Smith-Fineman-Myers综合征的候选基因GPC4分析  

Candidate gene analysis of Smith-Fineman-Myers syndrome

作　　者：刘奇迹[1] 龚瑶琴[1] 张锡宇[1] 高贵敏[1] 郭亦寿[1] 

机构地区：[1]山东大学医学院医学遗传学研究所,山东济南250000

出　　处：《山东大学学报（医学版）》2004年第1期29-31,共3页Journal of Shandong University:Health Sciences

基　　金：973国家重大基础研究项目2001CB510303;国家杰出青年基金资助项目(30225020)

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。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.

关 键 词：Smith—Fineman—Myers综合征 基因 GPC4 点突变 多基因族 

分 类 号：R596[医药卫生—内科学]