Upadhyaya M, Smith R A, Thomas N S, Norman A M, Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
Clin Genet. 1990 Jun;37(6):456-62. doi: 10.1111/j.1399-0004.1990.tb03530.x.
DNA from 164 unrelated Duchenne muscular dystrophy patients was screened with cDNA probes from the dystrophin gene. Molecular deletions were demonstrated in 82 (50%) subjects. Sixty-two deletions (76%) were detected using cDNA probes Cf56a (cDNA 8) and Cf56b (cDNA 6-7) which map to the centre of the gene, while 22 deletions (27%) mapped to the 5' end of the gene. In three subjects, the deletion extended from the 5' end to the centre of the gene. One deletion was identified by probe 47-4 (cDNA 5b-7) alone. In six of the deletions, junction fragments of altered size were observed. Using the three cDNA probes, RW2kb, Cf56a (cDNA 8) and Cf56b (cDNA 6-7), 99% of the deletions were detected. This will have implications for prenatal diagnosis in deletion families. Unlike Becker muscular dystrophy, where the deletions are more homogeneous, the deletions in the present study were heterogeneous both in size and position. No correlation between intelligence and either site or extent of deletion was found.
使用来自肌营养不良蛋白基因的cDNA探针，对164名无亲缘关系的杜氏肌营养不良患者的DNA进行了筛查。在82名（50%）受试者中发现了分子缺失。使用定位到基因中心的cDNA探针Cf56a（cDNA 8）和Cf56b（cDNA 6 - 7）检测到62处缺失（76%），而22处缺失（27%）定位到基因的5'端。在三名受试者中，缺失从5'端延伸到基因中心。仅通过探针47 - 4（cDNA 5b - 7）鉴定出一处缺失。在六处缺失中，观察到大小改变的连接片段。使用三种cDNA探针RW2kb、Cf56a（cDNA 8）和Cf56b（cDNA 6 - 7），检测到了99%的缺失。这将对缺失型家族的产前诊断产生影响。与贝克肌营养不良不同，后者的缺失更为均匀，而本研究中的缺失在大小和位置上都是异质性的。未发现智力与缺失的位点或范围之间存在相关性。
