摘要
目的:探讨优化现有荧光原位杂交(FISH)技术用于产前诊断唐氏综合征及其单细胞植入前遗传学诊断(PGD)的临床应用价值。方法:应用21号和X染色体特异性荧光素标记的双色混合探针对正常人体标本和25例唐氏综合征患儿外周血以及10例血清筛查阳性孕妇羊水进行FISH分析,同步进行羊水细胞培养,行常规细胞染色体核型分析,并以核型分析结果为金标准,建立一套稳定的FISH方法。在常规体外受精-胚胎移植(IVF-ET)技术方法基础上,用该方法分别对13例未受精卵、卵裂球进行唐氏综合征遗传学诊断。结果:正常羊水间期细胞和拟诊唐氏综合征羊水间期细胞经FISH分析,结果与染色体核型分析的结果一致,符合率100%。结论:建立的FISH方法具有快速、简便、准确性高、特异性强的特点,是快速进行产前唐氏综合征筛查及扩大PGD技术应用的简易可靠技术,有很好的临床应用价值。
Objective： To optimize and evaluate the value of fluorescence in situ hybridization（FISH） for the prenatal diagnosis and preimplantation genetic diagnosis（ PGD）of Down Syndrome. Methods：FISH with two -color fluorescence -labeled 21 and X chromosomes probes was conducted to analyze normal samples, peripheral blood samples of 25 children with Down syndrome and amniotic fluid samples of 10 pregnant women （positive for serum screening）. The result of cell culture for karyotype analysis was used as the gold standard for evaluation of the result of FISH. Thirteen unfertilized eggs and blastomeres ob- tained from conventional in vitro fertilization and embryo transfer （IVF -ET） were detected by FISH for PGD. Results： FISH results showed consistent with those of karyotype analysis. The concordance rate was 100%. Preliminary results of FISH in PGD were obtained. Conclusion： The establish technique of FISH is a rapid, simple, high accuracy and suitable method for prenatal diagnosis and PGD of Down syndrome.
出处
《中国计划生育学杂志》
北大核心
2011年第9期556-559,共4页
Chinese Journal of Family Planning
基金
广东省科技计划项目(编号330501
2008A030201018
2009A030301002)
关键词
荧光原位杂交
唐氏综合征
产前诊断
染色体核型分析
植入前遗传学诊断
Fluorescence in situ hybridization
Down syndrome
Prenatal diagnosis
Karyotype analysis
Pre - implantation genetic diagnosis
