TBX22基因多态性与非综合征性唇腭裂相关关系的研究

目的：探讨TBX22基因多态性与中国华东地区部分人群非综合性征唇腭裂的关系。方法：选取80个核心家庭的80例NSCL/P患儿为实验组;选取80例正常儿童作为对照组。分别提取患儿及其父母和正常儿童的外周血DNA。应用聚合酶链式反应（polymerase chain reaction,PCR）分别扩增TBX22基因编码区外显子3的全部序列（包含G359A、A361G突变位点）,然后运用DNA测序技术,检测华东地区核心家庭的TBX22基因编码区的突变情况,分析记录基因型。根据测序所得基因型数据,比较患者组与正常儿童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（haplotype relative risk,HRR）,对父母至少一方为杂合子的核心家庭进行传递不平衡检验（transmitted disequilibrium test,TDT）。结果：TBX22基因A361G未检出多态性;G359A检测出基因多态性,实验组和对照组儿童进行病例对照研究发现基因型频数分布差异有统计学意义（P〈0.05）。而两组间单体型相对风险率的分析（HRR）和传递不平衡检验（TDT）结果均无统计学意义（P〉0.05）。结论：TBX22基因G359A位点多态性与中国华东地区部分人群NSCL/P的发生相关,可能是NSCL/P的易感基因。

Relationship between genetic polymorphism of TBX22 and nonsyndromic cleft lip with or without cleft palate in Chinese Patients

Objective The relationship between nonsyndromic cleft lip with or without cleft palate（NSCL/P）and genetic polymorphism of TBX22 in Chinese population were explored.Methods Eighty NSCL/P cases-parent trio were selected as the case group.Meanwhile,80 unimpaired children were selected as the control group.Case-control study design was employed.TBX22 gene,the fragments including G359A、A361G（in exon 3 of TBX22 gene）were amplified by PCR,then the PCR products were directly sequenced to detect the polymorphism and the genetype.The comparison of genetype and allele frequency was made between the patients with NSCL/P and control subjects.Haplotype Relative Risk（HRR） and Transmission Disequilibrium Test（TDT） of involved family were also analyzed.Results There was no genetic polymorphism in A361G,but genetic polymorphism was detected in G359A.The genotype frequency of case-control study showed that there was significant association between TBX22 variant and the risk of NSCLP.The difference of HRR and TDT between the two groups had no significant results.Conclusion There may have some correlativity between the genetic polymorphism of TBX22 G359A and the pathogenesis of NSCL/P in population of southeast China,and TBX22 G359A might be the susceptibility gene and the susceptibility locus.