Smith-Fineman-Myers综合征与GRIA3基因的连锁和突变分析

Linkage Analysis and Mutation Detection of GRIA3 in Smith-Fineman-Myers Syndrome

探讨GRIA3基因与中国山东Smith -Fineman -Myers综合征的连锁关系 ,并分析SFMS患者GRIA3基因突变。采用PCR结合变性聚丙烯酰胺凝胶电泳方法 ,分析GRIA3基因内多态位点与致病基因之间的连锁关系 ;采用PCR扩增结合PCR产物直接测序方法检测GRIA3基因开放性阅读框架区域基因突变。GRIA3基因内多态位点分析表明 ,GRIA3基因与中国山东SFMS家系致病基因紧密连锁 ,但在该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。中国山东SFMS家系患者不是由于GRIA3基因编码区域基因突变所致。

To determine the role of GRIA3 in the etiology of Smith-Fi ne man-Myers syndrome (SFMS), polymorphic short tandem repeats within GRIA3 gen e were genotyped by PCR and denaturing polyacrylamide gel electrophoresis to tes t linkage between GRIA3 and the gene responsible for SFMS. The open reading frame of GRIA3 was detected for mutation by PCR amplification and direct seq uencing in affected and normal males from SFMS family. One of the two short tand em repeats was informative in SFMS family. Tight linkage between SFMS locus and GRIA3 gene was established by STR3 within GRIA3 gene. No d isease-causing mutation was found within the open reading frame of GRIA3 gene. The disease in SFMS family from Shandong (China) is not caused by the mutation within open reading frame of GRIA3 gene.