HAPLOTYPE ANALYSIS AT PFIC/BYLER DISEASE GENE LOCUS WITH MICROSATELLITE MARKER

带有微卫星标记的 PFIC/BYLER 疾病基因位点单倍型分析

• 批准号: 6122850
• 负责人: WILLIAM F BALISTRERI
• 金额: $ 3.03万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6122850
• 关键词: cholestasis; clinical research; genetic mapping; genetic markers; haploidy; human subject

The purpose of this study is to test the hypothesis that searching for shared segments of genes by the use of gene mapping will distinguish subgroups of Byler syndrome/PFIC into molecular defined categories. This eventually may permit distinction among subgroups of Byler syndrome/PFIC on the basis of morphologic or clinical laboratory findings, as well as molecular work. The results of this study is expected to enhance our understanding of cholestasis as well as to improve the assessment of prognosis and the assignment of appropriate therapy via identification of gene defects and gene products which correspond to particular steps in bile secretion. Molecular biologic techniques will be used to analyze peripheral blood from patients and parents with Byler syndrome. If available, archival tissues will be used to extract genomic DNA, which will be analyzed for homozygosity at the BD locus, using microsatellite markers. The molecular biologic observations will be correlated with findings on light microscopy and TEM of the liver, as well as with clinical and biochemical data. It is hoped that insight into cholestasis will be gained by this work, with the eventual goal of developing effective therapies.

本研究的目的是检验这一假设，即搜索 通过基因作图的使用， 将Byler综合征/PFIC亚组分为分子定义的类别。 这 最终可区分Byler综合征/PFIC亚组 根据形态学或临床实验室检查结果，以及 分子工作。 这项研究的结果有望提高我们的 了解胆汁淤积以及改善评估 预后和分配适当的治疗，通过识别 基因缺陷和基因产物，其对应于 胆汁分泌 分子生物学技术将用于分析 来自Byler综合征患者及其父母的外周血。 如果 可用的档案组织将用于提取基因组DNA， 将使用微卫星分析BD基因座的纯合性 标记。 分子生物学观察结果将与 肝脏的光学显微镜和TEM结果，以及 临床和生化数据。 希望对胆汁淤积症的深入了解 将通过这项工作获得，最终目标是开发 有效的治疗。