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  

Preimplantation Genetic Diagnosis of Robertsonian Translocation by Short Tandem Repeat

作　　者：沈晓婷[1] 吴海涛[2] 徐艳文[1] 钟依平[1] 曾艳红[1] 王静[1] 丁晨晖[1] 周灿权[1] 

机构地区：[1]中山大学附属第一医院广东省生殖医学重点实验室,广东广州510080 [2]中山大学附属第三医院,广东广州510080

出　　处：《实用妇产科杂志》2016年第11期830-833,共4页Journal of Practical Obstetrics and Gynecology

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)

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。Objective：To establish a PCR-based method for preimplantation genetic diagnosis（PGD） of Robertsonian translocation by multiple displacement amplification（MDA） combined with short tandem repeat（STR）. Methods：STR loci on the translocation chromosome were selected. Pedigrees analysis were performed by fluorescent PCR using these STR markers to choose the polymorphic loci. Then whole genome of a single cell was directly amplified using MDA and its products were used as template in singleplex polymerase chain reaction （PCR） of informative STR markers found by pedigrees analysis. Results ：4 oocyte retrival cycles（3 PGD cycles） were performed for 3 couples. Pedigrees analyzed were performed for each family by 7 - 15 STR markers. A total of 24 embryos were analyzed. The overall diagnosis efficiency was 95.8% （23/24）. The results showed that 52. 2 % （ 12/23 ） embryos were balanced and 47. 8 % （ 11/23 ） embryos were unbalanced. Six embryos were transferred resulting two healthy live birth with normal karyotype. The clinical pregnancy rate was 66.7% （2/3）. Conclusions：The STR-based PCR protocol can be used for PGD of Robertsonian translocations.

关 键 词：植入前遗传学诊断 多重置换扩增 短串联重复序列 染色体罗氏易位 

分 类 号：R715[医药卫生—妇产科学]