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目的探讨表皮生长因子启动子区多态性位点G61A与我国华东地区汉族人群非综合征型唇腭裂的相关性。方法病例组选取2008年8月—2009年5月期间在南京医科大学附属口腔医院唇腭裂外科病房住院的非综合征型唇腭裂患者139名,对照组选自同期在南京市儿童医院门诊就诊的健康儿童,无唇腭裂,无全身系统疾病或先天畸形。两组人群年龄、性别匹配。使用聚合酶链反应-限制性片段长度多态性对表皮生长因子G61A多态位点进行基因分型。结果在对照组中,3种基因型的频率分布符合Hardy-Weinberg遗传平衡定律(P=0.17)。总唇腭裂组与对照组基因型以及等位基因频率分布无显著性差异。与野生纯合子GG基因型相比,杂合突变型AG、纯合突变型AA以及总突变型(AG/AA)均与非综合征型唇腭裂的发病风险无显著性关联(AA基因型的OR=0.97,95%CI=0.42-2.22;AG基因型的OR=0.97,95%CI=0.56-1.67;AG/AA基因型的OR=0.97,95%CI=0.59-1.60)。进一步分组分析发现:AG基因型能够显著降低个体罹患腭裂的发病风险(AA基因型的OR=0.25,95%CI=0.07-0.90)。结论表皮生长因子G61A遗传变异可能是个体罹患单纯腭裂的易感因素之一。
Objective To investigate the relationship between G61A polymorphism in epidermal growth factor promoter region and nonsyndromic cleft lip and palate in Han population of East China. Methods A total of 139 patients with non-syndromic cleft lip and palate hospitalized in the Department of Stomatology, Affiliated Stomatology Hospital, Nanjing Medical University from August 2008 to May 2009 were selected in the case group. The control group was selected from outpatients in Nanjing Children’s Hospital during the same period Healthy children, no cleft lip and palate, no systemic disease or congenital malformations. Two groups of people age, gender match. Epidermal growth factor G61A polymorphism sites were genotyped using polymerase chain reaction-restriction fragment length polymorphism. Results In the control group, the frequency distribution of the three genotypes was in accordance with the Hardy-Weinberg law of genetic balance (P = 0.17). There was no significant difference in genotypes and allele frequency distribution between the total cleft lip and palate group and the control group. Compared with wild homozygous GG genotypes, heterozygous mutant AG, homozygous mutant AA and total mutant (AG / AA) had no significant association with the risk of nonsyndromic cleft lip and palate (AA genotype OR = 0.97, 95% CI = 0.42-2.22; OR for genotype AG = 0.97, 95% CI = 0.56-1.67; OR = 0.97 for AG / AA genotype = 95% CI = 0.59-1.60). Further group analysis found that: AG genotype can significantly reduce the risk of cleft palate (AA OR = 0.25, 95% CI = 0.07-0.90). Conclusion The genetic variation of epidermal growth factor G61A may be one of the predisposing factors for individuals with simple cleft palate.