目的：通过对人类FOXL2基因突变谱研究，确定FOXL2基因突变分型及其与小睑裂综合征的相关性。方法：收集所有的突变，并对这些突变进行统计学处理并分类，进行蛋白表达谱分析，各功能区分析以及患者的临床特征与突变相关性分析。结果：根据分析，将FOXL2基因突变分为10型，各分型与小睑裂综合征患者的临床特征关系各不相同。单纯性卵巢功能早衰患者及单纯性上睑下垂患者与FOXL2基因突变无密切相关性。结论：FOXL2的突变与BPES发病密切相关，多聚丙氨酸区域的丧失与Ⅰ型BPES密切相关。FOXL2的突变与单纯性POF及上睑下垂的发病关系并不密切。%Objective:To classify all mutations in the FOXL2,and get the relationship between FOXL2 mutations and BPES.Method:All mutations of FOXL2 which had been reported in families with BPES,were collected and classified,the predicted protein,the domain structure and the relationship with BPES were analyzed.Result:All the FOXL2 mutations could be subdivided into 10 classes. Different mutational classifications had different relationships between FOXL2 mutations and BPES. The FOXL2 had little correlativity with premature ovarian failure and congenital ptosis patients.Conclusion:The mutations of FOXL2 have nearly correlativity with BPES. Mutations which results in truncated protein without poly Ala tract always lead to type I BPES. The FOXL2 has little correlativity with premature ovarian failure and congenital ptosis patients.
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