摘要
目的:探讨干扰素调节因子6(IRF6)基因V274I位点单核苷酸多态性(SNP)与非综合征型唇腭裂的相关性。方法:收集非综合征型唇腭裂患儿332例,患者父亲243例,患者母亲289例,核心家庭224个,对照组正常新生儿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V274I多态位点基因型,进行病例对照和传递不平衡(TDT)研究。结果:在中国西部人群中,与正常对照组比较,单纯唇裂和唇腭裂组V274I位点SNP的GG基因型和G等位基因的频率存在显著性差异(P=0.000),而在单纯腭裂组比较没有显著性差异(P=0.699)。运用传递不平衡研究发现IRF6基因V274I多态性突变的G等位基因在唇裂和唇腭裂患者中存在过传递(P=0.000)。结论:在中国西部人群中IRF6基因V274ISNP位点G等位基因与非综合征型唇腭裂存在强的相关性,而与单纯腭裂没有相关性。
Objective：To investigate the association between Interferon Regulatory Factor 6 （IRF6） gene V274I polymorphism and non-syndromie cleft lip with or without cleft palate （NSCL/P） in west Chinese population. Methods ： Blood samples from 332 NSCL/P patients, patients＇parents （289 mothers, 243 fathers and 224 nuclear family）, and 174 controls were collected. DNA was extracted and PCR-RFLP was used to identify genotypes of the samples, case-control analyses and transmission-disequilibrium test were also carried out. Results： In case-control analysis, there were significant differences in G allele and GG genotype of V274I among NSCL/P compared with the control group（ P = 0.000 ）, but no difference in cleft palate only （P= 0. 699 ）. The G allele of V274I had a strong overtransmission in NSCL/P（ P = 0. 000 ）. Conclusion ：The polymorphism of V274I in IRF6 gene is associated with NSCIJP, but not associated with cleft palate in west Chinese population.
出处
《实用口腔医学杂志》
CAS
CSCD
北大核心
2008年第3期417-421,共5页
Journal of Practical Stomatology
基金
国家自然基金项目(编号:30660198)
关键词
非综合征型唇腭裂
干扰素调节因子6
单核苷酸多态性(SNP)
Non-syndromic cleft lip with or without cleft palate
Interferon regulatory factor 6
Single nucleotide polymorphism （SNP）
