微阵列芯片比较基因组杂交技术在染色体易位携带者胚胎植入前遗传学诊断中的应用  

Clinical investigation to compare aCGH and FISH in preimplantationgenetic diagnosis of chromosome translocation carriers

作　　者：谢言信[1] 徐艳文[2] 苗本郁[2] 曾艳红[2] 王静[2] 周灿权[2] 

机构地区：[1]中山大学孙逸仙纪念医院生殖医学中心,510120 [2]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：《中华妇产科杂志》2014年第3期193-198,共6页Chinese Journal of Obstetrics and Gynecology

基　　金：广东省自然科学基金（$2012010009176）;广州市科技计划（201300000097）

摘　　要：目的 探讨微阵列芯片比较基因组杂交（aCGH）技术用于染色体易位携带者胚胎植入前遗传学诊断（PGD）的效果.方法 2012年1月至2013年6月在中山大学附属第一医院生殖中心共对151对染色体相互易位和62对罗氏易位携带者夫妇进行220个周期的PGD,其中应用aCGH技术对染色体相互易位和罗氏易位携带者行PGD的周期数分别为33和22个周期,应用荧光原位杂交（FISH）技术对染色体相互易位和罗氏易位携带者行PGD的周期数分别为119和46个周期.比较两种检测方法的诊断率.结果 应用aCGH技术对染色体相互易位和罗氏易位携带者易位染色体正常或平衡胚胎检出率分别为38.20％ （123/322）及67.20％ （127/189）,FISH技术分别为15.39％（195/1 267）及30.75％ （202/657）,aCGH技术的检出率均显著高于FISH技术（P均＜0.05）.应用aCGH技术对染色体相互易位和罗氏易位携带者易位染色体的异常胚胎检出率分别为59.32％（191/322）及30.69％ （58/189）,FISH技术分别为83.03％（1 052/1 267）及67.43％ （443/657）,aCGH技术均显著低于FISH技术（P均＜0.05）.aCGH技术检测的染色体相互易位携带者胚胎中,易位染色体正常或平衡、而非易位染色体发生非整倍体改变的异常胚胎检出率为20.19％（65/322）,明显低于罗氏易位携带者的38.62％ （73/189）,两者比较,差异有统计学意义（P＜0.01）.结论 aCGH技术进行染色体易位携带者PGD的易位染色体正常或平衡检出率较FISH技术更高,而相互易位携带者的胚胎中非易位染色体发生非整倍体改变的异常胚胎检出率较罗氏易位携带者低.Objective To investigate the clinical use of array comparative genomic hybridization （aCGH） with fluorescence in situ hybridization （FISH） in preimplantion genetic diagnosis （PGD）for reciprocal and Robertsonian translocation carriers.Methods From Jan.2012 to Jun.2013,a total of 220 PGD cycles from 151 reciprocal translocation and 62 Robertsonian translocation carrier couples,including 33 cycles for reciprocal translocation carriers and 22 cycles for Robertsonian translocation carriers performed using array CGH,and 119 cycles for reciprocal translocation carriers and 46 cycles for Robertsonian translocation carriers performed using FISH were retrospectively studied.The rate of accurate diagnosis was compared between two methods.Results Normal and/or balance rates of the two translocated chromosomes detected by aCGH for both reciprocal and Robertsonian translocation carriers were 38.20% （123/322） and 67.20% （127/189）,significantly higher than 15.39% （195/1 267） and 30.75% （202/657） by FISH （all P 〈0.05）.Abnormal rates of the two translocated chromosomes detected by aCGH for both reciprocal and Robertsonian translocation carriers were 59.32% （191/322） and 30.69% （58/189）,significantly lower than 83.03% （1 052/1 267） and 67.43% （443/657） by FISH （all P 〈 0.05）.And the rate of aneu ploidy in non-translocated chromosome from reciprocal translocation embryos was 20.19% （65/322）,which was significantly lower than 38.62% （13/189） from Robertsonian translocation embryos （P 〈 0.01）.Conclusions Normal and/or balance rates of the two translocated chromosomes detected by array CGH were significantly higher than FISH.And the rate of aneuploidy in nontranslocated chromosomes from reciprocal translocation embryos was significantly lower than that from Robertsonian translocation embryos.

关 键 词：易位 遗传 植入前诊断 微阵列分析 核酸杂交 原位杂交 荧光 

分 类 号：R714.8[医药卫生—妇产科学]