使用DMD cDNA克隆8通过剂量分析检测杜氏肌营养不良症携带者。
Detection of Duchenne muscular dystrophy carriers by dosage analysis using the DMD cDNA clone 8.
作者信息
Mao Y P, Cremer M
机构信息
Institut für Humangenetik und Anthropologie der Universität, Heidelberg, Federal Republic of Germany.
出版信息
Hum Genet. 1989 Jan;81(2):193-5. doi: 10.1007/BF00293903.
Deletion screening in 11 unrelated DMD patients has been performed using DMD cDNA clones 1-8. Of these 11 patients, 6 exhibit deletions of the cDNA clone 8. The carriership of 18 female relatives from these six DMD families has been investigated by dosage analysis. It is shown that dosage analysis is an available method to determine the carrier status of the female relatives of DMD patients showing a deletion within a DMD cDNA clone.
已使用DMD cDNA克隆1 - 8对11名无亲缘关系的杜氏肌营养不良症（DMD）患者进行了缺失筛查。在这11名患者中，有6名表现出cDNA克隆8的缺失。通过剂量分析对这六个DMD家族的18名女性亲属的携带者状态进行了研究。结果表明，剂量分析是确定在DMD cDNA克隆内显示缺失的DMD患者女性亲属携带者状态的一种可行方法。
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