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通过双色双荧光原位杂交技术验证12号等臂染色体并鉴定性腺和性腺外人类生殖细胞肿瘤中的其他12号染色体畸变。

Verification of isochromosome 12p and identification of other chromosome 12 aberrations in gonadal and extragonadal human germ cell tumors by bicolor double fluorescence in situ hybridization.

作者信息

Suijkerbuijk R F, Looijenga L, de Jong B, Oosterhuis J W, Cassiman J J, Geurts van Kessel A

机构信息

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

出版信息

Cancer Genet Cytogenet. 1992 Oct 1;63(1):8-16. doi: 10.1016/0165-4608(92)90056-e.

DOI:10.1016/0165-4608(92)90056-e
PMID:1330288
Abstract

A diverse group of gonadal and extragonadal human germ cell tumors (GCT) and GCT-derived cell lines was examined for the presence of an i(12p) marker chromosome and/or other abnormalities involving chromosome 12, especially 12p, by bicolor double fluorescence in situ hybridization (FISH). For this purpose three probes, pBS-12, M28, and p alpha 12H8, were used, allowing specific identification of the entire chromosome 12, its short arm, and its pericentromeric region, respectively. The presence of one or more copies of a genuine i(12p) chromosome could be demonstrated in three GCT of the testis, in one ovarian GCT, in one dysgenetic GCT, and in one extragonadal intracranial GCT. Moreover, additional aberrations involving chromosome 12 were shown to be present not only in i(12p) minus but also in i(12p) positive GCT. These data suggest that the occurrence of such aberrations may be a common, although less clearly perceptible and frequent, phenomenon in human GCT.

摘要

通过双色双荧光原位杂交(FISH),对一组多样的性腺和性腺外人类生殖细胞肿瘤(GCT)以及GCT衍生的细胞系进行检测,以确定是否存在i(12p)标记染色体和/或其他涉及12号染色体(尤其是12p)的异常情况。为此,使用了三种探针,即pBS - 12、M28和pα12H8,分别用于特异性识别整条12号染色体、其短臂及其着丝粒周围区域。在三个睾丸GCT、一个卵巢GCT、一个发育异常的GCT和一个性腺外颅内GCT中,均可证实存在一条或多条真正的i(12p)染色体。此外,不仅在i(12p)阴性的GCT中,而且在i(12p)阳性的GCT中,均显示存在涉及12号染色体的其他畸变。这些数据表明,此类畸变的发生在人类GCT中可能是一种常见现象,尽管不太明显且频率较低。

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Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints.
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Refined mapping of the human Ets-related gene Elk-1 to Xp11.2-p11.4, distal to the OATL1 region.
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