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非综合征性唇腭裂部分基因SNPs研究进展 被引量:6

Progress in research on single nucleotide polymorphisms of some genes associated with nonsyndromic cleft lip with or without cleft palate
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摘要 非综合征性唇裂伴或不伴腭裂是人类最常见的先天性畸形之一,是一种遗传、环境因素及两者相互作用所致的多基因多因素遗传疾病。单核苷酸多态性是新一代遗传标记,可被用来寻找各种致病基因,目前认为单核苷酸多态性及其特定组合可能是造成以多基因多因素遗传病为代表的复杂性状疾病易感性的重要原因。 Nonsyndromic cleft lip with or without cleft palate( NSCL/P), one of the most common congenital malformations, is a complex multi-genetic and multi-factorial hereditary disease caused by genetic and environmental factors and their interactions. Single nucleotide polymorphisms (SNPs) are new generation of genetic markers and can be used to find out pathogenic virulence genes of the disease. It~ reported that SNPs and their specific combinations are important causes .for susceptibility of those diseases with complex characters represented by heredity disease caused by multiple genetic and environmental factors. In this review, we summarized progress in research on SNPs of some candidated genes associated with NSCL/P.
作者 沈亚 刘嘉茵
出处 《中国妇幼健康研究》 2007年第1期77-80,共4页 Chinese Journal of Woman and Child Health Research
关键词 非综合征性唇裂伴或不伴腭裂 基因多态性 单核苷酸多态性 出生缺陷 nonsyndromic cleft lip with or without cleft palate (NSCL/P) gene polymorphism single nucleotide polymorphisms (SNPs) birth defect
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