摘要
目的研究Van der Woude综合征(Van der Woude syndrome,VWS)干扰素调节因子6(interferonregulatoryfactor6,IRF6)基因突变。方法提取3个VWS家系成员基因组DNA,聚合酶链反应扩增IRF6基因9个外显子及其侧翼内含子序列,直接测序对患者IRF6基因进行突变的检测。结果在3个家系患者IRF6基因中共发现国际上尚未报道的3个突变无义突变981(T→A)(Cys327X)和1234(C→T)(Arg412X);错义突变1214(T→C)(Met405Thr)。结论IRF6基因突变可能是VWS发病原因。
Objective To identify mutations of interferon regulatory factor 6 （ IRF6 ） gene in Van der Woude syndrome （VWS） patients in China. Methods Three Chinese VWS families were screened to IRF6 gene mutation via PCR and sequence techniques. After amplification of exons 1-8 and their flanking splice junctions and part of exon 9 of the IRF6 gene by polymerase chain reaction, mutations were detected by direct sequencing. Results Three novel mutations, one in each family, were identified in all the affected members in the three families. There were one missense mutation 1214（T→C） in exon 9, two nonsense mutations 981（T→A） in exon 7 and 1234（C→T） in exon 9. All affected members of the three families were heterozygous for their respective mutation. Conclusion Mutations in IRF6 gene were found in all VWS patients. This observation supports the hypothesis that IRF6 is the gene responsible for VWS across different populations.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2006年第1期82-83,共2页
Chinese Journal of Medical Genetics
基金
教育部优秀青年教师资助计划项目(20024004)
高校青年教师教学科研奖励计划(2003682)~~
