Tan J, Qiu X F, Xue J L, Liu Z D, Li Y S, Zai C H
Institute of Genetics, Fudan University, Shanghai.
Yi Chuan Xue Bao. 1991;18(1):6-11.
Myotonic dystrophy (DM) is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. In the present paper, the DNA from 61 normal individuals and a DM family with 15 members of 4 generations were collected and digested with PstI, then hybridized with the LDR152 (D19S19). The results showed that the alleles for the PstI polymorphism were 19 and 11kb in size (gene frequencies were 0.4344 and 0.5656 respectively, which are obviously different from the previous data reported). In this DM family, the carriers who had lived most of their life without knowing that they had been infected with the disease were detected by the LDR152 and the estimation of DM risk on at-risk-individuals was also calculated.
强直性肌营养不良（DM）以常染色体显性性状遗传，其特点是表现度可变且发病年龄较晚。在本文中，收集了61名正常个体和一个有4代15名成员的DM家族的DNA，用PstI进行消化，然后与LDR152（D19S19）杂交。结果显示，PstI多态性的等位基因大小分别为19kb和11kb（基因频率分别为0.4344和0.5656，与先前报道的数据明显不同）。在这个DM家族中，通过LDR152检测出了那些一生大部分时间都不知道自己感染了这种疾病的携带者，并且还计算了对有患病风险个体的DM风险估计值。
