【摘要】 目的:探讨GPC4基因与中国山东Smith-Fineman-Myers综合征(SFMS)的关系,并分析SFMS患者GPC4基因突变。方法:利用primer3设计扩增GPC4全部编码序列及内含子和外显子接头序列的引物,采用PCR扩增结合PCR产物直接测序方法检测GPC4基因开放性阅读框架区域基因突变。结果:在GPC4基因开放性阅读框架区域内并未检测到导致疾病的基因突变。结论:山东SFMS家系患者不是由于GPC4基因编码区域基因突变所致。更多还原

【Abstract】 Objective: To determine the role of GPC4 in the etiology of Smith-Fineman-Myers syndrome (SFMS) from Shandong(China). Methods: All the primers used for amplifying the ORF and splice junction of GPC4 were designed by using primer3 software. The open reading frame of GPC4 was detected for mutation by PCR amplification and direct sequencing in affected males from SFMS family. Results: No disease-causing mutation was found within the open reading frame of GPC4 gene. Conclusion: The disease in SFMS family from Shandong (China) is not caused by the mutation within open reading frame of GPC4 gene.更多还原