›› 2019, Vol. 10 ›› Issue (1): 37-42.

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Research strategy on the function of Non-coding region variations in Non-syndromic Orofacial Clefts

  

  • Received:2018-09-12 Revised:2018-11-06 Online:2019-03-25 Published:2019-04-02

Abstract: Non-syndromic cleft lip and palate is a common congenital malformation. With the development of genome-wide association research, the genetic research on non-syndromic cleft lip and palate has made a lot of achievements, and a large number of candidate mutation sites have been found. However, most of these mutations are located in the non-coding region of susceptible genes and only have statistical significance. Further functional studies are needed to verify the true pathogenicity of these mutations. At present, the research method of coding region variation of cleft lip and palate has been more mature, but because of the difference of pathogenic mechanism, this method will not be fully applicable to study the variation of non-coding region. Therefore, this paper will introduce the following functional studies of non-coding region mutation from the aspects of big data utilization, software function prediction and functional experiment in vivo and in vitro, and provide reference for more studies on non-coding region mutation of cleft lip and palate in the future.