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[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province].
Shanghai Kou Qiang Yi Xue. 2005 Jun; 14(3):234-7.SK

Abstract

PURPOSE

To investigate IRF6 gene mutation in a van Der Woude syndrome (VWS) family in Henan province.

METHODS

PCR and DNA sequencing was employed to detect the mutation of IRF6.Secondary construction transformation analysis was performed using PIX-Protein Identification software.

RESULTS

A CGC>TGC(r.279c-->t) transversion of IRF6 was identified in condon 6, showing complete segregation with the disease phenotypes and was resulting in changes of the secondary constructure of IRF6.

CONCLUSION

VWS is caused by mutations in IRF6 gene, and IRF6 is closely related to the development of lip, palate and tooth.

Authors+Show Affiliations

School of Stomatology, Fourth Military Medical University, Xi'an, China. xiaofangwang18@163.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

chi

PubMed ID

15995766

Citation

Wang, Xiao-fang, et al. "[IRF6 Gene Mutation Analysis in a Van Der Woude Syndrome Family in Henan Province]." Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, vol. 14, no. 3, 2005, pp. 234-7.
Wang XF, Xiao MZ, Shi JN, et al. [IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province]. Shanghai Kou Qiang Yi Xue. 2005;14(3):234-7.
Wang, X. F., Xiao, M. Z., Shi, J. N., Zhang, H. B., Hu, L. D., & Kong, X. Y. (2005). [IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province]. Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 14(3), 234-7.
Wang XF, et al. [IRF6 Gene Mutation Analysis in a Van Der Woude Syndrome Family in Henan Province]. Shanghai Kou Qiang Yi Xue. 2005;14(3):234-7. PubMed PMID: 15995766.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province]. AU - Wang,Xiao-fang, AU - Xiao,Ming-zhen, AU - Shi,Jun-nan, AU - Zhang,Hai-bing, AU - Hu,Lan-dian, AU - Kong,Xiang-yin, PY - 2005/7/5/pubmed PY - 2015/6/18/medline PY - 2005/7/5/entrez SP - 234 EP - 7 JF - Shanghai kou qiang yi xue = Shanghai journal of stomatology JO - Shanghai Kou Qiang Yi Xue VL - 14 IS - 3 N2 - PURPOSE: To investigate IRF6 gene mutation in a van Der Woude syndrome (VWS) family in Henan province. METHODS: PCR and DNA sequencing was employed to detect the mutation of IRF6.Secondary construction transformation analysis was performed using PIX-Protein Identification software. RESULTS: A CGC>TGC(r.279c-->t) transversion of IRF6 was identified in condon 6, showing complete segregation with the disease phenotypes and was resulting in changes of the secondary constructure of IRF6. CONCLUSION: VWS is caused by mutations in IRF6 gene, and IRF6 is closely related to the development of lip, palate and tooth. SN - 1006-7248 UR - https://www.unboundmedicine.com/medline/citation/15995766/[IRF6_gene_mutation_analysis_in_a_van_Der_Woude_syndrome_family_in_Henan_province]_ L2 - http://www.diseaseinfosearch.org/result/7346 DB - PRIME DP - Unbound Medicine ER -