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-  2017 

THADA基因多态性与非综合征性唇腭裂的相关性研究
Association between THADA Gene Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate.

DOI: 10.13701/j.cnki.kqyxyj.2017.02.017

Keywords: 非综合征性唇腭裂,甲状腺瘤相关基因,单核苷酸多态性,
Nonsyndromic cleft lip with or without cleft palate
,Thyroid adenoma associated ,Single nucleotide polymorphisms

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Abstract:

摘要 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

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