应用全基因组扩增技术对α地中海贫血进行植入前遗传学诊断的效果分析  

Effectiveness of preimplantation genetic diagnosis for α-thalassemia using whole genome amplification

作　　者：李荣[1] 邓明芬[1] 徐艳文[1] 曾艳红[1] 王静[1] 许言 潘家富 周灿权[1] 

机构地区：[1]中山大学附属第一医院生殖医学中心广东省生殖医学重点实验室,广州510080

出　　处：《生殖医学杂志》2018年第2期166-170,共5页Journal of Reproductive Medicine

基　　金：广东省生殖医学重点实验室专项资金(2012A061400003);广州市科技计划项目(201300000097)

摘　　要：目的研究α地中海贫血患者囊胚活检后先进行全基因组扩增后再应用荧光PCR进行诊断的效果。方法回顾分析本中心2015年1月至2016年11月α地中海贫血PGD周期资料,共139个周期,对比分析卵裂球活检后直接应用荧光PCR进行诊断(诊断方法一)与囊胚活检后先进行全基因组扩增后再应用荧光PCR进行诊断(诊断方法二)的结果。结果两组在女方年龄、获卵数、正常受精数均无统计学差异(P>0.05),但方法二(7.61±3.05)的平均活检个数显著小于方法一(9.48±3.66)(P<0.05)。两种方法的正常胚胎率(35.22%vs.25.87%)、杂合子胚胎率(30.11%vs.50.19%)、异常胚胎率(30.11%vs.23.94%)、诊断失败率(16.21%vs.2.81%)有统计学差异(P<0.05),临床妊娠率(50.00%vs.52.17%)无统计学差异(P>0.05)。结论囊胚活检后先进行全基因组扩增后再应用荧光PCR进行诊断的效果明显好于卵裂球活检后直接应用荧光PCR进行诊断。Objective： To investigate the diagnosis effectiveness of application fluorescent PCR after blastocyst biopsy and whole genome amplification for diagnosis of α-thalassemia. Methods： The diagnostic results of directly using fluorescent PCR for α-thalassemia after blastomere biopsy （diagnostic method I） were compared with that apply fluorescent PCR after blastocyst biopsy and whole genome amplification for α-thalassemia （diagnostic method II） retrospectively. Results： There were no significant differences in the female age, number of oocytes retrieved and number of normally fertilized oocytes between the two group（P）0.05）. However, the number of average biopsy of method II（7. 61±3.05）was significantly lower than that of method I（9.48±3.66）（P〈0.05）. Among the PGD results,there were significant differences in the normal embryo rate（35.22% vs. 25.87%）, the heterozygote embryo rate （30.11% vs. 50.19%） ,the abnormal embryo rate（30.11% vs. 23.94%） and the diagnosis failure rate （16.21% vs. 2.81%） between the two groups （all P〈0.05）,and there was no significant difference in the clinical pregnancy rate （50.00 % vs. 52.17 %）（P〈0.05）. Conclusions： The effectiveness of application of genome amplification is obviously better than the blastomere biopsy for diagnosis of α-thalassemia. fluorescent PCR after blastocyst biopsy method of directly using fluorescent and whole PCR after

关 键 词：植入前遗传学诊断 Α地中海贫血 多重置换扩增 

分 类 号：R714.8[医药卫生—妇产科学]