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中国人着色性干皮病遗传互补组分析 |
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墙克信 章扬培 韩振波 由英 焦海燕 徐方
徐平 孙丽亚 霍正浩 彭亮 喻昭 M Ikenage
【摘要】 目的 建立中国人着色性干皮病(xeroderma pigmentosum,XP)患者成纤维细胞株，分析其遗传互补组及分布。方法 对着色性干皮病患者成纤维细胞进行传代培养、建株，采用放射自显影和细胞融合技术分析XP细胞互补组。结果 4株XP细胞中，3株属C组，1株属E组，E组XP细胞在中国人群中是第1次发现。结论 综合已往报道的中国人XP细胞互补组7例和本研究4例，共计11例，其中C组9例，F组1例，E组1例。说明中国人XP-C组居多。而日本人XP细胞分布以XP-A组居多，XP-C组极少。
【关键词】 着色性干皮病 遗传互补组分析 细胞融合技术
Genetic complementation group analysis of
xeroderma pigmentosum patients in China
QIANG Kexing*, ZHANG Yangpei, HAN Zhenbo, YOU Ying, JIAO Haiyan, XU Fang, XU Ping, SUN Liya, HO Zhenhao, PENG Liang, YU Zhao, M Ikenage.
* Department of Medical Genetics, Ningxia Medical College,
Yinchuan, 750004 P.R.China.
【Abstract】 Objective To establish skin fibroblast cell strains derived from Chinese xeroderma pigmentosum(XP) patients and to analyze the genetic complementation group and distribution.Methods From four XP patients, skin fibroblast cell strains were derived and used for the complementation group analysis by autoradiography and cell-fusion technique.Results Of the four XP patients from apparently independent families, three were assigned to group C, and one belonged to group E. This is the first report on XP-E patient in China.Conclusion Based on the data from the previous 7 cases and the present 4 cases, the distribution of complementation group in Chinese XP patients known at present is:nine XP-C,one XP-F and one XP-E. Although the number of cases is still limited, XP-C appears to be more frequent in China. This forms a marked contrast to Japanese XP patients, who are dominated by XP-A with infrequent presence of PX-C.
【Key words】 Xeroderma pigmentosum Genetic complementation group Cell-fusion technique
着色性干皮病(xeroderma pigmentosum,XP)是一种常染色体隐性遗传病。其主要临床特征是患者皮肤对日光、特别是紫外线高度敏感，皮肤干燥脱屑，雀斑样色素沉着，皮肤易癌变等，是一种由DNA损伤修复缺陷而引起、直接与癌有关的遗传性疾病［1，2］。在对XP病临床遗传学及患者DNA损伤修复能力进行研究的基础上［3，4］，我们进一步研究表明，不同互补组分布有明显地区差异，日本人A组最多，欧美人则C组和D组分布较广[1] [2] [3] 下一页
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