先天性唇腭裂是人类最常见的一种出生缺陷,新生儿发病率在1/500～1/1000之间，严重危害了人口健康和素质。近年来人们探索NSCL/P这类多基因遗传病的研究已经进入后GWAS时代。本研究应用第二代测序技术，在宁夏回族21个NSCL/P家系中（每个家系中至少有2个患者），选择表型典型的23个患者和7个正常对照进行全基因组外显子测序，应用NCBI、dbSNP 、1000G、HapMap等数据库和相关软件对测序的结果进行生物信息学分析，筛选出致病的候选变异体（SNPs，Indels）和基因。然后首先在21个家系内小样本中用Sanger测序法验证，再在600对独立散发大样本中，用微测序法检测SNPs，荧光定量PCR、多重连接探针扩增法(MLPA)以及FISH的方法多重验证，探索发现NSCL/P的致病基因。探讨宁夏回族人群中与NSCL/P致病的相关突变和基因。

Cleft lip with or without cleft palate is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. To date, well-designed genome-wide association studies (GWAS) of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) have been conducted extensively. The aim of our study is to identify the causal genes of NSCL/P by exome sequencing in Ningxia hui NSCL/P families and to investigate the contribution of SNP and INDEL to the genetic susceptibility of NSCL/P and identifiy additional association with the disease. There are 21 hui NSCL/P families which have 23 patients (the most representative and phenotype serverity patient samples) and 7 normal controls were enrolled in this study. We performed exome capture by Agilent SureSelect Human All Exon Kit followed by massively parallel sequencing (Hiseq 2000) in these cases, and following validation on candidate genes by targeted sequencing with minisequencing and quantitative Real-time PCR in others cases and normal controls of hui population. We hope the results will help us to gain a better understanding on both NSCL/P in the clinical and genetic aspects in hui population.