单核苷酸多态微阵列技术在产前诊断中的应用  

APPLICATION OF SNP MICROARRAY TECHNIQUES IN PRENATAL DIAGNOSIS

作　　者：冯桐 李华锋 朱金萍 王郡甫[1] FENG Tong;LI Hua-feng;ZHU Jin-ping;WANG Jun-fu(Ji'nan University Shandong Academy of Medical Sciences Institute of Medicine and Life Science,Ji'nan 250000;Linyi Women and Children's Hospital,Linyi 276000)

机构地区：[1]济南大学山东省医学科学院医学与生命科学学院,山东济南250000 [2]临沂市妇女儿童医院,山东临沂276000

出　　处：《山东医学高等专科学校学报》2019年第6期405-408,共4页Journal of Shandong Medical College

摘　　要：目的 探讨提高产前诊断准确率的方法。方法 选取508名孕妇,对其胎儿进行SNP检测和核型分析,比较两种方法检测结果的异同。结果 SNP阳性检出率为21.65%,高于染色体核型分析13.19%(χ^2=12.65,P <0.01)。染色体核型分析检出的2例47,XN,+mar,SNP可追溯微小额外标记染色体的来源和性质;染色体核型分析检出的5例平衡易位,SNP均未检出;在染色体核型分析正常的病例中,SNP检测出12例明确致病CNVs。结论 SNP染色体微阵列技术是一种有效的诊断亚微观的基因组不平衡的方法。Objective To explore ways to improve the accuracy of prenatal diagnosis.Methods A total of 508 pregnant women were selected for SNP and karyotype analysis of their fetuses.The similarities and differences between the two methods were compared.Results The positive rate of SNP was 21.65%,which was higher than the karyotype analysis of 13.19%(χ^2=12.65,P<0.01).Two cases of karyotype analysis,47,XN,+mar,SNP can trace the source and nature of micro-exclusively labeled chromosomes;For the 5 cases of balanced translocation detected by karyotype analysis,SNP was not detected;In the normal cases of type analysis,12 cases of clear pathogenic CNVs were detected by SNP.Conclusion SNP chromosome microarray technology is an effective method for diagnosing submicroscopic genomic imbalance.

关 键 词：单核苷酸多态微阵列 产前 染色体异常 微缺失/微重复 

分 类 号：R446.7[医药卫生—诊断学]