摘要目的 了解非综合征性唇腭裂(nonsyndromic cleft lip with cleft palate,NSCLP)遗传学改变的特征.方法 应用比较基因组杂交技术研究7例NSCLP患者基因组的不平衡即遗传物质的丢失或扩增情况.结果 6、7、10、13、14、16、20、22号染色体出现DNA拷贝数缺失.5、15、18、19号染色体发生DNA拷贝数扩增.出现高频率的DNA拷贝数缺失的染色体是13q(71.4%).结论 NSCLP患者的染色体均出现DNA拷贝数的变化,以DNA拷贝数的缺失为主,提示NSCLP的发生主要是其抑制基因丢失所造成的,13q极可能存在相关的NSCLP抑制基因.

abstractsObjective To identify the genetic alterations in nonsyndromic cleft lip and palate(NSCLP).Methods Comparative genomic hybridization was applied tO investigate the genomic imbalance(the gain or loss of genetic material)in 7 cases of NSCLP.Results It showed that the loss of chromosome DNA copies happened in chromosome 6、7、10、13、14、16、20,22 and the gain of chromosome DNA copies happened in chromosome 5、15、18、19.Conclusions 13q had a high frequence(71.4%)of chromosome loss.Conclusion Abnormal chromosome DNA copies happen in all the patients with NSCLP.Most of the patients have chromosome DNA copies loss.It suggests that loss of inhibitory gene may be related to the NSCLP.The related inhibitory gene may locate in 13q.