【摘要】 目的探讨单核苷酸多态性基因芯片技术在早期自然流产中的应用价值。方法选择2014年8月到2016年3月在金华市妇幼保健院产前诊断中心就诊的患者,收集52例因不明原因早期流产组织物成分,采用SNP芯片技术进行检测,并应用常用数据库ISCA(international standards for cytogene-ticarrays),OMIM(online mendelian inheritance in man)对有拷贝数变异(copy number variations,CNV)的结果进行比对分析。结果 52例标本全部检测成功,共发现异常分子核型28例,异常检出率53.8%;其中数目异常24例,占所有异常核型的85.7%(24/28),结构异常4例,占14.3%(4/28)。数目异常以三体型多见。发现2例CNV与致病性基因相关。结论 SNP芯片作为一种全新的分子遗传学技术有着分辨率高,特异性、稳定性好等的优点,并能检测微缺失或重复、单亲二倍体、低比例嵌合体等异常早期流产,适用于不明原因自然流产的孕妇的诊断。更多还原

【Abstract】 Objective:To assess the value of SNP gene array for analyzing tissues derived from spontaneous abortion. Methods:The patients in Jinhua Maternal and Child Health Care Hospital were enrolled in this study from August 2014 to March 2016,52 cases with spontaneous abortion were analyzed with SNP gene array.A1 l identified(copy number variations,CNV)were analyzed with references from database of ISCA and OMIM. Results:All of the 52 specimens were successfully analyzed,28 cases were found with chromosomal anomaly,the overall detection rate is 53.8%;Among which included 24 numerical abnormalities(85.7%,24/28)and 4 structural abnormalities(14.3%,4/28). The most common chromosomal num erical abnormality was trisomy. Furthermore,2 cases CNV were found pathogenic gene related. Conclusion:SNP gene array is a new molecular genetic technique,which showed highly accurate,specific and stability,it can detect the chromosomal deletions or duplications,uniparental disomy,lowpercentage mosaicism and other chromosomal abnormalities.SNP gene array could be a useful genetic analysis method for the unexplained spontaneous abortion.更多还原