The present study was aimed to explore the relationship of transforming growth factor (TGF) β3 gene SfaNI polymorphism (rs3917201 locus) and non-syndromic cleft lip with or without cleft palate (NSCL/P) in people of the Uygur's Nationality and Han's in Xinjiang, China. TGFβ3 gene fragment including SfaNI was amplified and purified as the template of the primer extension reaction thenafter. The single base extension reaction was carried out using SNP specific extension primer. The products were purified and analyzed by MALDI-TOF. The test showed that there were not significantly different frequencies of AA, AG, GG genotypes and alleles between the whole NSCL/P group and the whole control group (P>0.05).Within the Uygurs or Hans, the frequencies of genotypes between the whole NSCL/P group and the whole control group were not significantly different(P>0.05). The distributions of the A, G alleles between the NSCL/P group and the control group were not significantly different within the Uygurs (P>0.05), but significant different within the Hans (P<0.05). In all the NSCL/P patients, frequencies of genotypes and alleles were not significantly different between Uygurs and Hans (P>0.05), and not significantly (P>0.05) either between Uygurs and Hans in all the healthy persons. The results proved that TGFβ3 gene SfaNI polymorphism may not be related to NSCL/P in Xinjiang Uygur people, while the occurrence of NSCL/P in Han population may be related to frequency of the A and G allele of SfaNI polymorphism.
Citation：
YANJia, XIEJinmin, HONGYu. Analysis between Transforming Growth Factor β3 Gene SfaNI Polymorphism Variant and Non-syndromic Cleft Lip with or Without Cleft Palate in People of Uygur's Nationality and Han's in Xinjiang. Journal of Biomedical Engineering, 2014, 31(1): 152-156. doi: 10.7507/1001-5515.20140030
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CARINCI F, SCAPOLI L, PALMIERI A, et al. Human genetic factors in nonsyndromic cleft lip and palate:an update[J]. Int J Pediatr Otorhinolaryngol, 2007, 71(10):1509-1519.
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VIEIRA A R, AVILA J R, DAACK-HIRSCH S, et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate[J]. PLoS Genet, 2005, 1(6):e64.
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LIDRAL A C, MURRAY J C, BUETOW K H, et al. Studies of the candidate genes TGF β2, MSX1, TGFA, and TGF β 3 in the etiology of cleft lip and palate in the Philippines[J]. Cleft Palate Craniofac J, 1997, 34(1):311-316.
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史晓泓,唐慧,梁怡.新生儿唇腭裂畸形的致病因素研究进展[J].中国妇幼保健,2006,21(7):1006-1007.
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ULUCAN K, BAYRAKTAR N, PARMAKSIZ E, et al. Transforming growth factor-β3 intron 5 polymorphism as a screening marker for non-syndromic cleft lip with or without cleft palate[J]. Mol Med Report, 2012, 6(6):1465-1467.
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SUAZO J, SANTOS J L, SCAPOLI L, et al. Association between TGF β 3 and nonsyndromic cleft lip with or without cleft palate in a chilean population[J]. Cleft Palate Craniofac J, 2010, 47(5):513-517.
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KIM M H, KIM H J, JY C, et al. Transforming growth factor-β3gene SfaNⅠpolymorphism in Korean non-syndromic cleft lip and palate patients[J]. J Biochem Mol Biol, 2003, 36(6):533-537.
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刘宁,刘嘉菌,崔毓桂,等.TGF-β 3基因SfaNI多态性与非综合性唇腭裂的遗传易感性[J].中华美容整形外科杂志,2008,19(2):152-155.
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- 1. CARINCI F, SCAPOLI L, PALMIERI A, et al. Human genetic factors in nonsyndromic cleft lip and palate:an update[J]. Int J Pediatr Otorhinolaryngol, 2007, 71(10):1509-1519.
- 2. BEATY T H, RUCZINSKI I, MURRAY J C, et al. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate[J]. Genet Epidemiol, 2011, 35(6):469-478.
- 3. LIDRAL A C, MORENO L M. Progress toward discerning the genetics of cleft lip[J]. Curr Opin Pediatr, 2005, 17(6):731-739.
- 4. VIEIRA A R, AVILA J R, DAACK-HIRSCH S, et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate[J]. PLoS Genet, 2005, 1(6):e64.
- 5. LIDRAL A C, MURRAY J C, BUETOW K H, et al. Studies of the candidate genes TGF β2, MSX1, TGFA, and TGF β 3 in the etiology of cleft lip and palate in the Philippines[J]. Cleft Palate Craniofac J, 1997, 34(1):311-316.
- 6. 史晓泓,唐慧,梁怡.新生儿唇腭裂畸形的致病因素研究进展[J].中国妇幼保健,2006,21(7):1006-1007.
- 7. ULUCAN K, BAYRAKTAR N, PARMAKSIZ E, et al. Transforming growth factor-β3 intron 5 polymorphism as a screening marker for non-syndromic cleft lip with or without cleft palate[J]. Mol Med Report, 2012, 6(6):1465-1467.
- 8. SUAZO J, SANTOS J L, SCAPOLI L, et al. Association between TGF β 3 and nonsyndromic cleft lip with or without cleft palate in a chilean population[J]. Cleft Palate Craniofac J, 2010, 47(5):513-517.
- 9. KIM M H, KIM H J, JY C, et al. Transforming growth factor-β3gene SfaNⅠpolymorphism in Korean non-syndromic cleft lip and palate patients[J]. J Biochem Mol Biol, 2003, 36(6):533-537.
- 10. 刘宁,刘嘉菌,崔毓桂,等.TGF-β 3基因SfaNI多态性与非综合性唇腭裂的遗传易感性[J].中华美容整形外科杂志,2008,19(2):152-155.
