van Ommen G J, Bertelson C, Ginjaar H B, den Dunnen J T, Bakker E, Chelly J, Matton M, van Essen A J, Bartley J, Kunkel L M
Department of Human Genetics, Sylvius Laboratories, State University of Leden, The Netherlands.
Genomics. 1987 Dec;1(4):329-36. doi: 10.1016/0888-7543(87)90032-2.
By cloning the endpoints of a DMD-associated deletion, we have "jumped" 1100 kb from pERT87-1 (DSX164) to a new locus designated J66 (DXS268), mapping distally within the Duchenne muscular dystrophy (DMD) gene. Both J66 and JBir are mapped by field-inversion gel electrophoresis and detect abnormal SfiI fragments in DMD patients and distal DMD-associated X; autosome translocations. Our long-range map extends the physical map of the DMD gene from 800 to 2000 kb (2 Mb) and increases the mapped portion of Xp21 to approximately 8 Mb. The position of the glycerol kinase gene and the adrenal hypoplasia locus are further confined to the region between J66 and the nearest distal probe L1-4. This region spans at least 1.5 Mb. The multiallelic J66 polymorphism has immediate application in the diagnosis of DMD and generally appears to be distal to DMD mutations.
通过克隆与杜氏肌营养不良症(DMD)相关的缺失片段的端点,我们从pERT87 - 1(DSX164)“跨越”了1100 kb,到达一个新的位点,命名为J66(DXS268),它位于杜氏肌营养不良症(DMD)基因的远端。J66和JBir均通过脉冲场凝胶电泳进行定位,并在DMD患者和与DMD相关的远端X;常染色体易位中检测到异常的SfiI片段。我们的长程图谱将DMD基因的物理图谱从800 kb扩展到2000 kb(2 Mb),并将Xp21的定位部分增加到约8 Mb。甘油激酶基因和肾上腺发育不全位点的位置进一步限定在J66和最近的远端探针L1 - 4之间的区域。该区域至少跨越1.5 Mb。多等位基因J66多态性在DMD的诊断中有直接应用,并且通常似乎位于DMD突变的远端。