范德伍德综合征家系基因型与表型的研究  

Study on family genotype and phenotype of van der Woude syndrome

作　　者：陈丁莉[1] 李守霞[1] 焦建军[1] 郭丽丽[1] 张小芳[1] 孙彩霞[1] 要跟东[1] 

机构地区：[1]河北省邯郸市中心医院,056001

出　　处：《中国妇幼保健》2015年第1期104-107,共4页Maternal and Child Health Care of China

基　　金：河北省科技计划项目〔1427781D〕;邯郸市科学技术研究与发展计划〔1223108085〕

摘　　要：目的:探讨范德伍德综合征(VWS)家系的致病原因,从遗传学的角度阐明基因型与表型之间的关系。方法:选取2个VWS家系成员24例和正常人群200例。抽取所有研究对象外周血样本,并详细记录患者表型,采用Sanger测序法对2个VWS家系成员的干扰素调节因子-6(IRF6)基因编码区的7个外显子进行测序。结果:2个家系中共有VWS患者6例,且均存在基因突变。家系1的3例患者均携带位于第9外显子的c.1234C>T(p.R412X)杂合突变;家系2的3例患者均携带位于第9外显子的c.1210G>A(p.E404K)杂合突变,未发现其他家系成员和正常人群携带IRF6基因突变。基因检测结果显示,突变与疾病共分离,c.1234C>T和c.1210G>A分别是这2个家系的致病突变。结论:突变c.1234C>T和c.1210G>A与疾病共分离是这2个家系的致病突变,中国的VWS存在遗传异质性和临床表型复杂性。Objective： To explore the family causes of van der Woude syndrome （ VWS）, illuminate the relationship between gen- otype and phenotype from the perspective of genetics. Methods ： A total of 24 members from two VWS families and 200 normal cases were selected, their peripheral blood samples were abstracted, phenotypes of these cases were recorded, Sanger sequencing was used to detect 7 exons of interferon regulatory factor - 6 （IRF6） coding region of two VWS families. Results： Six patients had mutations of IRF6 gene in 24 family members, c. 1234C 〉 T （p. R412X） heterozygous mutation in the ninth exon was detected in 3 patients of family 1. c. 1210G 〉 A （ p. FA04K） heterozygous mutation in the ninth exon was detected in 3 patients of family 2. The other family members and normal cases were not found with IRF6 gene mutation. Genetic test showed coseparation of the disease and mutation, c. 1234C 〉 T and c. 1210G 〉 A were path- ogenic mutations of these two families. Conclusion： c. 1234C 〉 T and c. 1210G 〉 A were pathogenic mutations of these two families, genet- ic heterogeneity and complexity of clinical phenotype exist in VWS patients in China.

关 键 词：干扰素调节因子-6 范德伍德综合征 基因测序 突变 

分 类 号：R596[医药卫生—内科学]