定量荧光PCR在胎儿常见染色体非整倍体产前诊断中的应用  

Application of quantitative fluorescence PCR for the prenatal diagnosis of common fetal chromosomal aneuploidies

作　　者：刘晓亮[1] 张媛媛[1] 崔婉婷[1] 何蓉[1] 赵彦艳[1] 

机构地区：[1]中国医科大学附属盛京医院临床遗传科,沈阳110004

出　　处：《中华医学遗传学杂志》2015年第5期635-640,共6页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81100187,81270343）

摘　　要：目的评估定量荧光PcR（quantitativefluorescentPCR，QF-PCR）技术在胎儿常见染色体非整倍体产前诊断中的应用。方法收集孕18~22周羊水标本2436份，针对21、18、13、性染色体上共32个多态性短串联重复序列（shorttandemrepeat，STR）位点进行多重QF—PCR扩增及毛细管电泳，所有标本同时进行染色体核型分析。结果QF-PCR检出胎儿染色体非整倍体76例（3．12％）。其中21-三体51例，18-三体12例，13-三体2例，三倍体1例，上述结果与核型分析完全一致；QF-PCR提示性染色体数目异常10例，其中9例与核型分析结果一致，1例经核型分析证实为X染色体结构异常。此外，核型分析检出染色体结构异常24例（0．99％），仅1例QF—PCR显示部分STR位点异常，提示可能存在染色体结构异常；核型分析另检出染色体数目异常嵌合体2例（0．08％），仅1例QF-PCR显示临界值，提示可能为嵌合体。结论QF—PCR可以准确的诊断21、18、13及性染色体的非整倍体改变，可以用于胎儿常见染色体非整倍体的产前快速筛查。Objective To assess the value of quantitative fluorescence PCR （QF-PCR） for the prenatal diagnosis of common fetal chromosomal aneuploidies. Methods A total of 2436 amniotic fluid samples were collected at 18 to 22 gestational weeks. Multiplex QF-PCR was performed with fluorescence- labeled primers specific for 32 polymorphic short tandem repeat （STR） sites on chromosomes 21, 18, 13, X and Y. The PCR products were assayed by capillary electrophoresis. All samples were also assayed by karyotyping. Results Seventy-six （3. 12%） samples were diagnosed as chromosomal aneuploidies by QF- PCR, among which 51 were trisomy 21, 12 were trisomy 18, 2 were trisomy 13, and 1 was triploidy. The results were all consistent with those of karyotyping. Ten samples were suspected as sex chromosomal aneuploidies, among which 9 were confirmed, except for 1 case with X structural abnormality. In addition, karyotyping has diagnosed 24 （0.99%） cases of structural abnormalities, only one of which was suspected by QF-PCR with partial abnormal STR results. Two （0. 08%） samples were found to be mosaic by karyotyping, one of which was suggested by QF-PCR with cut-off ratios of STR markers. Conclusion QF- PCR is reliable /or the diagnosis of numerical abnormalities of chromosomes 21, 18, 13, X and Y. The method can serve as an effective technique for rapid prenatal screening of common chromosome aneuploidies in fetus.

关 键 词：定量荧光PCR 短串联重复 染色体非整倍体 产前诊断 

分 类 号：R992[医药卫生—毒理学]