MLPA快速诊断胎儿染色体非整倍体疾病方法的研究与应用

目的 将多重探针依赖式扩增技术(multiplex ligation-dependent probe amplification,MLPA)用于检测大部分胎儿染色体非整倍体疾病（如13、18、21、X、Y等染色体非整倍体疾病）,并将结果与常规经典染色体核型分析相比较,以此来评估其应用价值. 方法 305份产前诊断...

A research and application of multiplex ligation-dependent probe amplification(MLPA) in rapid prenatal detection of fetal chromosomes aneuploid abnormalities.

Objective To apply the technology of multiple ligation-dependent probe amplification （MLPA） detecing fetal chromosome aneuploid abnormality diseases（ep 13,18,21and sex chromosome abnormalities）,and then compare the results with the conventional karyotyping to assess the application value.Methods 305 prenatal diagnosis cases including 201 amniotic fluid samples,70 umbilical cord blood sample and 34 chorionic villi samples were collected.DNA was isolated from the samples and detected by MLPA using kit P095 and then the results were obtained by using ABI310 genetic analyzer.Analysis of copy number changes for chromosomes 13,18,21,X and Y was carried out with RH-MLPA-Analysis software.The routine karyotype analysis was also done for all the samples.Results MLPA results were found in 24 hours after receiving samples.It detected 21 cases of abnormal samples including 8 cases of Down syndrome,5 cases of Eswards syndrome,2 cases of Patau syndrome,4 cases of Turner syndrome,1 case of XXY and 1case of XYY.The coincidence of MLPA was 98.36%.Conclusion When using MLPA to detect 13,18,21,X and Y chromosome aneuploid abnormalities,MLPA was a rapid and efficient method used for analyzing aneuploids that has the value of clinical applications compared with conventional karyotyping.