短串联重复序列在染色体罗氏易位植入前遗传学诊断的应用

发布时间：2018-03-14 09:49

本文选题：植入前遗传学诊断　切入点：多重置换扩增　出处：《实用妇产科杂志》2016年11期 　论文类型：期刊论文

【摘要】：目的:采用多重置换扩增(MDA)结合短串联重复序列(STR)建立一种基于PCR技术诊断染色体罗氏易位的植入前遗传学诊断(PGD)方法。方法:选择位于易位染色体上的STR位点,对家系采用荧光PCR进行分析,选择有多态性的位点,再采用MDA对单细胞进行全基因组扩增,根据家系分析的结果,对具有多态性的STR位点进行分析诊断。结果:对3个家系进行了4个取卵周期(3个PGD周期),每个家系分别采用7~15个具有多态性的STR位点进行分析,共对24个胚胎进行诊断。PGD的诊断效率为95.8%(23/24),平衡胚胎占52.2%(12/23),异常胚胎占47.8%(11/23),共移植了6个胚胎,获得2例临床妊娠,临床妊娠率为66.7%(2/3),出生了2个健康婴儿,染色体核型均正常。结论:采用依赖于STR的PCR分析法可以用于染色体罗氏易位的PGD。
[Abstract]:Objective: to establish a preimplantation genetic diagnosis method based on PCR technique for the diagnosis of chromosome Roche translocation by using multiple replacement amplification mDAs and short tandem repeats (STR). Methods: the STR loci located on the translocation chromosomes were selected. The families were analyzed by fluorescent PCR, and the polymorphic loci were selected. Then the whole genome of single cell was amplified by MDA. Analysis and diagnosis of polymorphic STR loci. Results: four egg extraction cycles (3 PGD cycles) were performed in 3 families, and 7 ~ 15 polymorphic STR loci were used in each family. A total of 24 embryos were diagnosed. The diagnostic efficiency of PGD was 95.80.23%, the balanced embryo accounted for 52.22%, and the abnormal embryo accounted for 47.8% of 23%. Six embryos were transferred, and 2 cases of clinical pregnancy were obtained. The clinical pregnancy rate was 66.7%, and the rate of clinical pregnancy was 66.7%, and 2 healthy babies were born. Conclusion: the STR dependent PCR assay can be used to analyze the chromosomal Roche translocation of PGD.
【作者单位】：中山大学附属第一医院广东省生殖医学重点实验室;中山大学附属第三医院;
【基金】：国家自然科学基金项目(编号:81370765) 广东省自然科学基金博士启动项目资助(编号:S2013040014613)
【分类号】：R714.8

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