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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.

DOI:10.1007/BF00291493
PMID:1270069
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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1
Frequency of chromosomal fluorescence polymorphism in normal persons and in clinical patients with diagnosed chromosome aberrations.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。
Hum Genet. 1976 May 19;32(2):115-9. doi: 10.1007/BF00291493.
2
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Human chromosomal polymorphism. IV. Chromosomal Q polymorphism in Russians living in Kirghizia.人类染色体多态性。IV. 生活在吉尔吉斯斯坦的俄罗斯人的染色体Q多态性。
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引用本文的文献

1
LBA technique in the detection of chromosome variants. II. Chromosomes except for those with Q variants.用于检测染色体变异的LBA技术。II. 除具有Q变异的染色体外的其他染色体。
Hum Genet. 1977 Oct 14;38(3):307-14. doi: 10.1007/BF00402157.
2
A cytogenetic survey of an institution for the metnally retarded. III. Q-Band chromosome heteromorphisms.一所智障机构的细胞遗传学调查。III. Q带染色体多态性。
Hum Genet. 1979 Nov;52(2):203-10. doi: 10.1007/BF00271574.

本文引用的文献

1
DNA-binding fluorochromes for the study of the organization of the metaphase nucleus.用于研究中期细胞核组织结构的DNA结合荧光染料。
Exp Cell Res. 1969 Nov;58(1):141-52. doi: 10.1016/0014-4827(69)90124-4.
2
Fluorescent chromosome polymorphisms: frequencies and segregations in a Dutch population.荧光染色体多态性:荷兰人群中的频率与分离情况
Clin Genet. 1974;6(4):247-57. doi: 10.1111/j.1399-0004.1974.tb02086.x.
3
[Polymorphisms in human chromosomes--a new aid for affiliation cases (author's transl)].[人类染色体多态性——亲子鉴定案例的新辅助手段(作者译)]
Z Rechtsmed. 1974 Mar 29;74(1):17-23. doi: 10.1007/BF01869180.
4
Human karyotype polymorphism. III. Routine ank fluorescence microscopic investigation of chromosomes in normal adults and mentally retarded children.人类染色体核型多态性。III. 正常成年人和智力发育迟缓儿童染色体的常规银染荧光显微镜检查
Humangenetik. 1975;26(1):1-23. doi: 10.1007/BF00280281.
5
The value of fluorescence markers in the distinction between maternal and fetal chromosomes.荧光标记物在区分母源和胎儿染色体中的价值。
Humangenetik. 1975;26(3):187-91. doi: 10.1007/BF00281452.