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[杜兴氏肌营养不良基因杂合子携带者状态检测方法的判别分析]

[Discriminant analysis of methods for detecting the heterozygote carrier state for the Duchenne muscular dystrophy gene].

作者信息

Khrennikov V Iu, Sitnikov V F, Deev A I, Svintsitskiĭ I V

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1988;88(11):14-8.

PMID:3223151
Abstract

The authors used the procedure of a step-wise discriminant analysis for comparing the informative value of different methods for revealing heterozygotic carriers of the gene of Duchenne's myodystrophy by means of an analysis of the blood serum and physicochemical properties of erythrocytes in 11 mothers suffering from Duchenne's muscular dystrophy who were obligate (by the findings of a genealogical analysis) carriers of the gene of Duchenne's myodystrophy. Employment of a complex of four methods (determination of the constant of the rate of chloride-bicarbonate metabolism through the erythrocyte membrane, erythrocytic deformability, hemolytic stability of erythrocytes upon their heating at 55 degrees C, and analysis of the activity of serum creatine kinase) has increased 1.8-fold the rate of detecting heterozygotic carriers of the gene of Duchenne's myodystrophy as compared to the creatine kinase test.

摘要

作者采用逐步判别分析程序,通过对11名患有杜氏肌营养不良症的母亲(根据系谱分析结果,她们必然是杜氏肌营养不良症基因的携带者)的血清和红细胞理化特性进行分析,比较不同方法在揭示杜氏肌营养不良症基因杂合子携带者方面的信息价值。与肌酸激酶检测相比,采用四种方法的组合(通过红细胞膜测定氯-碳酸氢盐代谢速率常数、红细胞变形性、红细胞在55摄氏度加热时的溶血稳定性以及血清肌酸激酶活性分析)使检测杜氏肌营养不良症基因杂合子携带者的速率提高了1.8倍。

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