Abstract
Non-syndromic cleft lip with/without cleft palate (NSCL/P) is one of the most common birth defects in humans with an overall prevalence of one per 1000 live births. Due to genetic and environmental influences, the fusion of the lips or palate may be interrupted at any stage and cause a cleft. Over decades, dozens of susceptible genes and loci have been identified using multiple genetic approaches. Our group has collected samples of NSCL/P patients since 2008 and established the biobank. We discovered numerous susceptible loci related to the occurrence of NSCL/P in the Chinese population, such as 16p13.3, 1q32.2, 10q25.3 and 17p13.1. In addition, we performed functional studies on related loci and genes by using molecular biology, cell biology, animal models and other methods to provide a basis for the construction of the NSCL/P genetic map in the Chinese population and help to implement individualised prophylaxis and treatment. Future efforts will focus on identifying functional variants, investigating pathways and other interactions, and including phenotypic and ethnic diversity in research.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
