Mulley J C, Gedeon A K, White S J, Haan E A, Richards R I
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.
J Med Genet. 1991 Jul;28(7):448-52. doi: 10.1136/jmg.28.7.448.
Linkage was shown between the myotonic dystrophy locus (DM) and a highly polymorphic AC repeat marker within the kallikrein (KLK1) locus (Z = 3.00, theta = 0.0). Linkage between KLK1 and the highly polymorphic AC repeat marker within the apolipoprotein C2 (APOC2) locus, which had been established in normal families, was confirmed in myotonic dystrophy families (Z = 4.37, theta = 0.11). These highly polymorphic AC repeat markers flank DM on chromosome 19. The gene order is cen-APOC2 (0.03) DM (0.08) KLK1-qter with recombination frequencies shown in parentheses. Genotypes for the AC repeat markers can be determined simultaneously by multiplex PCR and separation of the two base pair differences between adjacent alleles on sequencing gels. In informative families, this approach provides rapid diagnosis and is more accurate than methods using markers restricted to the proximal side of the myotonic dystrophy gene.
强直性肌营养不良基因座（DM）与激肽释放酶（KLK1）基因座内一个高度多态性的AC重复标记之间显示出连锁关系（Z = 3.00，θ = 0.0）。在正常家族中已确定的载脂蛋白C2（APOC2）基因座内高度多态性AC重复标记与KLK1之间的连锁关系，在强直性肌营养不良家族中得到了证实（Z = 4.37，θ = 0.11）。这些高度多态性的AC重复标记位于19号染色体上DM的两侧。基因顺序为cen-APOC2（0.03）DM（0.08）KLK1-qter，括号内为重组频率。AC重复标记的基因型可通过多重PCR以及在测序凝胶上分离相邻等位基因之间的两个碱基对差异来同时确定。在信息充分的家族中，这种方法能实现快速诊断，且比使用局限于强直性肌营养不良基因近端的标记的方法更准确。
