论文部分内容阅读
Duchenne型肌营养不良症(DMD)家族中携带者的检出以前依靠血清肌酸激酶(CK)的测量,而产前诊断是根据胎儿性别测定结果。DNA探针对X染色体短臂上的限制性片断长度多态性(RFLP)的应用表明的产前诊断可能有高度预测性价值。然而,由于计算风险所用的遗传图距和累积连锁资料之间的不一致,因而在只有一个信息标志的家族中,难于估计风险率这就防碍了本法的应用。例如:754探针在细胞学上定位在靠近DMD座位的Xp21.1-21.2处。起先一致报道,754位点离DMD基因3分摩(cM)
Presence of carriers in the Duchenne muscular dystrophy (DMD) family has previously been measured by serum creatine kinase (CK), and prenatal diagnosis is based on fetal sex determination. The use of DNA probes for restriction fragment length polymorphism (RFLP) on the short arm of the X chromosome suggests that prenatal diagnosis may be highly predictive. However, due to the inconsistencies between the genetic map used to calculate the risk and the cumulative linkage data, it is difficult to estimate the risk ratio in a family with only one information sign, hampering the application of this law. For example: The 754 probe is cytologically localized at Xp21.1-21.2 near the DMD seat. At first it was unanimously reported that 754 sites were separated from the DMD gene by 3 mo (cM)