非综合征型唇腭裂核心家庭致病基因突变筛查

Mutation screening of pathogenic genes in nuclear family with non-syndrome cleft lip and palate

目的筛查非综合征型唇腭裂核心家庭的致病基因。方法选择非综合征型唇腭裂患者6例,采集其家系成员(患者及其父母)肘静脉血,提取基因组DNA,通过全外显子组测序技术筛查非综合征型唇腭裂核心家庭的致病基因。结果6个非综合征型唇腭裂核心家庭共采集18份外周血样本,经全外显子组测序筛查,共获得10个候选基因、11个突变位点。结论本研究获取的10个候选基因、11个突变位点可能与非综合征型唇腭裂有关。

Objective To screen out the pathogenic genes of non-syndrome cleft lip with or without cleft palate(NSCL/P)in nuclear family.Methods Six patients with NSCL/P were selected,and the elbow venous blood was collected from patients and their parents,genomic DNA was extracted,and pathogenic genes of NSCL/P nuclear family were screened by whole exon sequencing(WES).Results Eighteen peripheral blood samples were collected from 6 NSCL/P nuclear families,and a total of 10 candidate genes and 11 mutation sites were obtained through WES.Conclusion The 10 candidate genes and 11 mutation sites obtained in this study may be related to NSCL/P.