Chae Soo-Cheon, Yoon Kwon-Ha, Chung Hun-Taeg
Genomic Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan, 570-749, Chonbuk, Korea.
Department of Radiology, Wonkwang University School of Medicine, Iksan, 570-749, Chonbuk, Korea.
J Hum Genet. 2003;48(5):278-281. doi: 10.1007/s10038-003-0019-1. Epub 2003 Apr 15.
Adam33 is a member of a family of genes that encode membrane-anchored proteins with a disintegrin and a metalloprotease domain and that are primarily expressed in lung fibroblasts and bronchial smooth muscle. The human Adam33 gene is located on chromosome 20p13, a region that has been linked to asthma and bronchial hyperresponsiveness. Recently, the polymorphisms in Adam33 have been found to be associated with asthma. In this study, we performed polymorphism scanning of the entire genomic region, including the promoter region of Adam33, by direct sequencing. We identified 16 novel polymorphisms in the Adam33 gene. Among these novel polymorphisms, three polymorphisms (-2154G-->A, -753T-->A, and -330C-->T) were found to be in the promoter region and one polymorphism (13491 G-->A) was located in 3' untranslated region of the Adam33 gene.
Adam33是一个基因家族的成员，该家族编码具有解整合素和金属蛋白酶结构域的膜锚定蛋白，主要在肺成纤维细胞和支气管平滑肌中表达。人类Adam33基因位于20号染色体p13区域，该区域与哮喘和支气管高反应性有关。最近，发现Adam33基因的多态性与哮喘相关。在本研究中，我们通过直接测序对包括Adam33启动子区域在内的整个基因组区域进行了多态性扫描。我们在Adam33基因中鉴定出16个新的多态性。在这些新的多态性中，发现三个多态性（-2154G→A、-753T→A和-330C→T）位于启动子区域，一个多态性（13491G→A）位于Adam33基因的3'非翻译区。
