Takemoto Y, Miki T, Nakura J, Nishikawa K, Kamino K, Takeda S, Kuzu K, Osame M, Nakagawa M, Higuchi I
Jinrui Idengaku Zasshi. 1989 Sep;34(3):189-94. doi: 10.1007/BF01900720.
Myotonic dystrophy (DM) is a genetic disease inherited by an autosomal dominant trait and characterized by multi-organ disorders. Although its biochemical basis has been unknown, the DM locus is closely linked to D19S19 and APOC2 on the long arm of chromosome 19 both in Japanese and Caucasian populations. Linkage studies of Japanese DM families using these polymorphic DNA markers detected two asymptomatic gene carriers in two unrelated families.
强直性肌营养不良(DM)是一种由常染色体显性特征遗传的遗传性疾病,其特征为多器官功能障碍。尽管其生化基础尚不清楚,但在日本和高加索人群中,DM基因座均与19号染色体长臂上的D19S19和APOC2紧密连锁。利用这些多态性DNA标记对日本DM家族进行的连锁研究在两个无亲缘关系的家族中检测到两名无症状基因携带者。