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一条idic(X)(p22.3::p22.3)染色体的对称复制模式和性染色质体形成

Symmetrical replication patterns and sex chromatin bodies formation of an idic(X)(p22.3::p22.3) chromosome.

作者信息

Mutchinik O, Casas L, Ruz L, Lisker R, Lozano O

出版信息

Hum Genet. 1981;57(3):261-4. doi: 10.1007/BF00278940.

Abstract

The morphologic and staining characteristics of the sex chromatin bodies and the DNA replication patterns were studied in a patient with a 45,X/46,X,idic(X)(p22.3::p22.3) karyotype and in a normal woman. The analysis showed a relatively high frequency of bipartite Barr bodies as well as some variation of the distance, staining intensity, and size relationship between their halves. Regarding the DNA replication studies, in 71% of the cells the abnormal X chromosome showed a synchronous pattern, and in the remaining 29%, in which a slight asynchrony was present, an almost equal proportion of early and late functional and nonfunctional centric halves was observed. Furthermore, the atypical chromosome had a quite similar replication pattern to the late replicating X chromosome of the normal woman, suggesting that its sequence of DNA sythesis was not altered.

摘要

对一名核型为45,X/46,X,idic(X)(p22.3::p22.3)的患者及一名正常女性的性染色质体的形态学和染色特征以及DNA复制模式进行了研究。分析显示,二分体巴氏小体的频率相对较高,并且其两半之间的距离、染色强度和大小关系存在一些变化。关于DNA复制研究,在71%的细胞中,异常X染色体呈现同步模式,而在其余29%存在轻微不同步的细胞中,观察到功能和非功能着丝粒半体的早期和晚期比例几乎相等。此外,这条非典型染色体的复制模式与正常女性的晚复制X染色体非常相似,表明其DNA合成序列未改变。

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