干扰素调节因子-6基因与非综合征性唇腭裂的关系

Relation between Interferon Regulatory Factor -6 and Nonsyndromic Cleft Lip with or without Cleft Palate

先天性唇腭裂常分为综合征性唇腭裂和非综合征性唇腭裂两大类,其中非综合征性唇腭裂(nonsyndromic cleft lip with orwithout cleft palate,NSCL/P)约占先天性唇腭裂的70%-80%。国内外学者在对NSCL/P相关基因进行研究后发现,干扰素调节因子6(Interferon Regulatory Factor 6,IRF6)是迄今发现最有价值的并且与NSCL/P致病有相关性的热点基因之一,但是仍有部分学者通过实验研究后得出了相反的结论,故IRF6基因与NSCL/P之间的相关性说法不一,存在较大的争论,究竟前者是通过何种遗传方式作用于后者、仍然不十分清楚,且需要大样本的研究来证实。本文就IRF6基因与NSCL/P的关系做一综述,为研究两者的关系提供系统性参考。

Congenital cleft palate are often divided into syndromic cleft lip with or without cleft palate and non-syndromic cleft lip with or without cleft palate, but nonsyndromic cleft lip with or without cleft palate accounts for about 70 %-80 % of congenital cleft lip. After domestic and foreign scholars study the NSCL/P relative genes, Interferon Regulatory Factor 6 is so far the most valuable and one of the correlation between the hot gene with pathogenic NSCL/P. But there are still some scholars draw the opposite conclusion by experimental studies, so the IRF6 gene and the statement in NSCL/P are different correlation. There is still a big controversy. Whether the former is acting on what genetic is still not very clear, which requires a large sample of studies to confirm.IRF6 gene and NSCL/P rela- tionship are reviewed to provide a systematic reference for the study of the relationship between them.