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目的:探讨中国北方人群甲状腺腺瘤相关基因(THADA)rs7590268、rs13035011和rs6729902位点单核苷酸多态性(SNPs)与非综合征性唇腭裂(NSCL/P)的相关性。方法:应用聚合酶链式反应-连接酶检测反应(PCR-LDR)检测方法,在335例NSCL/P患者和525例健康体检者中,对THADA基因的rs7590268、rs13035011和rs6729902位点进行检测。结果:rs7590268和rs6729902多态性位点等位基因频率在唇裂组与对照组间的分布差异有统计学意义(P<0.05),rs13035011位点基因型及等位基因频率在病例组和对照组间的分布差异无统计学意义。结论:THADA基因的rs7590268和rs6729902位点单核苷酸多态性可能与中国北方人群非综合征性唇腭裂的发生相关。
Objective: To investigate the association between single nucleotide polymorphisms (SNPs) of rs7590268, rs13035011 and rs6729902 sites in non-syndromic cleft lip and palate (NSCL / P) in thyroid adenoma-associated gene (THADA) Methods: PCR-LDR was used to detect rs7590268, rs13035011 and rs6729902 of THADA gene in 335 patients with NSCL / P and 525 healthy subjects. Results: The frequencies of rs7590268 and rs6729902 alleles were significantly different between the cleft lip group and the control group (P <0.05). The genotype and allele frequencies of rs13035011 in the cases and controls No significant difference between the distribution. Conclusion: Single nucleotide polymorphisms of rs7590268 and rs6729902 in THADA gene may be associated with non-syndromic cleft lip and palate in northern Chinese population.