[分子生物学在杜氏肌营养不良症缺失诊断与检测中的应用]
[Molecular biology in diagnosis and detection of deletion in Duchenne muscular dystrophy].
作者信息
Graninger W, Wintersberger W, Meron G, Smolen J, Toifl K, Vormittag W
机构信息
II. Medizinische Universitätsklinik, Wien.
出版信息
Wien Klin Wochenschr. 1991;103(7):207-9.
PMID:2063586
Abstract
For the purpose of carrier identification and genetic counselling we investigated deletions of the Duchenne muscular dystrophy (DMD) gene in three families of patients with Duchenne muscular dystrophy. Using a limited number of probes of the DMD cDNA in Southern blots, we detected a deletion in only one patient. Additional methodology is necessary to warrant reliable identification of carriers and exact prenatal diagnosis.
摘要
为了进行携带者鉴定和遗传咨询，我们对三个杜氏肌营养不良症（DMD）患者家庭中的DMD基因缺失情况进行了调查。在Southern印迹分析中使用有限数量的DMD cDNA探针，我们仅在一名患者中检测到了缺失。需要额外的方法来确保可靠地鉴定携带者和进行准确的产前诊断。
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