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31.
Duchenne and Becker muscular dystrophy (DMD and BMD) genes are located in Xp21 on the short arm of the X chromosome. DMD patients display a much more severe clinical course than BMD patients, and yet about 10% of cases of each have been reported to have deletions for parts of the gene. Using a complementary DNA subclone of the DMD gene we have screened 66 DMD and BMD patients who had not previously shown deletions with the probes then available. Fifteen patients have a deletion of this part of the gene, indicating a higher deletion frequency in this region (22%). Exons were deleted in five severely affected DMD patients and in ten BMD patients. Significantly, most of these deletions begin in the same region of the cDNA, which implies that there is a common mechanism for the generation of many of these mutations. An apparently identical deletion in one family gave classical BMD in two brothers (presenting in their teens) and only very mild muscle weakness in their 86-year-old great-great-uncle. Taking these data together with data using the probes previously published, we are able to detect deletions directly in 40% of our families requiring antenatal diagnosis or carrier detection. 相似文献
32.
针对单输入单输出系统,利用部分可控性矩阵的M-P广义逆作为集结矩阵,提出了一种新的近似集结法模型降阶方法。首先给出了当系统可控与不可控时的2种降阶模型,然后通过误差最小分析归结为一种降阶模型,并利用向量到子空间的距离给出了不同阶降阶模型误差的一个简单计算方法。以此误差作为标准,可以方便地选择满足需要的降阶阶数及降阶模型。最后以实例表明了该方法的有效性和应用性。 相似文献