[中国着色性干皮病患者的遗传互补组分析]
[Genetic complementation group analysis of xeroderma pigmentosum patients in China].
作者信息
Qiang K, Zhang Y, Han Z, You Y, Jiao H, Xu F, Xu P, Sun L, Ho Z, Peng L, Yu Z, Ikenage M
机构信息
Department of Medical Genetics, Ningxia Medical College, Yinchuan, Ningxia, 750004 P.R.China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Oct;16(5):285-9.
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 XP-C.
目的
建立中国着色性干皮病（XP）患者的皮肤成纤维细胞株，并分析其遗传互补组及分布情况。
方法
从4例XP患者中获取皮肤成纤维细胞株，采用放射自显影和细胞融合技术进行互补组分析。
结果
4例来自明显独立家系的XP患者中，3例被归为C组，1例属于E组。这是中国首例关于XP-E患者的报道。
结论
根据之前7例和目前4例的数据，目前已知的中国XP患者互补组分布为：9例XP-C，1例XP-F和1例XP-E。尽管病例数量仍然有限，但XP-C在中国似乎更为常见。这与日本XP患者形成了显著对比，日本XP患者以XP-A为主，XP-C较少见。
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