细菌人工染色体微球技术在产前诊断中的应用  

The application of BACs-on-Beads on the chromosome karyotype analysis of prenatal diagnosis

作　　者：王昕[1] 王一鹏[1] 王威[1] 李维[1] 任建宇[1] 管晓娇 王树玉[2] 

机构地区：[1]首都医科大学附属北京妇产医院检验科,100026 [2]首都医科大学附属北京妇产医院生殖医学科,100026

出　　处：《北京医学》2017年第11期1132-1134,共3页Beijing Medical Journal

摘　　要：目的总结细菌人工染色体标记磁珠鉴别/分离技术(BACs-on-Beads,BoBs)应用于产前诊断的结果。方法采集190例孕18~24周孕妇的羊水标本,应用BoBs技术快速检测13、18、21、X、Y染色体异常及9种染色体微缺失,并与常规羊水染色体核型的G显带分析结果及荧光原位杂交(fluorescence in-situ hybridization,FISH)结果进行比较。结果 BoBs检出的染色体异常包括:21号染色体三体40例;18号染色体三体4例;13号染色体三体2例;性染色体数目异常6例;猫叫综合征1例。BoBs对于染色体非整倍体的检出情况与常规羊水染色体核型分析及FISH结果一致,且检出常规手段无法检出的猫叫综合征1例。结论 BoBs作为一种新的高通量分子检测技术,具有快速、简便、准确率高等优点,适用于产前诊断。Objective To discuss the using of BACs-on-Beads （BoBs） on prenatal diagnosis. Methods One hun- dred and ninty pregnant women at 18 to 24 weeks specimens of amniotic fluid were collected. Fetal chromosome abnor- mality of 13, 18, 21, X, 51, and nine kinds of microdelection were detected with BoBs technology, and compared with nor- mal amniotic fluid chromosome G banding of karyotype analysis result and the result of FISH. Results For chromosome aneuploidy, BoBs technology had the similar detection rate consistent with normal amniotic fluid karyotype analysis and the result of the FISH. BoBs screened out 1 cases of Cri du Chat Syndrome from the pregnant women while karyotype analysis and FISH didn＇ t. Conclusion BoBs, as a kind of new high-throughput molecular detection technology, has ad- vantages of rapid, simple and high accuracy, and is suitable for prenatal diagnosis.

关 键 词：细菌人工染色体标记磁珠鉴别 分离技术 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]