论文部分内容阅读
目的评价MLPA技术(multiplex ligation-dependent probe amplification,多重连接依赖式探针扩增技术)在绒毛染色体非整倍体异常诊断中的应用价值。方法应用MLPA技术检测62份绒毛标本,同时行FISH技术(fluorescence in situ hybridization,荧光原位杂交技术)和常规染色体核型分析技术,比较3者的准确性。结果符合无菌要求的54例标本做染色体核型分析,成功率为94.4%;11例标本做FISH检测,检出1例XO;62例标本做MLPA-P095和P036检测,P095检测结果和FISH结果的吻合率达100%;P036明确1例常规染色体核型分析难以辨别的不平衡易位。结论 MLPA技术在绒毛染色体非整倍体异常的快速诊断中有较高的应用价值。
Objective To evaluate the value of multiplex ligation-dependent probe amplification (MLPA) in the diagnosis of aneuploidy of chorionic villi. Methods The MLPA technique was used to detect 62 villus samples. Fluorescence in situ hybridization (FISH) and conventional karyotype analysis were used to compare the accuracy of the three methods. Results According to the aseptic requirements of 54 cases of chromosome karyotype analysis, the success rate was 94.4%; 11 cases of specimens were detected by FISH, detected in 1 case of XO; 62 cases of MLPA-P095 and P036 detection, P095 test results and FISH The coincidence rate of the results reached 100%; P036 clear unbalanced translocation of a case of conventional karyotype analysis difficult to distinguish. Conclusion MLPA technique has high value in rapid diagnosis of aneuploid aneuploidy abnormalities.