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15号染色体短臂与其他D组染色体频繁发生易位。

Frequent occurrence of translocations of the short arm of chromosome 15 to other D-group chromosomes.

作者信息

Smeets D F, Merkx G F, Hopman A H

机构信息

Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

出版信息

Hum Genet. 1991 May;87(1):45-8. doi: 10.1007/BF01213090.

Abstract

The presence of DA/DAPI (distamycin A/4,6-diamino-2-phenyl-indole) heteromorphism on the short arm of human acrocentric chromosomes was investigated in 127 individuals. In 7 cases, a DA/DAPI signal was observed on an acrocentric chromosome other than 15. Subsequently, in situ hybridization (ISH) with a pericentromeric probe specific for chromosome 15 was carried out. In all 7 cases, three ISH signals were present in every metaphase, i.e., on both chromosomes 15 and on the third DA/DAPI-fluorescence-positive acrocentric chromosome (a chromosome 13 or 14), indicating that a chromosome 15 short arm was also present on these chromosomes. Therefore, we conclude that translocations of short arm sequences from chromosome 15 onto other D-group chromosomes occur frequently. Moreover, it appears that DA/DAPI staining remains specific for the short arm of chromosome 15, despite a number of recent papers suggesting otherwise.

摘要

在127名个体中研究了人类近端着丝粒染色体短臂上DA/DAPI(放线菌素A/4,6-二氨基-2-苯基吲哚)异态性的存在情况。在7例中,在15号以外的近端着丝粒染色体上观察到了DA/DAPI信号。随后,使用针对15号染色体的着丝粒周围探针进行了原位杂交(ISH)。在所有7例中,每个中期都有三个ISH信号,即在两条15号染色体以及第三条DA/DAPI荧光阳性的近端着丝粒染色体(13号或14号染色体)上,这表明这些染色体上也存在15号染色体短臂。因此,我们得出结论,15号染色体短臂序列向其他D组染色体的易位频繁发生。此外,尽管最近有一些论文提出了相反的观点,但DA/DAPI染色似乎仍对15号染色体短臂具有特异性。

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