes Cf23a and Cf56a detected deletions in 50% of the DMD families and 33% of the BMD families. Probe Cf115 detected a deletion in only one DMD patient, which has not been reported before in severe X linked myopathy. Most of the DMD deletions could be detected with Cf56a while all four BMD deletions were detected with Cf23a. The pattern of deletions could not be used to predict the precise clinical course of the disease and no correlation was found between the severity of the disease and the extent of the gene deletion. A higher frequency of deletions was observed in sporadic (73%) compared with familial DMD (28%) and BMD cases (33%). This result, if confirmed in a larger sample, would have important implications for genetic counselling.
我们使用了cDNA探针Cf23a和Cf56a（它们定位于肌营养不良蛋白基因的中心附近）以及Cf115（它靠近该基因的3'端），对来自34个家庭的38名杜氏肌营养不良症（DMD）患者和来自12个家庭的30名贝克型肌营养不良症（BMD）患者进行了分析。探针Cf23a和Cf56a共同在50%的DMD家庭和33%的BMD家庭中检测到了缺失。探针Cf115仅在一名DMD患者中检测到了一处缺失，这在严重的X连锁肌病中此前尚未有报道。大多数DMD缺失可用Cf56a检测到，而所有四处BMD缺失均可用Cf23a检测到。缺失模式无法用于预测疾病的确切临床进程，且未发现疾病严重程度与基因缺失范围之间存在相关性。与家族性DMD（28%）和BMD病例（33%）相比，散发性DMD（73%）中观察到更高的缺失频率。如果在更大样本中得到证实，这一结果将对遗传咨询具有重要意义。
