Sekiguchi H, Minaguchi K, Machida Y, Yakushiji M
Department of Pediatric Dentistry, Tokyo Dental College, Chiba, Japan.
Bull Tokyo Dent Coll. 1998 Nov;39(4):275-85.
Amelogenesis imperfecta (AI) is a disease in which there is a defect in the formation of the tooth enamel of deciduous and permanent teeth. In an attempt to clarify the genetic abnormality in patients with amelogenesis imperfecta, we have been investigating their amelogenin gene. In this study, we have determined the nucleotide sequences of regions of the intron 1 and intron 2 of the X and Y human amelogenin genes (AMGX, AMGY) for the first time, and established a polymerase chain reaction (PCR) protocol to amplify six exons of AMGX and AMGY for the diagnosis of amelogenesis imperfecta, because previous studies have shown that some of the AI patients have such mutations. This study gives us an easy and fast method to analyze protein encoding regions of the amelogenin genes. The applications of this method will give us better insight into classifying AI, followed by understanding of the cause of the disease.
釉质发育不全（AI）是一种乳牙和恒牙牙釉质形成存在缺陷的疾病。为了阐明釉质发育不全患者的基因异常，我们一直在研究他们的釉原蛋白基因。在本研究中，我们首次确定了人类X和Y釉原蛋白基因（AMGX、AMGY）内含子1和内含子2区域的核苷酸序列，并建立了一种聚合酶链反应（PCR）方案，用于扩增AMGX和AMGY的六个外显子，以诊断釉质发育不全，因为先前的研究表明，一些AI患者存在此类突变。这项研究为我们提供了一种简单快速的方法来分析釉原蛋白基因的蛋白质编码区域。该方法的应用将使我们能更好地对AI进行分类，进而了解该疾病的病因。
