MTHFR基因与非综合征性唇腭裂的关系研究进展(1)
[摘要] 非综合征性唇腭裂是新生儿中的一种先天性发育畸形,其病因极其复杂。亚甲基四氢叶酸还原酶(MTHFR)基因是迄今发现的最有价值的,且与非综合征性唇腭裂发病密切相关的基因之一,不同的MTHFR基因多态位点在不同人群中与非综合征性唇腭裂的发病相关性有很大差异。本文将就此问题进行综述。[关键词] 亚甲基四氢叶酸还原酶基因;非综合征性唇腭裂;易感基因;突变
[中图分类号] R722.19 [文献标识码] A [文章编号] 1674-4721(2016)04(b)-0020-03
[Abstract] Nonsyndromic cleft lip and/or cleft palate is a birth defect,its etiology is very complicated.Methylenetetrahydrofolate reductase (MTHFR) gene is one of the strongest candidates associated with risk to nonsyndromic cleft lip and/or cleft palate,there is a significant difference in the incidence correlation of the different MTHFR loci in different populations and nonsyndromic cleft lip and/or cleft palate.This paper will review on this issue.
[Key words] Methylenetetrahydrofolate reductase gene;Nonsyndromic cleft lip and/or cleft palate;Susceptible gene;Variant
非综合征性唇腭裂是新生儿中的一种先天性发育畸形 ......
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