CNVplex联合STR技术在复发性流产遗传学查因中的应用

发布时间：2018-11-24 17:18

【摘要】：目的运用快速检测绒毛染色体拷贝数变化的方法探讨复发性流产查因途径。方法对60例反复自然流产病例的绒毛样本(孕13周前)分别进行多重DNA拷贝数(CNVplex)和荧光原位杂交(FISH)技术检测,所有样本同时行绒毛培养核型分析验证。结果 48例培养成功的复发性流产病例,染色体异常率为60.42%。其中48例CNVplex检测结果与核型分析相一致:包括20例染色体正常者、23例常染色体三体,3例三倍体和2例45,XO(Turner综合征);而FISH检测结果中与核型分析结果相符的只有38例。对于非嵌合体和非结构异常样本,两种方法与细胞遗传学核型分析结果符合率分别为100%(CNVplex)和79.17%(FISH)。结论应用CNVplex联合短串联重复序列(STR)技术可检测绒毛染色体拷贝数及检测5 Mbp以上的重复和缺失异常,利于分析流产病因。
[Abstract]:Objective to investigate the pathogenetic pathway of recurrent abortion by rapid detection of chromosome copy number in chorionic villi. Methods multiple DNA copy number (CNVplex) and fluorescence in situ hybridization (FISH) were performed in 60 cases of recurrent spontaneous abortion (before 13 weeks of pregnancy). Karyotype analysis of chorionic villi culture was performed in all samples at the same time. Results the chromosome abnormality rate was 60.42% in 48 cases of recurrent abortion. The results of CNVplex in 48 cases were consistent with the karyotype analysis, including 20 cases of normal chromosome, 23 cases of autosomal trisomy, 3 cases of triploid and 2 cases of Turner syndrome. The results of FISH were consistent with the results of karyotype analysis in 38 cases. For non-chimeric and non-structural abnormal samples, the coincidence rates between the two methods and cytogenetic karyotype analysis were 100% (CNVplex) and 79.17% (FISH)., respectively. Conclusion CNVplex combined with short tandem repeat (STR) technique can be used to detect chromosome copy number of villi and to detect repeat and deletion abnormalities above 5 Mbp, which is helpful to analyze the etiology of abortion.
【作者单位】：南京医科大学附属无锡妇幼保健院产前诊断中心;南京医科大学附属无锡妇幼保健院计划生育中心;
【基金】：无锡市医管中心面上项目(YGZXM1510) 江苏省妇幼保健重点资助项目(F201315) 无锡市科技发展基金项目(CSE31N1511)
【分类号】：R714.21

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