中国人着色性干皮病遗传互补组分析  

Genetic complementation group analysis of xeroderma pigmentosum patients in China

作　　者：墙克信[1] 章扬培[2] 韩振波 由英[2] 焦海燕[1] 徐方[1] 徐平[4] 孙丽亚[2] 霍正浩[1] 彭亮[1] 喻昭[4] M Ikenage 

机构地区：[1]宁夏医学院医学遗传教研室,银川750004 [2]北京军事医学科学院九所 [3]日本京都大学放射线研究中心 [4]宁夏医学院附属医院皮肤科,银川750004

出　　处：《中华医学遗传学杂志》1999年第5期285-289,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金

摘　　要：目的　建立中国人着色性干皮病（ｘｅｒｏｄｅｒｍａ ｐｉｇ ｍ ｅｎｔｏｓｕ ｍ ， Ｘ Ｐ） 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 Ｘ Ｐ 细胞互补组。结果　４ 株 Ｘ Ｐ 细胞中，３ 株属 Ｃ 组，１ 株属 Ｅ 组， Ｅ 组 Ｘ Ｐ 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 Ｘ Ｐ 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 Ｘ Ｐ Ｃ 组居多。而日本人 Ｘ Ｐ 细胞分布以 Ｘ Ｐ Ａ 组居多， Ｘ Ｐ Ｃ 组极少。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.

关 键 词：着色性干皮病 遗传互补组分析 细胞融合技术 

分 类 号：R758.580.2[医药卫生—皮肤病学与性病学] R596.1[医药卫生—临床医学]