杜氏肌营养不良症基因内探针P - 20的MspI 2.2 kb等位基因在中国人群中的频率显著更高。
Significantly higher frequency of the MspI 2.2 kb allele of the Duchenne muscular dystrophy intragenic probe P-20 in the Chinese population.
作者信息
Wei J, Guo Y, Chen B, Yang Y
机构信息
Department of Medical Genetics, Shandong Medical University, Jinan, People's Republic of China.
出版信息
Hum Genet. 1992 Sep-Oct;90(1-2):149-50. doi: 10.1007/BF00210761.
PMID:1385293
Abstract
The P-20 intragenic marker was used to test for restriction fragment length polymorphisms in unrelated Chinese patients with Duchenne or Becker muscular dystrophy or X-linked mental retardation. In addition to polymorphism at the 6.0/3.5 kb MspI allelic site, we found an independent and high frequency of polymorphism at the 2.2/1.8 kb site. This differs from results found with other populations.
摘要
使用P-20基因内标记物检测无亲缘关系的中国杜氏或贝克型肌营养不良症患者或X连锁智力迟钝患者的限制性片段长度多态性。除了在6.0/3.5 kb MspI等位基因位点存在多态性外，我们还在2.2/1.8 kb位点发现了一个独立的高频多态性。这与在其他人群中发现的结果不同。
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