论文部分内容阅读
分子生物学,特别是重组DNA技术的出现,使我们对人类遗传病有了更深入的认识。这一领域的进展是极其迅速的,其中最明显的例子就是对X-连锁遗传病Duchenne肌营养不良症(DMD)的研究。用基因组探针检测携带者和产前诊断已经证明XJ1.1和pERT基因组探针,及侧翼探针如C7、754和99.6对于发现DMD携带者和产前诊断具有不可估量的价值。受累患儿血清CK水平是正常儿童的100～200倍,但用于检测携带者却不可靠,因为有1/3的肯定携带者的CK水平在正常范围。而应用RFLP进行的连锁分析具有很高的可信
The emergence of molecular biology, especially recombinant DNA technology, has given us a deeper understanding of human genetic diseases. Progress in this area is extremely rapid, the most obvious of which is the study of Duchenne’s muscular dystrophy (DMD), an X-linked genetic disease. Detection of carriers and prenatal diagnosis with genomic probes The XJ1.1 and pERT genomic probes and flanking probes such as C7, 754 and 99.6 have been shown to be invaluable for discovering DMD carriers and for prenatal diagnosis. Children with CK serum levels of 100 to 200 times the normal children, but for the detection of carriers are unreliable, because 1/3 of affirmative carriers of CK levels in the normal range. Linkage analysis using RFLP is highly credible