实用口腔医学杂志
實用口腔醫學雜誌
실용구강의학잡지
JOURNAL OF PRACTICAL STOMATOLOGY
2010年
2期
227-231
,共5页
黄永清%马敏%马坚%李亚娣%李迎春%王珑%高军%张雷%乔光伟%石冰
黃永清%馬敏%馬堅%李亞娣%李迎春%王瓏%高軍%張雷%喬光偉%石冰
황영청%마민%마견%리아제%리영춘%왕롱%고군%장뢰%교광위%석빙
非综合征型唇腭裂(NSCL/P)%干扰素调节因子6(IRF6)%单核苷酸多态性(SNP)
非綜閤徵型脣腭裂(NSCL/P)%榦擾素調節因子6(IRF6)%單覈苷痠多態性(SNP)
비종합정형진악렬(NSCL/P)%간우소조절인자6(IRF6)%단핵감산다태성(SNP)
Non-syndromic cleft lip with or without palate(NSCL/P)%Interferon regulatory factor 6(IRF6)%Single nucleotide polymorphism (SNP)
目的:探讨干扰素调节因子6 (IRF6) 基因rs2013162 和 rs2235375位点单核苷酸多态性(SNPs)与非综合征型唇腭裂的相关性.方法:收集病例组非综合征型唇腭裂患儿332 例,患者父亲243 例,患者母亲289 例,完整的核心家庭206个.对照组收集正常新生儿174 例.采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测IRF6基因这2 个多态位点基因型,进行病例对照和传递不平衡(TDT)分析.结果:在中国西部人群中,与正常对照组比较,唇腭裂组rs2235375位点的基因型和等位基因的频率存在统计学差异(均P<0.01).运用传递不平衡研究发现IRF6基因rs2235375位点的G等位基因在唇腭裂患者中存在过传递(P<0.01).有5 种单倍型组合显示有传递不平衡.结论:在中国西部人群中IRF6基因多态性与非综合征型唇腭裂的发生存在强的相关性.
目的:探討榦擾素調節因子6 (IRF6) 基因rs2013162 和 rs2235375位點單覈苷痠多態性(SNPs)與非綜閤徵型脣腭裂的相關性.方法:收集病例組非綜閤徵型脣腭裂患兒332 例,患者父親243 例,患者母親289 例,完整的覈心傢庭206箇.對照組收集正常新生兒174 例.採用聚閤酶鏈反應-限製性片段長度多態性(PCR-RFLP)方法檢測IRF6基因這2 箇多態位點基因型,進行病例對照和傳遞不平衡(TDT)分析.結果:在中國西部人群中,與正常對照組比較,脣腭裂組rs2235375位點的基因型和等位基因的頻率存在統計學差異(均P<0.01).運用傳遞不平衡研究髮現IRF6基因rs2235375位點的G等位基因在脣腭裂患者中存在過傳遞(P<0.01).有5 種單倍型組閤顯示有傳遞不平衡.結論:在中國西部人群中IRF6基因多態性與非綜閤徵型脣腭裂的髮生存在彊的相關性.
목적:탐토간우소조절인자6 (IRF6) 기인rs2013162 화 rs2235375위점단핵감산다태성(SNPs)여비종합정형진악렬적상관성.방법:수집병례조비종합정형진악렬환인332 례,환자부친243 례,환자모친289 례,완정적핵심가정206개.대조조수집정상신생인174 례.채용취합매련반응-한제성편단장도다태성(PCR-RFLP)방법검측IRF6기인저2 개다태위점기인형,진행병례대조화전체불평형(TDT)분석.결과:재중국서부인군중,여정상대조조비교,진악렬조rs2235375위점적기인형화등위기인적빈솔존재통계학차이(균P<0.01).운용전체불평형연구발현IRF6기인rs2235375위점적G등위기인재진악렬환자중존재과전체(P<0.01).유5 충단배형조합현시유전체불평형.결론:재중국서부인군중IRF6기인다태성여비종합정형진악렬적발생존재강적상관성.
Objective:To study the association between the rs2013162 and rs2235375 polymorphisms in IRF6 and risk of NSCL/P in west Chinese population. Methods: The study group consisted of 332 NSCL/P patients, their parents (289 mothers, 243 fathers and 206 complete families), and 174 controls. PCR-RFLP method was used to identify genotypes and both case-parent and case-control designs were carried out on samples from west China. Results: There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at the rs2235375(P<0.01, P<0.01 respectively). We found strong evidence of over-transmission of the G allele at rs2235375 in cleft case-parent trios(P<0.01). Five specific haplotypes showed significant over-and under-transmission. Conclusion: These results suggest IRF6 variants play a role in NSCL/P in west Chinese populations.
