应用BoBs技术检测复发性流产组织中的染色体异常  

Detection of chromosomal abnormalities in abortic tissues derived from patients with recurrent abortions using BoBs technique

作　　者：蒋鑫[1] 赵淑芹[1] 潘秀杰[1] 仇雪梅[1] 牛鑫 李梅 解晓丽 刘诗雅 Jiang Xin;Zhao Shuqin;Pan Xiujie;Qiu Xuemei;Niu Xin;Li Mei;Xie Xiaoli;Liu Shiya(Reproductive and Genetic Center,Maternal and Child Health Care Hospital of Zaozhuang,Shandong 277100,China)

机构地区：[1]枣庄市妇幼保健院生殖遗传中心,山东277100

出　　处：《中华医学遗传学杂志》2019年第5期502-504,共3页Chinese Journal of Medical Genetics

基　　金：山东省自然科学基金(ZR2015HM067).

摘　　要：目的 探讨细菌人工染色体标记-磁珠鉴别/分离(BACs-on-Beads,BoBs)技术对于检测复发流产组织中的染色体异常的价值.方法 收集流产组织109例,用BoBs技术进行检测,分析染色体异常的种类及发生率,比较不同年龄、不同孕周及不同流产次数的患者的流产组织染色体异常率.结果 检测成功率为100%.流产组织中染色体异常的发生率为62.39%(68/109),主要包括16三体(12/68)、22三体(9/68)、13三体(9/68)及21三体(8/68).>35岁组的染色体异常发生率显著高于<35岁组(P<0.05).停经42~70天的流产组织中染色体异常偏多.流产2次、3次和4次者的染色体异常率相近.结论 BoBs技术检测流产组织染色体的成功率高、检出率高,可以用于常规筛查,指导患者的再次妊娠.Objective To assess the value of BACs-on-Beads(BoBs)technique for the detection of chromosomal abnormalities in abortus tissues from recurrent pregnancy loss.Methods A total of 109 abortus samples were collected and analyzed with the BoBs technique.The incidence and types of chromosomal abnormalities for different age groups and gestational weeks were compared.Results The BoBs assay has succeeded in all cases,with an incidence for chromosomal abnormalities being 62.39%(68/109).The major findings included trisomy 16(12/68),trisomy 22(9/68),trisomy 13(9/68)and trisomy 21(8/68).The abnormal rate was significantly higher in those above 35 year old compared with that of the<35 year old group(P<0.05).More aberrations were found among abortus tissues derived from 42~70 days of pregnancy albeit with no statistical significance(P>0.05).The aberration rates were similar for samples derived from second,third and fourth time abortions(P>0.05).Conclusion BoBs technique can detect chromosomal aberrations in miscarriages and may be routinely used for the analysis of early spontaneous abortions.

关 键 词：复发性流产 胚胎组织 BoBs技术 染色体 非整倍体 

分 类 号：R71[医药卫生—妇产科学]