人类新着丝粒的五个新位置：18q22.1、Xq27.1∼27.2、近端着丝粒p13、近端着丝粒p12以及来源不明的异染色质。

Five novel locations of Neocentromeres in human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and heterochromatin of unknown origin.

作者信息

Klein E, Rocchi M, Ovens-Raeder A, Kosyakova N, Weise A, Ziegler M, Meins M, Morlot S, Fischer W, Volleth M, Polityko A, Ogilvie C Mackie, Kraus C, Liehr T

机构信息

Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.

出版信息

Cytogenet Genome Res. 2012;136(3):163-6. doi: 10.1159/000336648. Epub 2012 Mar 1.

DOI:10.1159/000336648

PMID:22377933

Abstract

Since the first report in 1993, an ectopic centromere, i.e. neocentromere formation, has been reported in more than 100 small supernumerary marker chromosomes (sSMC), in 7 instances of centromere repositioning, and in about a dozen cases with more complex chromosomal rearrangements. Here we report 2 new cases with centromere repositioning and 3 neocentric sSMC consisting exclusively of heterochromatic material. Yet, no centromere formation was reported for the regions 18q22.1 and Xq27.1∼27.2 as it was observed in the 2 cases with centromere repositioning here; in both cases, cytogenetically an inversion was suggested. Two of the 3 neocentric sSMC were derived from a short arm of an acrocentric chromosome. The remainder neocentric sSMC case was previously reported and was stainable only by material derived from itself.

摘要

自1993年首次报道以来，在100多条小的额外标记染色体（sSMC）、7例着丝粒重新定位以及约12例更复杂染色体重排的病例中均报告了异位着丝粒，即新着丝粒形成。在此，我们报告2例新的着丝粒重新定位病例以及3条仅由异染色质物质组成的新着丝粒sSMC。然而，18q22.1和Xq27.1∼27.2区域未报告有新着丝粒形成，而在我们这里报告的2例着丝粒重新定位病例中观察到了新着丝粒形成；在这2例病例中，细胞遗传学提示存在倒位。3条新着丝粒sSMC中有2条来源于近端着丝粒染色体的短臂。其余新着丝粒sSMC病例此前已有报道，且仅能用其自身来源的物质进行染色。