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目的通过非综合征型唇腭裂(NSCLP)全基因组连锁研究,进一步确定NSCLP遗传易感基因的染色体区域定位。方法运用基因组扫描Meta分析(GSMA)方法对截止到2008年12月的NSCLP全基因组连锁研究的文献进行分析。结果纳入文献10篇,共255个家系,632个病例。片段1.2(1p36.23-1p35.3)在未经加权(SR=850,PSR=0.0079)及加权分析中(SR=896,PSR=0.0081)的PSR均达到基因组水平的建议性连锁;另有位于染色体1、2、6、11、16和17上的9个片段在未经加权或加权分析中显示名义性连锁,即PSR<0.05。结论基因组范围建议性连锁的染色体区域1p36.23-1p35.3可能存在NSCLP的易感基因,需要进一步通过连锁研究、关联研究和功能性研究来进行验证。
Objective To further determine the chromosomal location of the genetic susceptibility gene of NSCLP by genome-wide linkage study of non-syndromic cleft lip and palate (NSCLP). Methods Genomic scanning Meta analysis (GSMA) was used to analyze the literature of the NSCLP genome-wide linkage study as of December 2008. Results included in the literature 10, a total of 255 pedigrees, 632 cases. The PSR of fragment 1.2 (1p36.23-1p35.3) reached genome-level suggestive linkage in unweighted (SR = 850, PSR = 0.0079) and in weighted analysis (SR = 896, PSR = 0.0081) The nine fragments on chromosomes 1, 2, 6, 11, 16 and 17 showed a nominal linkage in the unweighted or weighted analysis, ie PSR <0.05. Conclusions There may be NSCLP susceptible genes in 1p36.23-1p35.3, a genome-wide suggested linkage region, which needs to be further verified by linkage studies, association studies and functional studies.