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本文对近10年来我院遗传咨询门诊就诊的244例 Duchenne 型肌营养不良(DMD)基因肯定携带者及可能携带者进行血清肌酸激酶(CK)、乳酸脱氢酶(LDH)、肌红蛋白(Mb)联合检测,并首次应用 Fisher 判别方程,使携带者检出率明显提高。肯定携带者组及家族史阴性可能携带者组,Fisher判别与应用一种酶检测结果对比,P 值分别<0.01,0.05。说明血清 CK、LDH、Mb 联合检测方法,进行 Fisher 判别检出 DMD 致病基因携带者,具有较大的临床应用价值,本法简便另行,价格便宜。
In this paper, 244 cases of Duchenne muscular dystrophy (DMD) gene positive carriers and potential carriers in our hospital for genetic counseling clinics in the recent 10 years were studied for serum creatine kinase (CK), lactate dehydrogenase (LDH), myoglobin (Mb) joint detection, and the first application of Fisher discriminant equation, so that carrier detection rate was significantly improved. Positive carrier group and negative family history negative carrier group, Fisher discriminant and application of an enzyme test results, P values were <0.01,0.05. Description of serum CK, LDH, Mb joint detection methods for the detection of DMD pathogenicity Fisher gene detection of carriers, with greater clinical value, the method is simple and convenient, the price is cheap.