分类号：R715.5
出版年·卷·期（页码）：2018·10·第4期（1-4）
DOI:
10.13470/j.cnki.cjpd.2018.04.001
-----摘要：-------------------------------------------------------------------------------------------
目的 探讨荧光PCR熔解曲线技术在地中海贫血产前诊断中的应用价值。方法 采用Gap-PCR、PCR+导流杂交和荧光PCR熔解曲线技术检测143例产前标本的地中海贫血基因，结果不一致时采用DNA测序确认。结果 143例产前标本中检出重症地贫27例，包括20例重型α-地贫和7例重型β-地贫。荧光PCR熔解曲线技术在地中海贫血基因产前诊断中符合率100%。PCR+导流杂交技术检测α-和β-地中海贫血基因与其他两种方法各有1例结果不符，经DNA测序分析是由于PCR+导流杂交技术灵敏度高，因存在低比例的母体细胞污染所致。结论 荧光PCR熔解曲线技术是一种高效、快速、准确的地中海贫血基因检测新技术，可用于地中海贫血产前诊断。地中海贫血产前诊断最好采用两种不同技术原理的方法独立检测，保证结果的准确可靠。STR技术检测母体细胞污染的低灵敏度需要警惕。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To discuss the application value of fluorescence PCR melting curve technique for prenatal diagnosis of thalassemia. Method Gap-PCR, PCR+diversion hybridization and fluorescence PCR melting curve techniques were used to detect thalassemia genes in 143 prenatal specimens. DNA sequencing was confirmed when the results were inconsistent. Results 27 cases of severe thalassaemia were detected in 143 prenatal specimens, including 20 cases severe a-thalassemia and 7 cases severe β-thalassemia. The fluorescence PCR melting curve technique in prenatal diagnosis of thalassemia coincidence rate was 100%. PCR+diversion hybridization detection of α- and β-thalassemia genes was inconsistent with one of the other two methods. DNA sequencing analysis was due to the high sensitivity of PCR+diversion hybridization technique and has low proportion of maternal cell contamination. Conclusions Fluorescence PCR melting curve technology is a efficient and rapid technique for detecting thalassemia gene which can be applied to the prenatal diagnosis of thalassemia. Prenatal diagnosis of thalassemia would be best tested independently using two different technical principles to ensure accurate and reliable results. The low sensitivity of STR technology to detect maternal cell contamination requires attention.
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马占忠,范舒舒,徐静,刘玉兰,钟延东,郭艳乐 ,肖凤金,吴平.荧光PCR熔解曲线技术在地中海贫血产前诊断中的应用.中国产前诊断杂志,2018,10(4):1-4.
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