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正常人和已确诊染色体畸变的临床患者中染色体荧光多态性的频率。

Frequency of chromosomal fluorescence polymorphism in normal persons and in clinical patients with diagnosed chromosome aberrations.

作者信息

Schwinger E, Wehner H

出版信息

Hum Genet. 1976 May 19;32(2):115-9. doi: 10.1007/BF00291493.

Abstract

By means of a computer program the frequencies of the strongly fluorescent polymorphous chromosomal segments on chromosomes Nos. 3, 4, 13, 14, 15, 21, and 22 among 89 random normal persons and 247 persons suspected of having various chromosome aberrations were determined. It was discovered that: 1. In none of the 13 diagnosis categories are divergencies in frequency of autosomal fluorescence polymorphism, as compared to the normal group, statistically determinable. 2. A worthwhile comparison of the various frequencies of fluorescence polymorphism as recorded by the various investigators in not possible at present, since the applied methods of assessment differ too widely. 3. Standardization of the criteria of assessment and of the nomenclature for the polymorphous chromosomal segment would seem to be a matter of urgent necessity.

摘要

借助计算机程序,测定了89名随机选取的正常人和247名疑似患有各种染色体畸变的人3号、4号、13号、14号、15号、21号和22号染色体上强荧光多态性染色体片段的频率。结果发现:1. 与正常组相比,在13个诊断类别中,常染色体荧光多态性频率的差异均无统计学意义。2. 目前无法对不同研究者记录的各种荧光多态性频率进行有价值的比较,因为所采用的评估方法差异太大。3. 评估标准和多态性染色体片段命名法的标准化似乎是当务之急。

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