儿童孤独症的染色体脆性位点研究  

A Study of the Fragile Sites in Autism

作　　者：张静[1] 金伟华[2] 彭惠民[1] 唐吟宇[1] 郭玉萍[1] 

机构地区：[1]重庆医科大学基础医学院生物教研室,重庆400016 [2]成都军区总医院药剂科,成都610010

出　　处：《重庆师范学院学报（自然科学版）》2002年第4期81-83,共3页Journal of Chongqing Normal University(Natural Science Edition)

摘　　要：研究目的 :探索儿童孤独症与染色体脆性的关系。方法 :采用低叶酸TC199培养诱导法 ,对 80名孤独症儿童和 80名正常儿童进行了外周血淋巴细胞染色体脆性位点表达检测和断裂点频率统计。结果 :孤独症组染色体断裂或裂隙的频率为 16 .2 % ,普通型脆性位点表达 15例 (18.75 % ) ,遗传型脆性位点表达 8例 (10 .0 % ) ;与对照组比较 ,差异均有显著性。结论 :认为较高脆性位点表达率和断裂点频率 。Objective:To investigate the relationship between childhood autism and the chromosome fragile sites. Method:Chromosome fragile sites and breakpoint expression by reducing folacin in TC199 medium were determined in 80 autistic children and 80 normal children.Results:8 cases of rare hereditary fragile sites and 18 cases of general fragile sites were observed in autistic children.Chromosome breakpoints were observed with the frequency of 16.2.These results showed that the observed frequencies were significantly higher than those of the normal children.Conclusion:We believe that chromosomal instability is the cause of occurrence of autism.

关 键 词：儿童孤独症 染色体 脆性位点 发病原因 遗传因素 表达率 断裂点频率 

分 类 号：R749.94[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]