Speer A, Kräft U, Hanke R, Grade K, Coutelle C, Wulff K, Wehnert M, Herrmann F H, Kadasi L, Kunert E
Department of Human Molecular Genetics, Academy of Science GDR, Berlin.
J Med Genet. 1990 Nov;27(11):679-82. doi: 10.1136/jmg.27.11.679.
Over the last two years we have screened 183 DMD/BMD families requesting prenatal diagnosis. Using cDNA probes cf56a,b we have detected exon deletions in 72 of them. In 62 cases the deletion was also detectable with currently available PCR primers. Deletion analysis for exons 8, 17, and 19, using either PCR or Southern blotting techniques, was performed for 65 of the 111 families which showed no deletions with cf56a,b. Eight of them were deleted for one or more of these exons. PCR offers new possibilities for deletion analysis in families without a living patient using either Guthrie papers or histologically conserved material from the dead patient. In 20 of 25 patients, we observed concordance between the clinical picture and the molecular deletion analysis in accordance with the open reading frame hypothesis. Five patients, however, presented with DMD in spite of our analysis showing an in frame deletion. Carrier determination in families in which DMD is caused by a deletion using linkage, dosage, or breakpoint analysis is discussed.
在过去两年中，我们对183个申请产前诊断的杜氏肌营养不良症（DMD）/贝克型肌营养不良症（BMD）家庭进行了筛查。使用cDNA探针cf56a、b，我们在其中72个家庭中检测到了外显子缺失。在62例病例中，使用目前可用的PCR引物也可检测到缺失。对111个使用cf56a、b未显示缺失的家庭中的65个家庭，采用PCR或Southern印迹技术对第8、17和19外显子进行了缺失分析。其中8个家庭的这些外显子中有一个或多个发生了缺失。PCR为使用Guthrie滤纸或已故患者组织学保存材料对无在世患者的家庭进行缺失分析提供了新的可能性。在25例患者中的20例中，根据开放阅读框假说，我们观察到临床症状与分子缺失分析结果一致。然而，有5例患者尽管我们的分析显示为框内缺失，但仍表现为DMD。文中还讨论了在DMD由缺失引起的家庭中使用连锁分析、剂量分析或断点分析来确定携带者的问题。
