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采用PCR方法对25例有家族史Dachenne肌营养不良(DMD)患者及7例健康对照者(女性)进行外周血检测。结果表明:(1)DMD患者多为男性,说明此病为性连锁隐性遗传;(2)25例DMD,患者有18例发现DMD基因exon48附近有缺失,支持exon48附近是DMD基因发生缺失的“热点”的看法。
Twenty-five patients with family history Dachenne’s muscular dystrophy (DMD) and seven healthy controls (women) were tested by PCR for peripheral blood. The results showed that: (1) DMD patients are mostly male, indicating that the disease is sex-linked recessive inheritance; (2) 25 cases of DMD, 18 cases of patients found that exon48 near DMD gene deletion, support exon48 near the DMD gene deletion “Hot spot” view.