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先天性心脏病遗传病因及检测方法研究进展

Progress of genetic etiology and detection method in congenital heart disease
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摘要 先天性心脏病的病因主要有遗传因素、环境因素和母亲因素。其遗传因素包括染色体异常、单基因缺陷和多基因缺陷。先天性心脏病遗传学检测方法近年有了飞速发展,包括染色体核型分析、荧光原位杂交、荧光定量PCR、多重连接依赖探针扩增等。 The etiology of congenital heart disease (CHD)incluses genetic factors, environmental factors and maternal factors. The genetic etiology of CHD includes chromosomal abnormalities, single gene defects and multiple genetic defects. The genetic testing method of CHD has made great progress in karyotype analysis, fluorescence in situ hybridization, quantitative PCR, multiplex ligation dependent probe amplification, et at.
出处 《国际儿科学杂志》 2011年第2期188-191,共4页 International Journal of Pediatrics
关键词 先天性心脏病 基因 PCR 比较基因组杂交 Congenital heart disease Gene PCR Comparative genomic hybridization
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