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人类3号染色体上一个没有可检测到的α卫星DNA的新着丝粒形成形态正常的动粒。

A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores.

作者信息

Wandall A, Tranebjaerg L, Tommerup N

机构信息

Department of Medical Genetics, IMBG, University of Copenhagen, Panum, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark.

出版信息

Chromosoma. 1998 Dec;107(6-7):359-65. doi: 10.1007/s004120050319.

Abstract

A neocentromere at 3q26 was observed in a father and his daughter on a chromosome 3 with deleted centromeric region. No alpha-satellite DNA was detectable at the 3q26 neocentromere, but it was weakly positive with anticentromere (CREST) antibodies. Electron microscopy showed that the neocentromere formed microtubule-associated kinetochores with normal morphology and of the same size as the kinetochores of other large chromosomes. The deleted centromere formed a small linear marker chromosome that reacted strongly with anticentromere antibodies, but showed reduced kinetochore size. The 3q26 neokinetochore was stable under adverse growth conditions, which often caused kinetochore loss in the original 3-centromere on the small marker.

摘要

在一位父亲及其女儿的3号染色体上,观察到一个位于3q26的新着丝粒,该染色体的着丝粒区域存在缺失。在3q26新着丝粒处未检测到α-卫星DNA,但它与抗着丝粒(CREST)抗体呈弱阳性反应。电子显微镜显示,新着丝粒形成了与微管相关的动粒,其形态正常,大小与其他大染色体的动粒相同。缺失的着丝粒形成了一个小的线性标记染色体,它与抗着丝粒抗体反应强烈,但动粒尺寸减小。3q26新动粒在不利的生长条件下是稳定的,而这种条件常常导致小标记染色体上原始3号着丝粒的动粒丢失。

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