Forrest S M, Smith T J, Cross G S, Read A P, Thomas N S, Mountford R C, Harper P S, Geirsson R T, Davies K E
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford.
Lancet. 1987 Dec 5;2(8571):1294-7. doi: 10.1016/s0140-6736(87)91192-5.
Deletions in the gene sequence for Duchenne (DMD) and Becker (BMD) muscular dystrophy were detected in affected males with four cDNA probes, Cf56a, Cf23a, Ca1A, and Cf27. Most of the deletions were seen with only one of the probes. Cf23a detected all BMD deletions seen with Cf56a and some that were not. The same markers also detected restriction fragment length polymorphisms for those cases where deletions were not evident. The probes were also used successfully for prenatal diagnosis in two families each with two DMD affected males. In DMD families successive application of probes Cf56a, Ca1A, and Cf27 will give a 70% chance of detecting the mutation. BMD families should first be screened with the Cf23a probe.
利用四种cDNA探针Cf56a、Cf23a、Ca1A和Cf27,在患有杜兴氏(DMD)和贝克氏(BMD)肌营养不良症的男性患者中检测到基因序列缺失。大多数缺失仅在其中一种探针检测时可见。Cf23a检测到了Cf56a所检测到的所有BMD缺失以及一些Cf56a未检测到的缺失。对于缺失不明显的病例,相同的标记物还检测到了限制性片段长度多态性。这些探针还成功用于两个家庭的产前诊断,每个家庭有两名患有DMD的男性。在DMD家庭中,依次应用探针Cf56a、Ca1A和Cf27有70%的机会检测到突变。BMD家庭应首先用Cf23a探针进行筛查。