家族性发育异常痣综合征对G2染色单体辐射损伤的超敏反应。

Hypersensitivity to G2 chromatid radiation damage in familial dysplastic naevus syndrome.

作者信息

Sanford K K, Tarone R E, Parshad R, Tucker M A, Greene M H, Jones G M

机构信息

Laboratory of Cellular and Molecular Biology, National Cancer Institute, Bethesda, MD.

出版信息

Lancet. 1987 Nov 14;2(8568):1111-6. doi: 10.1016/s0140-6736(87)91546-7.

DOI:10.1016/s0140-6736(87)91546-7

PMID:2890020

Abstract

Skin fibroblasts from 25 members of nine kindreds with familial dysplastic naevus syndrome (DNS), 12 apparently normal spouses, and 11 additional unrelated normal individuals were tested for G2 cell-cycle phase sensitivity to ionising radiation. The cells from individuals with DNS or hereditary cutaneous malignant melanoma with DNS (HCMM/DNS) had significantly more chromatid breaks and gaps when entering metaphase 0.5-1.5 h after G2 phase X-irradiation (1 Gy) than those from unaffected controls. In two cases, the test results positively identified individuals before the clinical diagnosis of DNS. A clinically normal obligate carrier of the HCMM/DNS gene showed the enhanced G2 radiosensitivity. Moreover, in a test on 1 proband, the sensitivity was apparent in peripheral blood lymphoblasts. Enhanced G2 chromatid radiosensitivity may be a marker of genetic susceptibility to HCMM/DNS.

摘要

对来自9个患有家族性发育异常痣综合征（DNS）家系的25名成员、12名表面正常的配偶以及11名其他无关正常个体的皮肤成纤维细胞进行了检测，以评估其G2细胞周期阶段对电离辐射的敏感性。与未受影响的对照组相比，患有DNS或伴有DNS的遗传性皮肤恶性黑色素瘤（HCMM/DNS）个体的细胞在G2期X射线照射（1 Gy）后0.5 - 1.5小时进入中期时，具有明显更多的染色单体断裂和裂隙。在两例病例中，检测结果在DNS临床诊断之前就准确识别出了个体。一名临床正常的HCMM/DNS基因的必然携带者表现出增强的G2放射敏感性。此外，在对1名先证者的检测中，外周血淋巴细胞也表现出敏感性。增强的G2染色单体放射敏感性可能是对HCMM/DNS遗传易感性的一个标志物。