BMP4基因rs17563位点多态性与中国华东地区部分人群非综合征性唇腭裂的关系

摘要

Objective To explore the relationship between nonsyndromic cleft with or without cleft palate( NSCL/P) and genetic polymorphism of BMP4 rsl7563 in east China. Methods Blood samples were collected from 65 families with nonsyndromic cleft,which were divided into group of A (children with cleft) and B (parents). The control group was the normal children. The results of BMP4 rsl7563 with normal sequence provided by the Genbank were compared The case control study, Hardy-Weinberg equilibration test and Haplotype Relative Risk ( HRR), Transmission Disequilibrium Test (TDT) were performed in all case-control trials. Results The allele frequency of 65 NSCL/P cases and 65 controls were analyzed throngh case-control study(P<0. 05). No significant difference in genotypes and alleles distribution between group A and group B were found(P>0. 05). The negative results from HRR and TDT analysis were reported(P>0. 05). Conclusion The genetic polymorphism of BMP4 rsl7563 is associated with the development of NSCL/P, and the genetic polymorphism of BMP4 rsl7563 is a predisposing factor for NSCL/P in east China.%目的 探讨骨形态发生蛋白4(BMP4)基因rs17563位点多态性与中国华东地区部分人群非综合征性唇腭裂(NSCL/P)的关系.方法 收集65个唇裂核心家庭血样,分为患儿(患儿组)和患儿父母(父母组)组,另设正常儿童65例为对照组.对BMP4外显子4的rs17563位点突变碱基进行测序.比较患儿与正常儿童中的分布差异,比较患儿组与父母组的基因型和等位基因频率,并对核心家庭的数据进行单倍型相对风险分析(HRR),对含杂合子父母的核心家庭进行传递不平衡检验(TDT).结果 患儿组与对照组的基因型分布差异有统计学意义(P＜0.05).患儿组与父母组各位点基因型和等位基因分布差异无统计学意义(P＞0.05),HRR结果和TDT结果无统计学意义(P＞0.05).结论 BMP4基因rs17563位点多态性与中国华东部分人群NSCL/P存在相关性.