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目的应用多重连接探针扩增法(MLPA)亚端粒探针分析(Subtelomere Assay)联合荧光原位杂交(FISH)对自然流产绒毛进行遗传学分析,并探讨绒毛组织染色体嵌合现象的发生与自然流产的关系。方法31例自然流产、16例IVF/ICSI治疗后流产、10例正常对照绒毛组织,同时进行细胞培养核型分析及MLPA联合FISH检测。结果细胞培养核型分析与MLPA联合FISH检测的成功率分别为71.93%(41/57)、100%(57/57),两者差异有统计学意义(P<0.001);自然流产组绒毛染色体异常率61.29%(19/31),IVF/ICSI流产组绒毛染色体异常率56.25%(9/16),正常对照组为10%(1/10);正常对照组绒毛16、18、X、Y 3对染色体的平均嵌合率为98.6%±1.32%,以正常对照组3对染色体平均嵌合率-2SD为界限值下限统计嵌合发生率;自然流产组和IVF/ICSI流产组绒毛嵌合率分别为38.71%(12/31)、25%(4/16),高于正常对照组。结论自然流产绒毛组织的染色体异常率、嵌合现象发生率均高,是导致胚胎自然流产的重要原因。
Objective To analyze the genetics of spontaneous abortion villus using MLPA subtelomere Assay combined with fluorescence in situ hybridization (FISH) and to investigate the occurrence of chorionic chimerism The relationship between spontaneous abortion. Methods 31 cases of spontaneous abortion, 16 cases of abortion after IVF / ICSI treatment and 10 cases of normal control chorionic villus tissue cell karyotype analysis and MLPA combined with FISH detection. Results The success rates of karyotype analysis by cell culture and MLPA combined with FISH were 71.93% (41/57) and 100% (57/57), respectively, with significant difference between the two groups (P <0.001) The rate of abnormality was 61.29% (19/31) in the abortion group, 56.25% (9/16) in the IVF / ICSI abortion group and 10% (1/10) in the normal control group. The normal control group had 16, 18, The average chimerism rate of 3 pairs of chromosomes was 98.6% ± 1.32%, and the average chimeric rate of 3 pairs of chromosomes in normal control group was -2SD as the lower limit of chimerism rate. The chorionic villus chimerism in spontaneous abortion group and IVF / ICSI abortion group The rates were 38.71% (12/31) and 25% (4/16), respectively, which were higher than those of the normal control group. Conclusions The rate of chromosomal abnormalities and chimerism in spontaneous abortion chorion tissue are both high, which is an important reason leading to spontaneous abortion of embryos.