唐氏综合征产前基因诊断的初步研究

目的:探讨应用21号染色体上D21S1411和D21S1413 STR基因座进行唐氏综合征基因诊断及产前基因诊断的可行性。方法:采用PCR复合扩增体系对34例细胞遗传学确诊的唐氏综合征患者和65例羊水标本、60例绒毛标本进行基因诊断,将基因诊断结果与细胞遗传学结果进行比较。结果:34例唐氏综合征患者基因诊断率为85.3%。65例羊水标本中检测出1例唐氏综合征胎儿;60例绒毛标本基因诊断未发现唐氏综合征胎儿,但染色体核型分析发现1例易位且有嵌合的唐氏综合征胎儿。结论:D21S1411和D21S1413 STR基因座复合扩增体系可以快速、简便地进行唐氏综合征的基因诊断及产前基因诊断。

Primary Study on Prenatal Molecular Diagnosis of Down Syndrome

Objective: To investigate the feasibility of PCR amplification of two STR loci D21S1411 and D21S1413 located on chromosome 21 for molecular diagnosis and prenatal molecular diagnosis of Down syndrome. Methods: A multiplex PCR involving D21S1411 and D21S1413 loci was used. Thirty-four Down syndrome patients who had been diagnosed by cytogenetic analysis,65 amniotic fluid samples and 60 chorionic villus samples were analyzed using this method,and the results were compared with the cytogenetic analysis. Results: Eighty-five point three percent patients of 34 Down syndrome had been diagnosed. Among 65 amniotic fluid samples,1 sample was diagnosed as Down syndrome. The results coincided with the results of cytogenetics. No patient had been detected among 60 chorionic villus samples using molecular technique,while 1 Down syndrome patient was detected by cytogenetic analysis. Conclusion: A multiplex PCR system of D21S1411 and D21S1413 can be used for molecular diagnosis and prenatal molecular diagnosis of Down syndrome rapidly and simply.