摘要
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份产前诊断标本(羊水201例,脐血70例,绒毛34例)收集做MLPA研究。用试剂盒kit P095检测从样本中提取的DNA,接着用ABI3100毛细管电泳分析仪得到结果,用分析软件RH-MLPA-Analysis分析13、18、21、X和Y染色体的异常拷贝情况。同时进行常规的核型分析,然后比较。结果 MLPA检测在标本收后24h内即可出结果。共检测出异常倍体21例,包括8例唐氏综合症、5例爱德华综合症、2例帕陶氏综合症、4例特纳氏综合症、1例47,XXY和1例47,XYY。临床检出率达98.36%。结论 MLPA检测13、18、21、X、Y等染色体非整倍体疾病时,与核型分析相比较,MLPA是一种快速、高效的分析非整倍体的产前诊断方法,具有临床应用价值。
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.
出处
《分子诊断与治疗杂志》
2011年第5期312-317,共6页
Journal of Molecular Diagnostics and Therapy
