应用FISH技术快速诊断512例稽留流产者绒毛组织染色体数目异常  

The application of fish technique to make a rapid diagnosis on 512 patients with missed abortion and abnormal chromosome number of chorea tissue

作　　者：施建有 童郁[1] 蔡晓晓 陈璐[1] 陈亥 唐少华[2] SHI Jian-you;TONG Yu;CAI Xiao-xiao;CHEN Lu;CHEN Hai;TANG Shao-hua(Department of Clinical Laboratory,Wenzhou People Hospital,The Third Clinical College of Wenzhou Medical University,Wenzhou 325000,Zhejiang,China;Department of Clinical Laboratory,Wenzhou Central Hospital,Dingli Clinical College of Wenzhou Medical University,Wenzhou 325000,Zhejiang,China)

机构地区：[1]温州医科大学附属第三临床学院、温州市人民医院检验科 [2]温州医科大学附属定理学院、温州市中心医院检验科,浙江温州325000

出　　处：《中国优生与遗传杂志》2018年第7期22-24,62,共4页Chinese Journal of Birth Health & Heredity

基　　金：温州市科技计划项目(2017Y0339)

摘　　要：目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在快速检测稽留流产者绒毛组织染色体数目异常中的价值。方法采用13,16,18,21,22,X和Y染色体特异性DNA探针,对512例稽留流产者绒毛组织进行FISH检测,同时了解稽留流产者绒毛染色体异常情况及其与患者年龄和流产次数的差异。结果 512例标本FISH检测全部成功,绒毛染色体数目异常231例(45.12%)。其中24例13-三体、68例16-三体、11例18-三体、16例21-三体、50例22-三体、15例X单体、31例三倍体、11例四倍体和5例其他异常嵌合情况。孕妇既往自然流产次数、孕妇年龄与染色体数目异常无明显关系(P>0.05)。结论染色体数目异常是导致稽留流产的重要原因,FISH技术可以快速检测流产绒毛组织染色体异常,为病因诊断和再生育的优生指导提供依据。Objective：To discuss the value of fluorescence in situ hybridization（FISH）technique in the rapid detection on patients with missed abortion and abnormal chromosome number of chorea tissue. Methods：The chorea tissue of 512 patients with missed abortion were detected by Using DNA probe specific for chromosome specific of 13,16,18,21,22,X and Y. Meanwhile,we have known the condition of patients with missed abortion and abnormal chromosome,and its difference between patient′s age and abortion times. Results：There were 512 specimens were successfully tested by FISH,while there were 231 cases with abnormal villus and chromosome numbers（45.12%）. However,there were 24 cases with 13 trisomy,68 cases with 16 trisomy,11 cases with 18 trisomy,16 cases with 21 trisomy,50 cases with 22 trisomy,15 cases with monosome X,31 cases with triploid,11 cases with tetraploid and 5 cases of other abnormal chimeric. There was no significant relationship among the times of spontaneous abortion,pregnant age and abnormal chromosome numbers（P〉0.05）. Conclusion：The abnormal chromosome number is an important reason for the missed abortion. FISH technique can rapidly detect the abnormal chromosome number of chorea tissue,which can provide the basis for the etiological diagnosis and the eugenic guidance for reproduction.

关 键 词：荧光原位杂交 稽留流产 绒毛组织 染色体数目异常 

分 类 号：R714.21[医药卫生—妇产科学]