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范可尼贫血症患者及正常细胞在体内和体外共培养后的染色体断裂情况

Chromosome breakage in Fanconi's anemia and normal cells following in vitro and in vivo cocultivation.

作者信息

Shaham M, Adler B

出版信息

Cancer Genet Cytogenet. 1986 Dec;23(4):315-20. doi: 10.1016/0165-4608(86)90014-2.

Abstract

Studies of Fanconi's anemia (FA) have been in conflict as to the existence of a clastogenic factor. Two male FA patients who received bone marrow transplants were studied. One FA patient received a transplant from his normal sister whose engrafted lymphocytes showed spontaneous, as well as diepoxybutane (DEB)-induced chromosome breakage in the normal range. The second FA patient received a transplant from his obligate heterozygous mother whose engrafted lymphocytes exhibited increased spontaneous chromosome breakage but not in response to DEB treatment. In vitro cocultivation of FA and FA heterozygous lymphocytes and of FA and normal lymphocytes showed chromosome breakage levels consistent with their genotypes. These results suggest that no detectable clastogenic factor is produced by FA cells.

摘要

关于范可尼贫血(FA)中是否存在致断裂因子的研究一直存在争议。对两名接受骨髓移植的男性FA患者进行了研究。一名FA患者接受了来自其正常妹妹的移植,其植入的淋巴细胞显示出自发性以及在正常范围内的二环氧丁烷(DEB)诱导的染色体断裂。第二名FA患者接受了来自其必然杂合母亲的移植,其植入的淋巴细胞表现出自发性染色体断裂增加,但对DEB治疗无反应。FA和FA杂合淋巴细胞以及FA和正常淋巴细胞的体外共培养显示染色体断裂水平与其基因型一致。这些结果表明FA细胞不会产生可检测到的致断裂因子。

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