4q31区域STR位点D4S413多态性与中国汉族人群非综合征型唇腭裂的关联研究

Association study between STR marker D4S413 polymorphism on 4q31 and nonsyndromic cleft lip with or without palate in Han Chinese

目的探讨4q31区域STR位点的基因多态性与中国汉族人群非综合征型唇腭裂发生的相关性。方法收集中国医学科学院整形外科医院214个非综合征型唇腭裂核心家系（患者及其父母）样本。在4号染色体4q31-q32分布10个短串联重复序列位点。采用ABI3730DNA分型仪进行短串联重复序列位点的基因分型。分别采用Mendel和FBAT两种软件进行传递不平衡检验分析。结果采用Men-del软件进行传递不平衡检验分析，短串联重复序列位点D4S413与中国汉族人群非综合征型唇腭裂有相关性（P=0．0372），采用FBAT软件进行传递不平衡检验分析发现，短串联重复序列位点D4S413的与中国汉族人群非综合征型唇腭裂有相关性（P=0．01974），等位基因297过传递。但经过多重检验校正后，P〉0．05。结论4q31区域短串联重复序列位点D4S413可能与中国汉族人群非综合征型唇腭裂关联，但需要大样本量进行验证。

Objective To explore the association between D4S413 polymorphism on 4q31 and nonsyndromic cleft lip with or without palate in Chinese Han people. Methods We collected 214 NSCLP ease-parent trios recruited through CL/P treatment center in Plastic Surgery Hospital, Chinese Academy of Medical Sciences. 10 STR markers were selected on 4q31-q32. STR markers were genotyped by ABI 3730 DNA analyzer. The transmission disequilibrium test （TDT） was analyzed using two programs, Mendel and the family-based as- sociation test （FBAT）. Results Analyzed by Mendel, we founded significant association between the disease status and STR marker D4S413 （ P = 0. 0372 ）. Analyzed by FBAT, we founded most-significant association between the disease status and STR marker D4S413 （ P= 0.01974）. Allele 297 was more frequently transmitted to the affected children. However, after multiple tests correction, the p-value did not touch the borderline. Conclusion Association may exist between D4S413 on 4q31 and nonsyndromic cleft lip with or without palate in Han Chinese. A large amount of samples will be included in the further study.