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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
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
关键词
着色性干皮病
遗传互补组分析
细胞融合技术
Xeroderma pigmentosum Genetic complementation group Cell fusion technique
