不同分子遗传学方法用于自然流产绒毛细胞遗传分析的效果

Genetic analysis of chorionic villi specimen in spontaneous abortion using various methods

目的探讨多重连接探针扩增法（MLPA）＋荧光原位杂交（FISH）和比较基因组杂交（CGH）＋FISH的分子遗传学方法用于自然流产绒毛细胞遗传分析的效果。方法收集29例自然流产绒毛组织以及6例选择性终止早期妊娠妇女的绒毛组织，采用CGH＋FISH、MLPA＋FISH方法进行遗传学分析，并与传统的绒毛细胞培养染色体核型分析结果进行比较。结果MLPA＋FISH检测时间为40h，CGH＋FISH检测时间为120h，绒毛细胞培养染色体核型分析时间为（240±72）h，3者分别比较，差异有统计学意义（P〈0．01）。CGH、MLPA、FISH和绒毛细胞培养染色体核型分析的标本成功获检率分别为97％（34／35）、100％（35／35）、100％（35／35）和91％（32／35），4者比较，差异无统计学意义（P〉0．01）。除去CGH获检失败的1份样本外，MLPA＋FISH与CGH＋FISH的分析结果一致，CGH获检失败的1例标本经MLPA＋FISH检测获得了结果。CGH＋FISH或MLPA＋FISH检测结果与绒毛细胞培养染色体核型分析结果的不一致率分别为13％（4／31）、12％（4／32），两者比较，差异无统计学意义（P〉0．05）。结论MLPA＋FISH检测耗时短，检测成功率高；MLPA＋FISH检测用于自然流产绒毛细胞遗传分析是对绒毛细胞培养染色体核型分析方法的重要补充。

Objective To explore the efficacy of muhiplex ligation-dependent probe amplification （MLPA） combined with fluorescence in situ hybridization （FISH） and comparative genomic hybridization （CGH） combined with FISH in genetic analysis of chorionic villi specimen（CVS） of spontaneous abortion. Methods CGH ＋ FISH and MLPA ＋ FISH were used for genetic analysis of 29 CVS from spontaneous abortion and 6 normal CVS from selective abortion, in the mean time, those results were compared with conventional cytogenetic karyotyping. Results The report time were 40 hours in MLPA ＋ FISH and 120 hours in CGH ＋ FISH. The mean time of chorionic villi culture was （240±72）hours. The successful rate of specimen analysis were 97% （34/35） in CGH, 100% （35/35） in MLPA, 100% （35/35） in FISH and 91% （32/35） in conventional cytogenetic karyotyping. Apart from 1 case failed in CGH analysis, the results from MLPA ＋ FISH were almost similar to that from CGH ＋ FISH, however, that 1 specimen failed in CGH were detected successfully by MLPA ＋ FISH. The discrepancy rate were 13% （4/31） in CGH ＋ FISH and 12% （4/32） in MLPA ＋ FISH respectively when compared with conventional cytogenetic analysis. Conclusions MLPA ＋ FISH analysis present shorter detecting time and achieve 100% rate of successful report. This combined method was an important adjuvant approach to conventional cytogenetic karyotyping in CVS from spontaneous abortion.