[面肩肱型肌营养不良症的基因诊断]
[Gene diagnosis of facioscapulohumeral muscular dystrophy].
作者信息
Zhang Jing-li, Shen Ding-guo, Zhou Ping-kun, Liu Jian-wei, Jia Ning, Liu Hong, Wang Hong-bin, Yang Su-xia, Frants Rune R
机构信息
Institute of Geriatrics and Gerontology, Beijing, 100853 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Jun;20(3):232-4.
OBJECTIVE
To observe the characteristics of changes of p13E-11 labelled 4q35 EcoRI fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy(FSHD).
METHODS
Genomic DNA was extracted and was digested by EcoR I /Bln I. After pulsed field gel electrophoresis, it was hybridized with probe p13E-11 by Southern blot. The illness was diagnosed as FSHD when the 4q35 EcoRI fragment was smaller than 38 kb.
RESULTS
In 26 cases of FSHD, the fragments of 20 cases were smaller than 38 kb. The positive rate was 76.92%. In 12 cases of FSHD family members, the fragments of 2 cases were smaller than 38 kb. All fragments of the 21 controls were greater than 38 kb.
CONCLUSION
It was rather good to use <38 kb as a standard for diagnosis of FSHD. The positive rate of FSHD was similar to that from the references.
目的
观察p13E - 11标记的4q35 EcoRI片段的变化特征，并对面肩肱型肌营养不良症（FSHD）进行基因诊断。
方法
提取基因组DNA，用EcoR I / Bln I进行消化。脉冲场凝胶电泳后，通过Southern印迹与探针p13E - 11杂交。当4q35 EcoRI片段小于38 kb时，将该疾病诊断为FSHD。
结果
26例FSHD患者中，20例片段小于38 kb，阳性率为76.92%。12例FSHD家族成员中，2例片段小于38 kb。21例对照的所有片段均大于38 kb。
结论
以<38 kb作为FSHD的诊断标准效果较好。FSHD的阳性率与参考文献相似。
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