Association between SNPs of MTHFR Gene and Non-syndromic Cleft Lip with or without Cleft Palate in Xinjiang Uyghur Population.

Abstract

Abstract: Objective: To study the association between SNPs of methylenetetra hydrofolate reductase (MTHFR) gene at rs1801133,rs3818762,rs1801131,rs1476413,rs1994798 and non-syndromic cleft lip with and without cleft palate in Xinjiang Uyghur population. Methods: 100 Uyghur non-syndromic cleft lip with or without palate patients from Xinjiang were included as the study group in this study and 60 child Uyghur inpatients with upper respiratory tract infection were selected as the control group. Next generation sequencing was used to sequence the target area. Sequencing results were compared with the information in the genome database and genetic analysis was also made. Results: There were no significant differences in the frequency distribution of both genotypes and allels between cleft lip patients and controls. Analysis of the linkage disequilibrium showed that all five loci were located in the same block; rs3818762 and rs1476413 loci showed strong linkage disequilibrium (r²=0.938, D’=1). Possible haplotypes were: GCTAA>GCTAG>CTGGG>GCTGG>GCGGG. Distribution of five halotypes showed no significant differences between the study group and the control group. Conclusion: There were no significant differences in the frequency distribution of both genotypes and allels when the study group was compared with the control group at the rs1801133, rs3818762, rs1801131, rs1476413, and rs1994798 loci of MTHFR gene.

CLC Number:

R782.2

KUNDEZI Du-ken, GU LI, AYIPALI Ba Wu-dong, ADILI Mo-ming.. Association between SNPs of MTHFR Gene and Non-syndromic Cleft Lip with or without Cleft Palate in Xinjiang Uyghur Population.[J]. Journal of Oral Science Research, 2015, 31(11): 1085-1088.

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