杜兴氏肌营养不良基因座的体细胞嵌合现象。
Somatic mosaicism at the Duchenne locus.
作者信息
Lebo R V, Olney R K, Golbus M S
机构信息
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco.
出版信息
Am J Med Genet. 1990 Oct;37(2):187-90. doi: 10.1002/ajmg.1320370206.
Results of testing a family for carrier status and prenatal diagnosis for Duchenne muscular dystrophy (DMD) are best explained by somatic mosaicism in the maternal grandfather. This genetic situation was identified using segregation analysis of intragenic DNA polymorphisms, a serum creatine phosphokinase assay, and physical examination of the patients. This event at the DMD locus represents one more potential source of error in carrier testing and prenatal diagnosis.
对一个家庭进行杜氏肌营养不良症（DMD）携带者状态检测和产前诊断的结果，最好用外祖父的体细胞嵌合现象来解释。这种遗传情况是通过对基因内DNA多态性进行分离分析、血清肌酸磷酸激酶检测以及对患者进行体格检查来确定的。DMD基因座上的这一事件代表了携带者检测和产前诊断中另一个潜在的误差来源。
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