[利用喹吖因芥子气荧光法鉴定人类的几种染色体畸变]

[Identification of several chromosome aberrations in man by the fluorescent method using quinacrine yprite].

作者信息

Kulikov R I, Mashkova M V, Verlinskaia D K, Bondarev G N

出版信息

Tsitologiia. 1976 Feb;18(2):213-8.

PMID:59989

Abstract

The applications of the fluorescent staining of chromosomes with quinacrine mustard allowed to identify a dicentric Y-chromosome in two patients with defected external gynaetalies: a boy of 15 years old and a girl of 2 years old. Both the patients had mosaicism of sex chromosomes: 45, x/46, x dic (Y). The dicentric Y-chromosome, resembling chromosome, 16, had bright luminescence of the thelomeric regions characteristic of the normal Y-chromosome. Besides, a balanced autosomic translocation t (1, 14) (q 31, q 3) was found in the girl identified also with quinacrine mustard fluorescent staining.

摘要

用喹吖因氮芥对染色体进行荧光染色的应用，使得在两名外生殖器有缺陷的患者中鉴定出一条双着丝粒Y染色体：一名15岁男孩和一名2岁女孩。两名患者均存在性染色体嵌合体：45,X/46,X dic(Y)。这条双着丝粒Y染色体类似16号染色体，具有正常Y染色体特征性的端粒区域明亮荧光。此外，在该女孩中还发现了一种平衡的常染色体易位t(1,14)(q31,q3)，同样也是通过喹吖因氮芥荧光染色鉴定出来的。

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引用本文的文献

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Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.等臂双着丝粒Y染色体：细胞遗传学、分子学及临床研究与文献综述

Hum Genet. 1995 Jul;96(1):119-29. doi: 10.1007/BF00214200.

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