【摘要】 目的探讨中国部分地区人群非综合征型唇裂伴或不伴腭裂(nsCL/P)与转化生长因子β3基因CA重复序列多态性之间的关系。方法采用PCR-单链构象多态性方法,对170个nsCL/P核心家庭成员DNA标本进行TGFβ3 CA重复序列多态性的检测。利用传递不平衡检验(TDT)、基于单体型的单体型相对危险度检验(HHRR)和运用家系为基础的相关性检验(FBAT)检验分析该突变与nsCL/P发生之间的关系。结果TDT(OR=1.38,95%CI0.93～2.06)和HHRR(OR=1.31,95%CI0.93～1.84)检验发现,TGFβ3 CA重复序列多态性与nsCL/P发生之间的关联不具有统计学意义(P>0.05),但是FBAT检验发现在显性和隐性模型中,TGFβ3基因多态性与nsCL/P发病危险之间的关联具有统计学意义(P<0.05)。结论TGFβ3 CA重复序列多态性可能是中国部分地区人群发生nsCL/P的危险因素,但还有待于扩大样本量进一步加以验证。更多还原

【Abstract】 Objective To investigate the association between transforming growth factor β3 gene(TGFβ3) CA repeat variant and nonsyndromic cleft lip with or without cleft palate(nsCL/P) in Chinese newborns.Methods TGFβ3 CA variant was detected using PCR-SSCP for DNA samples from 170 triads with nsCL/P affected children.We performed the Transmission/disequilibrium test(TDT),Haplotype-Based Haplotype Relative Risk(HHRR) and the family-based association study(FBAT) to test the associations between this variant and risk of nsCL/P.Results Although no significant distortion of A allele at TGFβ3 CA variant in nsCL/P families was found using TDT(OR=1.38,95 %CI 0.93~2.06) and HHRR(OR=1.31,95 %CI 0.93~1.84) analysis(P>0.05),a significant association was detected between the TGFβ3 CA variant and their risk of having nsCL/P under FBAT models.Conclusion TGFβ3 CA variant may be a risk factor for nsCL/P in Chinese newborns,but further research is warranted with a larger sample size.更多还原