Liu Q J, Gong Y Q, Chen B X, Guo C H, Li J X, Guo Y S
Department of Medical Genetics, Shandong University, School of Medicine, Jinan 250012, China.
Yi Chuan Xue Bao. 2001 Nov;28(11):985-90.
To determine the role of GRIA3 in the etiology of Smith--Fineman--Myers syndrome (SFMS), polymorphic short tandem repeats within GRIA3 gene were genotyped by PCR and denaturing polyacrylamide gel electrophoresis to test linkage between GRIA3 and the gene responsible for SFMS. The open reading frame of GRIA3 was detected for mutation by PCR amplification and direct sequencing in affected and normal males from SFMS family. One of the two short tandem repeats was informative in SFMS family. Tight linkage between SFMS locus and GRIA3 gene was established by STR3 within GRIA3 gene. No disease--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.
为确定GRIA3在史密斯 - 法恩曼 - 迈尔斯综合征（SFMS）病因学中的作用，通过聚合酶链反应（PCR）和变性聚丙烯酰胺凝胶电泳对GRIA3基因内的多态性短串联重复序列进行基因分型，以检测GRIA3与导致SFMS的基因之间的连锁关系。通过PCR扩增和直接测序，在SFMS家族的患病男性和正常男性中检测GRIA3的开放阅读框是否存在突变。两个短串联重复序列之一在SFMS家族中具有信息性。通过GRIA3基因内的STR3建立了SFMS基因座与GRIA3基因之间的紧密连锁关系。在GRIA3基因的开放阅读框内未发现致病突变。来自中国山东的SFMS家族中的疾病不是由GRIA3基因开放阅读框内的突变引起的。
