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着色性干皮病(XP)是一种少见的遗传性疾病。本病对目光过敏、可发生多种皮肤新生物和在多数细胞系中有DNA修复异常。可用羊膜囊穿刺术取得胎儿细胞能作出产前诊断。作者报道一个叙利亚家庭,双亲为表兄妹,2名孩子患有严重XP。对第1个男孩(XP42MA)的皮肤所培养的成纤维细胞用放射自显影术测定,不按时DNA合成(UDS)是对照值的10%,用XP的有关细胞株进行互补实验,其结果说明XP42MA属于互补群D。最近其母亲
Coloring dry skin disease (XP) is a rare genetic disease. The disease is allergic to the eye, can occur a variety of skin neoplasms and DNA repair abnormalities in most cell lines. Available amniotic sac puncture to obtain fetal cells can make prenatal diagnosis. The authors cover a Syrian family with cousins as cousins and two children with severe XP. Fibroblasts cultured on the skin of the first boy (XP42MA) were assayed by autoradiography and non-timed DNA synthesis (UDS) was 10% of the control value, and complementation experiments were performed with the relevant XP cell lines XP42MA belongs to complementary group D. Recently her mother