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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 lip and palate often divided into syndromes of cleft lip and palate and non-syndromic cleft lip and palate two categories, including nonsyndromic cleft lip with or cleft lip and palate (NSCL / P) about congenital cleft lip and palate 70% -80%. Researchers at home and abroad have found that Interferon Regulatory Factor 6 (IRF6) is one of the hottest genes found to be the most valuable and related to NSCL / P pathogenicity However, some scholars still come to the opposite conclusion after experimentally studying. Therefore, the correlation between IRF6 gene and NSCL / P is different. There is a big debate about whether the former is acting on what type of heredity Are still not very clear, and need a large sample of studies to confirm. This review summarizes the relationship between IRF6 gene and NSCL / P, and provides a systematic reference for the study of the relationship between IRF6 gene and NSCL / P.