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红细胞酸性磷酸酶:“单等位基因”状态证明中表型和活性估计的模糊性。

Red blood cell acid phosphatase: ambiguity in phenotype and activity estimations in the proof of the "single allele" states.

作者信息

Pihar O

出版信息

Humangenetik. 1975;27(3):235-40. doi: 10.1007/BF00278351.

Abstract

A population sample of sick children was analyzed for the phenotypes and enzymatic activity of the erythrocyte acid phosphatase. These data were statistically examined for the reliability with which the enzymatic activity of a given phenotype, supposed to be derived from a single allele in the phosphatase gene locus, may be used as a decisive criterion in distinguishing such an event from the normal states with the fully functioning pair of alleles. Due to the overlapping of the statistical distribution curves of the normal and defective kins os isozymes, dependent on the relation of x and s, ranges of activity are shown where the measured enzymic activity is not conclusive for the judgement on the number of acting alleles, on the chosen probability level. On the same basis a time saving screening system is proposed for the inteded search for the single-allele states of the phosphatase isozymes; some consequences for the paternity tests with the RBC phosphatase are also mentioned.

摘要

对一组患病儿童样本进行了红细胞酸性磷酸酶的表型和酶活性分析。对这些数据进行了统计学检验,以确定给定表型的酶活性(假定来自磷酸酶基因位点的单个等位基因)作为区分这种情况与具有功能正常的等位基因对的正常状态的决定性标准的可靠性。由于正常和缺陷同工酶的统计分布曲线重叠,取决于x和s的关系,给出了活性范围,在该范围内,根据选定的概率水平,测得的酶活性对于判断起作用的等位基因数量并无定论。基于同样的基础,提出了一种省时的筛选系统,用于有目的地寻找磷酸酶同工酶的单等位基因状态;还提到了对红细胞磷酸酶亲子鉴定的一些影响。

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