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| 山东省假性肥大型肌营养不良的RFLP分析(基因和生化诊断的比较研究) | |
| 引用本文： | 郭亦寿,魏建军,陈丙玺,龚瑶琴,姜源,邵常顺,杨亚萍. 山东省假性肥大型肌营养不良的RFLP分析(基因和生化诊断的比较研究)[J]. 山东大学学报(医学版), 1992, 0(3) |
| 作者姓名： | 郭亦寿 魏建军 陈丙玺 龚瑶琴 姜源 邵常顺 杨亚萍 |
| 作者单位： | 山东医科大学医学遗传学教研室，山东医科大学医学遗传学教研室，山东医科大学医学遗传学教研室，山东医科大学医学遗传学教研室，山东医科大学医学遗传学教研室，山东医科大学医学遗传学教研室，山东医科大学医学遗传学教研室 |
| 摘 要： | 以限制性片段长度多态分析(RFLPs)的基因诊断结果为标准,通过分析5个DMD/BMD家系中肯定和可疑的女性携带者,评价和确定血清CPK和Mb检测对携带者检出的可信度。结果表明,在19例风险>15%的可疑携带者中,CPK检测对确定和排除携带者的准确率分别为83.3%和84.6%,结合Mb检测,提高了检出准确性。 |
| 关 键 词： | 肌营养障碍 基因 诊断 限制性片段长度多态分析 |
APPLICATION OF RFLP ANALYSIS TO DUCHEMNE AND BECKER MUSCULAR DYSTROPHY IN SHANDONG PROVINCE:COMPARITION BETWEEN CPK AND RFLP ANALYSIS |
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| Guo Yishou,et al Dept.of Medical Genetics,Shandong Medical University. APPLICATION OF RFLP ANALYSIS TO DUCHEMNE AND BECKER MUSCULAR DYSTROPHY IN SHANDONG PROVINCE:COMPARITION BETWEEN CPK AND RFLP ANALYSIS[J]. Journal of Shandong University:Health Sciences, 1992, 0(3) | |
| Authors: | Guo Yishou et al Dept.of Medical Genetics Shandong Medical University |
| Abstract: | The carrier status can be detected around 70% obilgate carriers by using creatine kinase(CPK)alone.Up to date,there is no direct evi-dence to clarify carrier status in DMD/BMD families by use of CPK test.In this study,both DNA analysis and CPK examination were processed in five big DMD/BMD families,in which carrier status were demonstrated in 10 obligate carriers and 19 females at risks.With gene diagnosis as a standard(95% reliability),CPK showed the abilities of ascertaining and eliminating carrier status in 83.3% and 84.6% of the possible carriers,respectively.Obviously,it is very promissing and applicable for CPK to detect and to screen carrier status in the isolated family,and combined diagnostic procedure of both RFLP and CPK analysis will present a broad application for DMD/BMD gene tracking,carrier detection and prenatal diagnosis. |
| Keywords: | Muscular dystrophy Genes Diagnosis RFLP analysis |
| 本文献已被 CNKI 等数据库收录！ | |