用高分辨G带和人工细菌染色体荧光原位杂交技术分析中国儿童孤独症患者的染色体改变(英文)  

Detection of chromosome aberrations in Chinese children with autism using G-banding and BAC FISH

作　　者：刘青杰[1] 马芬[1] 李丹[2] 王晓维[1] 田文雁[2] 陈艳[1] 封江彬[3] 陆雪[3] 陈德清[3] 陈晓宁[1] 沈岩[1] 

机构地区：[1]国家人类基因组北方研究中心,北京100176 [2]华中科技大学同济医学院梨园医院 [3]中国疾病预防控制中心辐射防护与核安全医学所

出　　处：《中华医学遗传学杂志》2005年第3期254-257,共4页Chinese Journal of Medical Genetics

基　　金：国家863计划项目(2003AA221081);中国博士后基金委科学基金(2002031044);湖北省自然科学基金(2003ABA131)

摘　　要：目的检测中国儿童孤独症患者的特征性染色体改变。方法应用高分辨G带和人工细菌染色体(bacterialartificialchromosome,BAC)荧光原位杂交(flourescenceinsituhybridization,FISH)分析68例中国儿童孤独症患者的染色体改变。结果用G带分析观察到有染色体改变的4例患者,分别为1例t(4;6)(q2324;p21)、1例21p+和2例9号染色体臂间倒位。BACFISH进一步证实易位病例,而且更精确[t(4;6)(q2526;p21.1)];涉及7号、15号、2号染色体的BACFISH均未观察到文献中报道的染色体改变;而9号染色体的臂间倒位和21p+因无BAC克隆而无法证实。结论用G带和BACFISH发现少数中国孤独症患者有染色体改变,但远没有文献中报道的10%～48%那么高。BACFISH有助于精确地确定染色体易位断裂点。Objective To detect the characteristic chromosomal changes in Chinese children with infantile autism. Methods Chromosome aberrations in 68 cases of infantile autism were analyzed by high-resolution G-banding and fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) clones. Results Chromosomal changes were detected in 4 cases by high-resolution G-banding: one case with t(4;6)(q23-24;p21), one case with longer p arm of chromosome 21 (21p+), and two cases with pericentric inversion of chromosome 9 (inv(9)) which was confirmed by C-banding. BAC FISH analysis was performed to confirm these observations and changes in chromosomes 2, 7 and 15, which are often found in autistic children. There could exist the translocation of t(4;6) (q25-26;p21.1). Chromosome changes often reported previously in chromosomes 2, 7 and 15 were not detected in this study. Inv(9) and 21p+ were not confirmed with present BAC clones. Conclusion Chromosomal changes were detected in four cases of infantile autism, with a detectability of 59%, far lower than that (10% to 48%) reported in literature. The breakpoint of translocation could be detected more accurately using BAC FISH method.

关 键 词：高分辨G带 人工细菌 染色体 荧光原位杂交技术 中国 儿童 孤独症 

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]