Gene identification in familial orofacial clefts by next generation sequencing of exomes and p63 regulatory elements

唇腭裂(CL/P)是最常见的畸形疾病之一，但其病因尚不清楚。我们知道某些人的CL/P是由基因突变引起的。我们还表明，p63基因可能通过附着在CL/P相关基因附近的调控元件来影响这些基因的活性水平。由p63控制的未知基因的变化是CL/P原因的很大可能性。我们将通过下一代测序来测试这些变化，这是一种分析所有人类基因的技术。

Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique that analyses all human genes.