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具有正常切除修复能力但紫外线耐受性降低的着色性干皮病(作者译)

[Xeroderma pigmentosum with normal excision-repair capacity and decreased U-V tolerance (author's transl)].

作者信息

Sandhofer M, Tuschl H, Kovac R, Altmann H

出版信息

Wien Klin Wochenschr. 1976 Apr 30;88(9):296-9.

PMID:973389
Abstract

Unscheduled DNA synthesis was investigated in the peripheral lymphocytes of a 31-year-old woman suffering from Xeroderma pigmentosum, clinically manifest since early childhood. The present data indicate a normal level of excision repair capacity, though U-V sensitivity was increased. The present case is considered to be a new variant of the syndrome Xeroderma pigmentosum, demonstrating once more its genetic heterogeneity. The question of a relationship between the observed data and the known occurrence of carcinoma in the light-exposed skin areas remains to be answered.

摘要

对一名自幼年起就患有色素性干皮病的31岁女性外周淋巴细胞中的非程序性DNA合成进行了研究。目前的数据表明,尽管紫外线敏感性增加,但切除修复能力水平正常。本病例被认为是色素性干皮病综合征的一种新变体,再次证明了其遗传异质性。观察到的数据与光暴露皮肤区域已知的癌症发生率之间的关系问题仍有待解答。

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