POLYMORPHISM OF TAP GENES IN GRAVES' DISEASE

总体目标是检测DNA的遗传多态 与非裔美国人无关的志愿者对照水平，在患有 格雷夫斯病及其家庭成员：扩大科学知识 关于Graves病和主要疾病的基因分布 该民族的组织相容性复合体；并激励少数人 研究生和本科生从事生物医学研究事业。 具体目的是确定TAP1和TAP2基因的多态性 在非裔美国人志愿者控制和格雷夫斯病范围内 对与Graves病相关的TAP1和TAP2等位基因进行测序 疾病患者；培训学生基本和复杂的分子 使用动手实验室设备的基因技术，由 参加研讨会和研讨会，并通过展示研究 在科学、地方和国家会议上取得的成果。假设是这样的 这个民族特有的遗传多态存在于 TAP区基因。人类白细胞抗原与Graves病的关系一直是 报告了第I类和第II类抗原。这项研究将增加 关于它是否是1类的知识池并定义边界 决定主要组织相容性复合体内的区域的 对格雷夫斯病的易感性。有新的等位基因有待检测。 与抗原处理(TAP)基因相关的转运体有 多态和运输抗原肽的功能 人类白细胞抗原I类分子。TAP1和TAP2参与限制性抗原 正在处理。I类抗原在类病毒的发育过程中可能是重要的。 II伴发疾病。使用的方法是基本的和复杂的 分子生物学的分子遗传学技术，即基于聚合酶链式反应的单个 链构象多态(SSCP)方法。聚合酶链式反应产物将 进行SSCP分析以将SSCP模式与等位基因相关联 序列变异。将进行血清学测试，以确定是否有 是针对微粒体抗原和甲状腺球蛋白的抗体。大有可为 将获得的信息将大大增加关于以下方面的知识池 TAP多态，特别是在非裔美国志愿者对照和 在Graves病患者中

The overall objectives are to detect genetic polymorphisms at the DNA level in African-American unrelated volunteer controls, in patients with Graves' Disease and their family members: to expand scientific knowledge regarding Graves' disease and the distribution of genes within the major histocompatibility complex in this ethnic group; and to motivate minority graduate and undergraduate students to pursue biomedical research careers. The specific aims are to determine polymorphism in TAP1 and TAP2 genes within African-American volunteer controls and within Graves' disease patients; to sequence alleles of TAP1 and TAP2 associated with Graves' disease patients; to train students in basic and sophisticated molecular genetic techniques by using hands-on laboratory equipment, by participating in workshops and seminars, and by presenting research results at scientific local and national meetings. The hypothesis is that genetic polymorphisms that are unique to this ethnic group are present in the TAP region genes. HLA associations with Graves' disease have been reported for both Class I and Class II antigens. This study will add to the pool of knowledge on whether it is Class 1 and define the boundaries of the region within the major histocompatibility complex that determines susceptibility to Graves' Disease. There are new alleles to be detected. Transporters associated with antigen processing (TAP) genes are polymorphic and function to transport antigenic peptides to be loaded in HLA class I molecules. TAP1 and TAP2 are involved in restricted antigen processing. Class I antigens may be important in the development of class II associated disease. methods to be used are basic and sophisticated molecular genetic techniques of molecular biology; i.e., PCR based single strand conformational polymorphism (SSCP) method. PCR products will be subjected to SSCP analysis to correlate SSCP patterns with allelic sequence variation. Serological test will be done to determine if there are antibodies to microsomal antigen and to thyroglobulin. Much information will be obtained to greatly add to the pool of knowledge about TAP polymorphism, specifically in African-American volunteer controls and in patients with Graves' disease