干扰素调节因子-6 基因与非综合征性唇腭裂与关系.docVIP

干扰素调节因子-6基因与非综合征性唇腭裂的关系* 杨明1 洪玉3Δ、谢金敏2 （1 石河子大学医学院 石河子 832000 ； 2 中国人民解放军第四七四医院普外科 乌鲁木齐 830002； 3新疆医科大学基础医学院生物学教研室 乌鲁木齐 830002） 摘要：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 or without 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。 Relation between Interferon Regulatory Factor -6 and Nonsyndromic Cleft Lip with or without Cleft Palate YANG ming1 , HONG yu3Δ ,XIE Jin-min2 （1 The medical institute of ShiHeZi University ShiHeZi 832000; 2 Department of General Surgery, the 474 Hospital of Chinese PLA Urumqi 830002; 3 Biology department of basic medical institute, Xinjiang Medical University Urumqi 830002） Abstract： 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 through experimental studies who draw the opposite conclusion, 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 ,it requires a large sample of studies to confirm.IRF6 gene and NSCL/P relationship are reviewed to provide a systematic reference for the study of the relationship between the two. Key words：Interferon regulatory factor 6;Gene site; Nonsyndromic cleft lip with or without cleft palate *基金项目：国家自然科学基金项目（基金号 作者简介：杨明（1982-），男，在读研究生，主要研究方向：生物遗传与器官移植。 电话：