Byth B C, Love D R, Murray J C, Davies K E
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
Cytogenet Cell Genet. 1992;60(3-4):216-8. doi: 10.1159/000133342.
Recently, an autosomal homolog of the dystrophin gene (DMDL) was identified on chromosome 6q24. As part of our analysis of the DMDL locus, we endeavoured to isolate DNA markers to further define the genetic map of this region. We have isolated and characterized two new genetic markers in the region of the DMDL locus, the RFLP D6S129 and a (CA)n dinucleotide repeat polymorphism within the DMDL gene itself and have positioned them on the existing genetic map of chromosome 6q. These markers will be important in testing the hypothesis that the DMDL gene is the locus responsible for autosomal forms of neuromuscular disease.
最近，在6号染色体长臂24区发现了抗肌萎缩蛋白基因（DMDL）的常染色体同源基因。作为我们对DMDL基因座分析的一部分，我们致力于分离DNA标记，以进一步确定该区域的遗传图谱。我们在DMDL基因座区域分离并鉴定了两个新的遗传标记，即RFLP D6S129和DMDL基因本身的一个（CA）n二核苷酸重复多态性，并将它们定位在6号染色体长臂的现有遗传图谱上。这些标记对于检验DMDL基因是导致常染色体形式神经肌肉疾病的基因座这一假说将具有重要意义。
