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BACKGROUND:There are few genetic data related to nonsyndromic cleft lip and palate in Xinjiang Uygur population. OBJECTIVE:To investigate the relationship between interferon regulatory factor 6 (IRF6) and non-syndromic cleft lip and palate in Xinjiang Uygur population. METHODS:A total of 100 Uyghur patients with non-syndromic cleft lip and palate from Xinjiang were included as case group, and meanwhile, 60 children with upper respiratory infection were enrol ed as controls. Next-generation sequencing was used to detect coding region, 5’UTR and 500 bp before exon1 of IRF6 gene, and sequencing results were compared with the information on the genome database. RESULTS AND CONCLUSION:Eleven high-frequency SNPs were found:rs861019, rs7552506, rs2235377, rs2235371, rs2013162, rs7545538, rs7545542, rs12403006, rs846808, rs34743335, rs2235373. The frequencies of al eles of loci rs7545538 (C>G, P=0.007), rs7545542 (C>T, P=0.044) and rs2235373 (G>A, P=0.049) were significantly different in the case group and control group;the genotype distribution of rs7545538 showed significant difference between the case group and control group (P=0.037);the genotype distribution and the frequency of al eles of other loci had no significant difference between the case group and control group (P>0.05). Two blocks were identified in the 11 high-frequency SNPs. There were four common haploid types in Block 1:CCGGT>CCGAT>CACAT>TAGAC, and the most significant single type was CCGAT (P=0.032). There were three common haploid types in Block 2:TAC>ATG>TAG, and the most significant single types were TAC (P=0.009) and TAG (P=0.003). These findings indicate that IRF6 gene polymorphisms are probably associated with the occurrence of non-syndromic cleft lip and palate in Xinjiang Uygur population.
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Objective:To study the association between rs2235371,rs2013162,rs2235377 SNPs in interferon regulatory factor 6 (IRF6)gene and non-syndromic cleft lip with or without cleft palate(NSCL/P)in Xinjiang Uyghur population.Methods:100 Uyghur NSCL/P patients from Xinjiang were included in the case group and 60 Uyghur inpatients with upper respiratory tract infection were se-lected in the control group.Next,generation sequencing was used,DNA sequencing results were compared with the information on the genome database and genetic analysis were made.Results:There were no significant differences in the frequency distribution of both genotypes and alles when the cases were campared with the controls at the rs2235371,rs2013162 and rs2235377 loci(P >0.05). Above three loci were located in the same block,rs2235371 and rs2235377 loci presents the strong linkage disequilibrium(r2 =0.949, D'=0.974).Possible haplotypes were:CCT >CAT >TAC,and there was no significant difference between the cases and controls in haplotype distribution(P >0.05).Conclusion:Polymorphisms of rs2235371,rs2013162 and rs2235377 in IRF6 gene may be associ-ated with NSCL/P in Xinjiang Uygur people.
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Objective To reconstruct the oral and maxillofacial defects with the radial forearm flaps. Methods 12 patients suffered from the oral and maxillofacial soft tissue defects caused by various reasons had undergone the reconstruction by microsurgical techniques to implant the free radial forearm flaps for repair of the defects. Assessment was given to the results of the reconstructions of the oral and maxillofacial defects. Results The appearance, plump and countenance functions of the maxillofacial region were regained. The oral functions were improved obviously. 11 of 12 patients’ defects (91.66%) were reconstructed successfully. Conclusion The radial forearm flap is an excellent option especially for the repair and reconstruction of the oral and maxillofacial multiple-angle, irregular and complicated defects.
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Objective To study the reconstruction of lip defects by using lingual membrane flaps. Methods 11 cases were presented, whose lip defects were extensively or partially. According to the size of defects, bilateral and lateral lingual membrane flaps were transfered to cover the defects to rebuild the lip contour, and then the posteriors were cut 2 weeks later. The repair of lip defects were done after the cover of region outside of lip in 4 patients who had composite defects. 4 patients underwent bilateral lingual membrane flap for repair of lip defects over 1/2 width of lip. 7 patients whose lip defects were less than 1/2 width of lip underwent lateral lingual membrane flap for repair. Results all the flaps were survival. The contour, color and function of lips were reconstructed well. The feeling, taste and movement of the tongue were normal. Conclusion Using lingual membrane flap to close the large defect of lip requires only one operation, especially in the defect repair with bilateral lingual membrane flaps. The flaps can not only rebuild the lip color and contour, but also remain enough tongue papilla in order to ensure the tongue taste after the operation. The excision in the tongue is hidden and tongue's function and contour can be little affected.