Thomas N S, Ray P N, Worton R G, Harper P S
J Med Genet. 1986 Dec;23(6):509-15. doi: 10.1136/jmg.23.6.509.
Study of 165 unrelated patients with X linked muscular dystrophy (117 with Duchenne and 48 with Becker dystrophy) has shown nine Duchenne cases (8% of the total) where a molecular deletion was detected using probes pERT87 or XJ1.1. No cytogenetic abnormalities were detectable in this unselected series of patients and no clear clinical or other differences were found between deletion and non-deletion cases. No deletions were found in the 48 Becker patients. Analysis of the families allowed unequivocal identification carrier status in females hemizygous for the deleted allele. Since some of the deletions were detected with only one of the two probes, it is important that both pERT87 and XJ1.1 are used when studying patients for molecular deletions.
对165例无亲缘关系的X连锁肌营养不良患者（117例杜氏肌营养不良患者和48例贝克肌营养不良患者）的研究表明，使用pERT87或XJ1.1探针检测到9例杜氏肌营养不良病例（占总数的8%）存在分子缺失。在这组未经挑选的患者中未检测到细胞遗传学异常，且缺失病例与非缺失病例之间未发现明显的临床或其他差异。48例贝克肌营养不良患者中未发现缺失。对这些家族的分析使得能够明确鉴定出携带缺失等位基因的半合子女性的携带者状态。由于部分缺失仅用两种探针中的一种就能检测到，因此在研究患者的分子缺失时同时使用pERT87和XJ1.1探针很重要。
