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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。
Objective To investigate the value of single nucleotide polymorphism (SNP) microarray in early spontaneous abortion. Methods From August 2014 to March 2016, 52 patients with early abortion due to unexplained causes were collected in the prenatal diagnosis center of Maternal and Child Health Hospital of Jinhua City. SNP chip technology was used to detect the components of the abortion group, and the common database ISCA international standards for cytogene-ticarrays) and OMIM (online mendelian inheritance in man) were used to compare the results of copy number variations (CNV). RESULTS: Totally 52 cases were successfully detected. Among them, 28 cases were abnormal karyotypes and the rate of abnormality was 53.8%. Among them, 24 cases were abnormal in number, accounting for 85.7% (24/28) of all abnormal karyotypes and 4 cases were abnormal in structure, accounting for 14.3% (4/28). The number of anomalies to trisomy more common. Two cases of CNV were found to be associated with pathogenicity genes. Conclusion As a new molecular genetics technology, SNP chip has the advantages of high resolution, specificity, good stability and the ability to detect abnormal early abortion such as microdeletion or duplication, single diploid and low proportion of chimera. Diagnosis of unexplained natural abortion in pregnant women.