Detection of IRF6 gene mutations in Chinese population with non-syndromic cleft lip and/or cleft palate

China Journal of Oral and Maxillofacial Surgery ›› 2014, Vol. 12 ›› Issue (4): 333-336.

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Detection of IRF6 gene mutations in Chinese population with non-syndromic cleft lip and/or cleft palate

CHEN Jia-pei¹, NIU Zhen-min², WU Dan-dan³, YANG Yu-sheng³, HUANG Wei², CHEN Zhen-qi

1.Department of Orthodontics,Ninth people’s Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai Key Laboratory of Stomatology. Shanghai 200011;
2.Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center. Shanghai 201203;
3.Department of Oral and Craniomaxillofacial Science, Ninth People’s Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine;
Shanghai Key Laboratory of Stomatology. Shanghai 200011, China

Received:2013-12-21 Online:2014-07-10 Published:2014-08-20
Supported by:
Supported by Research Fund of Science and Technology Committee of Shanghai Municipality (124119b0103)

Abstract

Abstract: PURPOSE: To investigate interferon regulatory factor 6 gene (IRF6) mutation in Chinese non-syndromic cleft lip and/or cleft palate (NSCL/P) patients. METHODS: The peripheral blood of NSCL/P cases and control samples were collected and DNA was extracted. Exons of IRF6 gene were amplified by polymerase chain reaction. IRF6 mutations were detected using direct sequencing and compared with control samples. RESULTS: Five mutations were discovered in patients with NSCL/P, including 4 novel mutations. CONCLUSIONS: Mutation of IRF6 gene involved in the occurrence of NSCL/P in Chinese population.

Key words: Non-syndromic cleft lip and/or cleft palate, NSCL/P, Interferon regulatory factor 6 gene, IRF6, Gene mutation

CLC Number:

R783.5

CHEN Jia-pei, NIU Zhen-min, WU Dan-dan, YANG Yu-sheng, HUANG Wei, CHEN Zhen-qi. Detection of IRF6 gene mutations in Chinese population with non-syndromic cleft lip and/or cleft palate[J]. China Journal of Oral and Maxillofacial Surgery, 2014, 12(4): 333-336.

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Detection of IRF6 gene mutations in Chinese population with non-syndromic cleft lip and/or cleft palate

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