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人类脑组织中的7号染色体三体和性染色体缺失

Trisomy 7 and sex chromosome loss in human brain tissue.

作者信息

Heim S, Mandahl N, Jin Y, Strömblad S, Lindström E, Salford L G, Mitelman F

机构信息

Department of Clinical Genetics, University Hospital, Lund, Sweden.

出版信息

Cytogenet Cell Genet. 1989;52(3-4):136-8. doi: 10.1159/000132863.

Abstract

Short-term cultures of nonneoplastic brain tissue from 11 patients, seven of whom had a malignant brain tumor, were cytogenetically examined. In only a single case was a wholly normal chromosome complement detected; the remaining ten cases exhibited mosaicism with clonal numerical aberrations found alongside cells carrying a normal karyotype. The abnormal clones were characterized by trisomy 7, the loss of the Y chromosome in men and an X chromosome in women, or by combinations thereof. No structural aberrations were present. Our findings demonstrate that although -Y, -X, and +7 have in the past repeatedly been associated with brain tumors, these changes presumably reflect normal in vivo organ mosaicism and, thus, should not be accepted as neoplasia-specific in this context.

摘要

对11例患者的非肿瘤性脑组织进行了短期培养并进行细胞遗传学检查,其中7例患有恶性脑肿瘤。仅在1例中检测到完全正常的染色体组;其余10例表现为嵌合体,在携带正常核型的细胞旁发现克隆性数目畸变。异常克隆的特征为7号染色体三体、男性Y染色体缺失和女性X染色体缺失,或其组合。未发现结构畸变。我们的研究结果表明,尽管-Y、-X和+7过去曾多次与脑肿瘤相关,但这些变化可能反映了体内正常的器官嵌合体,因此,在这种情况下不应被视为肿瘤特异性变化。

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